-
3
-
-
10744224515
-
Mutant P450 Oxidoreductase Causes Disordered Steroidogenesis with and without Antley–Bixler Syndrome
-
C.E. Fluck, T. Tajima, A.V. Pandey, W. Arlt, K. Okuhara, C.F. Verge, E.W. Jabs, B.B. Mendonca, K. Fujieda and W.L. Miller (2004) Mutant P450 Oxidoreductase Causes Disordered Steroidogenesis with and without Antley–Bixler Syndrome. Nat. Genet. 36(3), 228-230.
-
(2004)
Nat. Genet.
, vol.36
, Issue.3
, pp. 228-230
-
-
Fluck, C.E.1
Tajima, T.2
Pandey, A.V.3
Arlt, W.4
Okuhara, K.5
Verge, C.F.6
Jabs, E.W.7
Mendonca, B.B.8
Fujieda, K.9
Miller, W.L.10
-
4
-
-
0031956847
-
Toward Understanding the Pathogenesis of Craniosynostosis through Clinical and Molecular Correlates
-
E.W. Jabs (1998) Toward Understanding the Pathogenesis of Craniosynostosis through Clinical and Molecular Correlates. Clin. Genet. 53(2), 79-86.
-
(1998)
Clin. Genet.
, vol.53
, Issue.2
, pp. 79-86
-
-
Jabs, E.W.1
-
5
-
-
34250009169
-
RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity
-
D. Jenkins, D. Seelow, F.S. Jehee, C.A. Perlyn, L.G. Alonso, D.F. Bueno, D. Donnai, D. Josifova, I.M. Mathijssen, J.E. Morton, et al. (2007) RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity. Am. J. Hum. Genet. 80(6), 1162-1170.
-
(2007)
Am. J. Hum. Genet.
, vol.80
, Issue.6
, pp. 1162-1170
-
-
Jenkins, D.1
Seelow, D.2
Jehee, F.S.3
Perlyn, C.A.4
Alonso, L.G.5
Bueno, D.F.6
Donnai, D.7
Josifova, D.8
Mathijssen, I.M.9
Morton, J.E.10
-
7
-
-
16944367030
-
A Unique Point Mutation in the Fibroblast Growth Factor Receptor 3 Gene (FGFR3) Defines a New Craniosynostosis Syndrome
-
M. Muenke, K.W. Gripp, D.M. McDonald-McGinn, K. Gaudenz, L.A. Whitaker, S.P. Bartlett, R.I. Markowitz, N.H. Robin, N. Nwokoro, J.J. Mulvihill, et al. (1997) A Unique Point Mutation in the Fibroblast Growth Factor Receptor 3 Gene (FGFR3) Defines a New Craniosynostosis Syndrome. Am. J. Hum. Genet. 60(3), 555-564.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, Issue.3
, pp. 555-564
-
-
Muenke, M.1
Gripp, K.W.2
McDonald-McGinn, D.M.3
Gaudenz, K.4
Whitaker, L.A.5
Bartlett, S.P.6
Markowitz, R.I.7
Robin, N.H.8
Nwokoro, N.9
Mulvihill, J.J.10
-
8
-
-
80051547705
-
Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth
-
P. Nieminen, N.V. Morgan, A.L. Fenwick, S. Parmanen, L. Veistinen, M.L. Mikkola, P.J. van der Spek, A. Giraud, L. Judd, S. Arte, et al. (2011) Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth. Am. J. Hum. Genet. 89(1), 67-81.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, Issue.1
, pp. 67-81
-
-
Nieminen, P.1
Morgan, N.V.2
Fenwick, A.L.3
Parmanen, S.4
Veistinen, L.5
Mikkola, M.L.6
van der Spek, P.J.7
Giraud, A.8
Judd, L.9
Arte, S.10
-
9
-
-
32944476196
-
Revisiting the Craniosynostosis-Radial Ray Hypoplasia Association: Baller–Gerold Syndrome Caused by Mutations in the RECQL4 Gene
-
L. Van Maldergem, H.A. Siitonen, N. Jalkh, E. Chouery, M. De Roy, V. Delague, M. Muenke, E.W. Jabs, J. Cai, L.L. Wang, et al. (2006) Revisiting the Craniosynostosis-Radial Ray Hypoplasia Association: Baller–Gerold Syndrome Caused by Mutations in the RECQL4 Gene. J. Med. Genet. 43(2), 148-152.
-
(2006)
J. Med. Genet.
, vol.43
, Issue.2
, pp. 148-152
-
-
Van Maldergem, L.1
Siitonen, H.A.2
Jalkh, N.3
Chouery, E.4
De Roy, M.5
Delague, V.6
Muenke, M.7
Jabs, E.W.8
Cai, J.9
Wang, L.L.10
-
10
-
-
2442661362
-
Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome
-
I. Wieland, S. Jakubiczka, P. Muschke, M. Cohen, H. Thiele, K.L. Gerlach, R.H. Adams and P. Wieacker (2004) Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome. Am. J. Hum. Genet. 74(6), 1209-1215.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, Issue.6
, pp. 1209-1215
-
-
Wieland, I.1
Jakubiczka, S.2
Muschke, P.3
Cohen, M.4
Thiele, H.5
Gerlach, K.L.6
Adams, R.H.7
Wieacker, P.8
-
11
-
-
0030769180
-
Craniosynostosis: Genes and Mechanisms
-
A.O. Wilkie (1997) Craniosynostosis: Genes and Mechanisms. Hum. Mol. Genet. 6(10), 1647-1656.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.10
, pp. 1647-1656
-
-
Wilkie, A.O.1
-
12
-
-
0027383692
-
Sutural Biology and the Correlates of Craniosynostosis
-
M.M. Cohen Jr. (1993) Sutural Biology and the Correlates of Craniosynostosis. Am. J. Med. Genet. 47(5), 581-616.
-
(1993)
Am. J. Med. Genet.
, vol.47
, Issue.5
, pp. 581-616
-
-
Cohen, M.M.1
-
13
-
-
4243319321
-
Embryology of the Skull
-
M.M. Cohen Jr., R.E. McLean (Eds), 2nd ed., Oxford: Oxford University Press
-
R.J. Lemire (2000) Embryology of the Skull. M.M. Cohen Jr., R.E. McLean (Eds) Craniosynostosis: Diagnosis, Evaluation, and Management 2nd ed. Oxford: Oxford University Press 24-34.
-
(2000)
Craniosynostosis: Diagnosis, Evaluation, and Management
, pp. 24-34
-
-
Lemire, R.J.1
-
14
-
-
84882795082
-
Sperberm, G. H. Calvaria and the Membranous Neurocranium (Desmocranium)
-
(Eds), 1st ed., Hamilton: BC Decker Inc
-
G.H. Sperber (Eds) (2000) Sperberm, G. H. Calvaria and the Membranous Neurocranium (Desmocranium). Craniofacial Development 1st ed. Hamilton: BC Decker Inc. 81-88.
-
(2000)
Craniofacial Development
, pp. 81-88
-
-
Sperber, G.H.1
-
15
-
-
84856743896
-
The Human Calvaria: A Review of Embryology, Anatomy, Pathology, and Molecular Development
-
R.S. Tubbs, A.N. Bosmia and A.A. Cohen-Gadol (2012) The Human Calvaria: A Review of Embryology, Anatomy, Pathology, and Molecular Development. Child Nerv. Syst. 28(1), 23-31.
-
(2012)
Child Nerv. Syst.
, vol.28
, Issue.1
, pp. 23-31
-
-
Tubbs, R.S.1
Bosmia, A.N.2
Cohen-Gadol, A.A.3
-
16
-
-
70349660228
-
Variations of Endoscopic and Open Repair of Metopic Craniosynostosis
-
S. Keshavarzi, M.G. Hayden, S. Ben-Haim, H.S. Meltzer, S.R. Cohen and M.L. Levy (2009) Variations of Endoscopic and Open Repair of Metopic Craniosynostosis. J. Craniofac. Surg. 20(5), 1439-1444.
-
(2009)
J. Craniofac. Surg.
, vol.20
, Issue.5
, pp. 1439-1444
-
-
Keshavarzi, S.1
Hayden, M.G.2
Ben-Haim, S.3
Meltzer, H.S.4
Cohen, S.R.5
Levy, M.L.6
-
17
-
-
0032145717
-
Trigonocephaly: Isolated, Associated and Syndromic Forms. Genetic Study in a Series of 278 Patients
-
E. Lajeunie, M. Le Merrer, E. Arnaud, D. Marchac and D. Renier (1998) Trigonocephaly: Isolated, Associated and Syndromic Forms. Genetic Study in a Series of 278 Patients. Arch. Pediatr. 5(8), 873-879.
-
(1998)
Arch. Pediatr.
, vol.5
, Issue.8
, pp. 873-879
-
-
Lajeunie, E.1
Le Merrer, M.2
Arnaud, E.3
Marchac, D.4
Renier, D.5
-
18
-
-
67650149722
-
Evolution in the Frequency of Non-Syndromic Craniosynostosis
-
F. Di Rocco, E. Arnaud and D. Renier (2009) Evolution in the Frequency of Non-Syndromic Craniosynostosis. J. Neurosurg. Pediatr. 4(1), 21-25.
-
(2009)
J. Neurosurg. Pediatr.
, vol.4
, Issue.1
, pp. 21-25
-
-
Di Rocco, F.1
Arnaud, E.2
Renier, D.3
-
19
-
-
79551611131
-
An Epidemiological Study of Nonsyndromal Craniosynostoses
-
J.C. Kolar (2011) An Epidemiological Study of Nonsyndromal Craniosynostoses. J. Craniofac. Surg. 22(1), 47-49.
-
(2011)
J. Craniofac. Surg.
, vol.22
, Issue.1
, pp. 47-49
-
-
Kolar, J.C.1
-
20
-
-
67349229415
-
The Changing Epidemiologic Spectrum of Single-Suture Synostoses
-
J. Selber, R.R. Reid, C.J. Chike-Obi, L.N. Sutton, E.H. Zackai, D. McDonald-McGinn, S.S. Sonnad, L.A. Whitaker and S.P. Bartlett (2008) The Changing Epidemiologic Spectrum of Single-Suture Synostoses. Plast. Reconstr. Surg. 122(2), 527-533.
-
(2008)
Plast. Reconstr. Surg.
, vol.122
, Issue.2
, pp. 527-533
-
-
Selber, J.1
Reid, R.R.2
Chike-Obi, C.J.3
Sutton, L.N.4
Zackai, E.H.5
McDonald-McGinn, D.6
Sonnad, S.S.7
Whitaker, L.A.8
Bartlett, S.P.9
-
21
-
-
0021810807
-
The Incidence of Isolated Craniosynostosis in the Newborn Infant
-
A. Shuper, P. Merlob, M. Grunebaum and S.H. Reisner (1985) The Incidence of Isolated Craniosynostosis in the Newborn Infant. Am. J. Dis. Child 139(1), 85-86.
-
(1985)
Am. J. Dis. Child
, vol.139
, Issue.1
, pp. 85-86
-
-
Shuper, A.1
Merlob, P.2
Grunebaum, M.3
Reisner, S.H.4
-
22
-
-
67349121905
-
The Increase of Metopic Synostosis: A Pan-European Observation
-
J. van der Meulen, R. van der Hulst, L. van Adrichem, E. Arnaud, D. Chin-Shong, C. Duncan, E. Habets, J. Hinojosa, I. Mathijssen, P. May, et al. (2009) The Increase of Metopic Synostosis: A Pan-European Observation. J. Craniofac. Surg. 20(2), 283-286.
-
(2009)
J. Craniofac. Surg.
, vol.20
, Issue.2
, pp. 283-286
-
-
van der Meulen, J.1
van der Hulst, R.2
van Adrichem, L.3
Arnaud, E.4
Chin-Shong, D.5
Duncan, C.6
Habets, E.7
Hinojosa, J.8
Mathijssen, I.9
May, P.10
-
23
-
-
0025890379
-
Germinal Mosaicism in Crouzon Syndrome. A Family with Three Affected Siblings of Normal Parents
-
C. Navarrete, R. Pena, R. Penaloza and F. Salamanca (1991) Germinal Mosaicism in Crouzon Syndrome. A Family with Three Affected Siblings of Normal Parents. Clin. Genet. 40(1), 29-34.
-
(1991)
Clin. Genet.
, vol.40
, Issue.1
, pp. 29-34
-
-
Navarrete, C.1
Pena, R.2
Penaloza, R.3
Salamanca, F.4
-
24
-
-
0023852420
-
Germinal Mosaicism in Crouzon Syndrome
-
B.R. Rollnick (1988) Germinal Mosaicism in Crouzon Syndrome. Clin. Genet. 33(3), 145-150.
-
(1988)
Clin. Genet.
, vol.33
, Issue.3
, pp. 145-150
-
-
Rollnick, B.R.1
-
26
-
-
0027981524
-
Mutations in the Fibroblast Growth Factor Receptor 2 Gene Cause Crouzon Syndrome
-
W. Reardon, R.M. Winter, P. Rutland, L.J. Pulleyn, B.M. Jones and S. Malcolm (1994) Mutations in the Fibroblast Growth Factor Receptor 2 Gene Cause Crouzon Syndrome. Nat. Genet. 8(1), 98-103.
-
(1994)
Nat. Genet.
, vol.8
, Issue.1
, pp. 98-103
-
-
Reardon, W.1
Winter, R.M.2
Rutland, P.3
Pulleyn, L.J.4
Jones, B.M.5
Malcolm, S.6
-
27
-
-
84886621421
-
Craniosynostosis, Midfacial Hypoplasia and Foot Abnormalities: An Autosomal Dominant Phenotype in a Large Amish Kindred
-
C.E. Jackson, L. Weiss, W.A. Reynolds, T.F. Forman and J.A. Peterson (1976) Craniosynostosis, Midfacial Hypoplasia and Foot Abnormalities: An Autosomal Dominant Phenotype in a Large Amish Kindred. J. Pediatr. 88(6), 963-968.
-
(1976)
J. Pediatr.
, vol.88
, Issue.6
, pp. 963-968
-
-
Jackson, C.E.1
Weiss, L.2
Reynolds, W.A.3
Forman, T.F.4
Peterson, J.A.5
-
28
-
-
0035874031
-
Century of Jackson–Weiss Syndrome: Further Definition of Clinical and Radiographic Findings in “Lost” Descendants of the Original Kindred
-
C. Heike, M. Seto, A. Hing, A. Palidin, F.Z. Hu, R.A. Preston, G.D. Ehrlich and M. Cunningham (2001) Century of Jackson–Weiss Syndrome: Further Definition of Clinical and Radiographic Findings in “Lost” Descendants of the Original Kindred. Am. J. Med. Genet. 100(4), 315-324.
-
(2001)
Am. J. Med. Genet.
, vol.100
, Issue.4
, pp. 315-324
-
-
Heike, C.1
Seto, M.2
Hing, A.3
Palidin, A.4
Hu, F.Z.5
Preston, R.A.6
Ehrlich, G.D.7
Cunningham, M.8
-
29
-
-
0028113931
-
Jackson–Weiss and Crouzon Syndromes Are Allelic with Mutations in Fibroblast Growth Factor Receptor 2
-
E.W. Jabs, X. Li, A.F. Scott, G. Meyers, W. Chen, M. Eccles, J.I. Mao, L.R. Charnas, C.E. Jackson and M. Jaye (1994) Jackson–Weiss and Crouzon Syndromes Are Allelic with Mutations in Fibroblast Growth Factor Receptor 2. Nat. Genet. 8(3), 275-279.
-
(1994)
Nat. Genet.
, vol.8
, Issue.3
, pp. 275-279
-
-
Jabs, E.W.1
Li, X.2
Scott, A.F.3
Meyers, G.4
Chen, W.5
Eccles, M.6
Mao, J.I.7
Charnas, L.R.8
Jackson, C.E.9
Jaye, M.10
-
30
-
-
0027476349
-
Pfeiffer Syndrome Update, Clinical Subtypes, and Guidelines for Differential Diagnosis
-
M.M. Cohen Jr. (1993) Pfeiffer Syndrome Update, Clinical Subtypes, and Guidelines for Differential Diagnosis. Am. J. Med. Genet. 45(3), 300-307.
-
(1993)
Am. J. Med. Genet.
, vol.45
, Issue.3
, pp. 300-307
-
-
Cohen, M.M.1
-
31
-
-
0028930046
-
Mutations in FGFR1 and FGFR2 Cause Familial and Sporadic Pfeiffer Syndrome
-
U. Schell, A. Hehr, G.J. Feldman, N.H. Robin, E.H. Zackai, C. de Die-Smulders, D.H. Viskochil, J.M. Stewart, G. Wolff, H. Ohashi, et al. (1995) Mutations in FGFR1 and FGFR2 Cause Familial and Sporadic Pfeiffer Syndrome. Hum. Mol. Genet. 4(3), 323-328.
-
(1995)
Hum. Mol. Genet.
, vol.4
, Issue.3
, pp. 323-328
-
-
Schell, U.1
Hehr, A.2
Feldman, G.J.3
Robin, N.H.4
Zackai, E.H.5
de Die-Smulders, C.6
Viskochil, D.H.7
Stewart, J.M.8
Wolff, G.9
Ohashi, H.10
-
32
-
-
0029877871
-
Suture Formation, Premature Sutural Fusion, and Suture Default Zones in Apert Syndrome
-
M.M. Cohen Jr. and S. Kreiborg (1996) Suture Formation, Premature Sutural Fusion, and Suture Default Zones in Apert Syndrome. Am. J. Med. Genet. 62(4), 339-344.
-
(1996)
Am. J. Med. Genet.
, vol.62
, Issue.4
, pp. 339-344
-
-
Cohen, M.M.1
Kreiborg, S.2
-
33
-
-
0025159354
-
The Central Nervous System in the Apert Syndrome
-
M.M. Cohen Jr. and S. Kreiborg (1990) The Central Nervous System in the Apert Syndrome. Am. J. Med. Genet. 35(1), 36-45.
-
(1990)
Am. J. Med. Genet.
, vol.35
, Issue.1
, pp. 36-45
-
-
Cohen, M.M.1
Kreiborg, S.2
-
34
-
-
0023845135
-
Intellectual Development in Apert’s Syndrome: A Long-Term Follow-Up of 29 Patients
-
M.A. Patton, J. Goodship, R. Hayward and R. Lansdown (1988) Intellectual Development in Apert’s Syndrome: A Long-Term Follow-Up of 29 Patients. J. Med. Genet. 25(3), 164-167.
-
(1988)
J. Med. Genet.
, vol.25
, Issue.3
, pp. 164-167
-
-
Patton, M.A.1
Goodship, J.2
Hayward, R.3
Lansdown, R.4
-
35
-
-
0027394497
-
Visceral Anomalies in the Apert Syndrome
-
M.M. Cohen Jr. and S. Kreiborg (1993) Visceral Anomalies in the Apert Syndrome. Am. J. Med. Genet. 45(6), 758-760.
-
(1993)
Am. J. Med. Genet.
, vol.45
, Issue.6
, pp. 758-760
-
-
Cohen, M.M.1
Kreiborg, S.2
-
36
-
-
0029655164
-
Cutaneous Manifestations of Apert Syndrome
-
M.M. Cohen Jr. and S. Kreiborg (1995) Cutaneous Manifestations of Apert Syndrome. Am. J. Med. Genet. 58(1), 94-96.
-
(1995)
Am. J. Med. Genet.
, vol.58
, Issue.1
, pp. 94-96
-
-
Cohen, M.M.1
Kreiborg, S.2
-
37
-
-
0028798546
-
Apert Syndrome Results from Localized Mutations of FGFR2 and Is Allelic with Crouzon Syndrome
-
A.O. Wilkie, S.F. Slaney, M. Oldridge, M.D. Poole, G.J. Ashworth, A.D. Hockley, R.D. Hayward, D.J. David, L.J. Pulleyn, P. Rutland, et al. (1995) Apert Syndrome Results from Localized Mutations of FGFR2 and Is Allelic with Crouzon Syndrome. Nat. Genet. 9(2), 165-172.
-
(1995)
Nat. Genet.
, vol.9
, Issue.2
, pp. 165-172
-
-
Wilkie, A.O.1
Slaney, S.F.2
Oldridge, M.3
Poole, M.D.4
Ashworth, G.J.5
Hockley, A.D.6
Hayward, R.D.7
David, D.J.8
Pulleyn, L.J.9
Rutland, P.10
-
38
-
-
77955481154
-
Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
-
A.O. Wilkie, J.C. Byren, J.A. Hurst, J. Jayamohan, D. Johnson, S.J. Knight, T. Lester, P.G. Richards, S.R. Twigg and S.A. Wall (2010) Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis. Pediatrics 126(2), E391-e400.
-
(2010)
Pediatrics
, vol.126
, Issue.2
, pp. E391-e400
-
-
Wilkie, A.O.1
Byren, J.C.2
Hurst, J.A.3
Jayamohan, J.4
Johnson, D.5
Knight, S.J.6
Lester, T.7
Richards, P.G.8
Twigg, S.R.9
Wall, S.A.10
-
39
-
-
0028291499
-
Jackson–Weiss Syndrome: Clinical and Radiological Findings in a Large Kindred and Exclusion of the Gene from 7p.21 and 5qter
-
L.C. Ades, J.C. Mulley, I.P. Senga, L.L. Morris, D.J. David and E.A. Haan (1994) Jackson–Weiss Syndrome: Clinical and Radiological Findings in a Large Kindred and Exclusion of the Gene from 7p.21 and 5qter. Am. J. Med. Genet. 51(2), 121-130.
-
(1994)
Am. J. Med. Genet.
, vol.51
, Issue.2
, pp. 121-130
-
-
Ades, L.C.1
Mulley, J.C.2
Senga, I.P.3
Morris, L.L.4
David, D.J.5
Haan, E.A.6
-
40
-
-
0030837389
-
Phenotypic Expression of the Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation P250R in a Large Craniosynostosis Family
-
A. Golla, P. Lichmer, S. von Gernet, A. Winterpacht, J. Fairley, J. Murken and S. Schuffenhauer (1997) Phenotypic Expression of the Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation P250R in a Large Craniosynostosis Family. J. Med. Genet. 34(8), 683-684.
-
(1997)
J. Med. Genet.
, vol.34
, Issue.8
, pp. 683-684
-
-
Golla, A.1
Lichmer, P.2
von Gernet, S.3
Winterpacht, A.4
Fairley, J.5
Murken, J.6
Schuffenhauer, S.7
-
41
-
-
0032554570
-
Deafness due to Pro250Arg Mutation of FGFR3
-
G.E. Hollway, G.K. Suthers, K.M. Battese, A.M. Turner, D.J. David and J.C. Mulley (1998) Deafness due to Pro250Arg Mutation of FGFR3. Lancet 351(9106), 877-878.
-
(1998)
Lancet
, vol.351
, Issue.9106
, pp. 877-878
-
-
Hollway, G.E.1
Suthers, G.K.2
Battese, K.M.3
Turner, A.M.4
David, D.J.5
Mulley, J.C.6
-
42
-
-
0032557724
-
Syndrome of Coronal Craniosynostosis with Brachydactyly and Carpal/Tarsal Coalition due to Pro250Arg Mutation in FGFR3 Gene
-
J.M. Graham Jr., S.R. Braddock, G.R. Mortier, R. Lachman, C. Van Dop and E.W. Jabs (1998) Syndrome of Coronal Craniosynostosis with Brachydactyly and Carpal/Tarsal Coalition due to Pro250Arg Mutation in FGFR3 Gene. Am. J. Med. Genet. 77(4), 322-329.
-
(1998)
Am. J. Med. Genet.
, vol.77
, Issue.4
, pp. 322-329
-
-
Graham, J.M.1
Braddock, S.R.2
Mortier, G.R.3
Lachman, R.4
Van Dop, C.5
Jabs, E.W.6
-
43
-
-
57749109181
-
Hearing Loss in a Mouse Model of Muenke Syndrome
-
S.L. Mansour, S.R. Twigg, R.M. Freeland, S.A. Wall, C. Li and A.O. Wilkie (2009) Hearing Loss in a Mouse Model of Muenke Syndrome. Hum. Mol. Genet. 18(1), 43-50.
-
(2009)
Hum. Mol. Genet.
, vol.18
, Issue.1
, pp. 43-50
-
-
Mansour, S.L.1
Twigg, S.R.2
Freeland, R.M.3
Wall, S.A.4
Li, C.5
Wilkie, A.O.6
-
44
-
-
0028793472
-
Fibroblast Growth Factor Receptor 3 (FGFR3) Transmembrane Mutation in Crouzon Syndrome with Acanthosis Nigricans
-
G.A. Meyers, S.J. Orlow, I.R. Munro, K.A. Przylepa and E.W. Jabs (1995) Fibroblast Growth Factor Receptor 3 (FGFR3) Transmembrane Mutation in Crouzon Syndrome with Acanthosis Nigricans. Nat. Genet. 11(4), 462-464.
-
(1995)
Nat. Genet.
, vol.11
, Issue.4
, pp. 462-464
-
-
Meyers, G.A.1
Orlow, S.J.2
Munro, I.R.3
Przylepa, K.A.4
Jabs, E.W.5
-
45
-
-
0033531968
-
Let’s Call It “Crouzonodermoskeletal Syndrome” so We Won’t Be Prisoners of Our Own Conventional Terminology
-
M.M. Cohen Jr. (1999) Let’s Call It “Crouzonodermoskeletal Syndrome” so We Won’t Be Prisoners of Our Own Conventional Terminology. Am. J. Med. Genet. 84(1), 74.
-
(1999)
Am. J. Med. Genet.
, vol.84
, Issue.1
, pp. 74
-
-
Cohen, M.M.1
-
46
-
-
35348924968
-
Crouzon with Acanthosis Nigricans. Further Delineation of the Syndrome
-
L. Arnaud-Lopez, R. Fragoso, J. Mantilla-Capacho and P. Barros-Nunez (2007) Crouzon with Acanthosis Nigricans. Further Delineation of the Syndrome. Clin. Genet. 72(5), 405-410.
-
(2007)
Clin. Genet.
, vol.72
, Issue.5
, pp. 405-410
-
-
Arnaud-Lopez, L.1
Fragoso, R.2
Mantilla-Capacho, J.3
Barros-Nunez, P.4
-
47
-
-
0035153450
-
Subtle Radiographic Findings of Achondroplasia in Patients with Crouzon Syndrome with Acanthosis Nigricans due to an Ala391Glu Substitution in FGFR3
-
D.N. Schweitzer, J.M. Graham Jr., R.S. Lachman, E.W. Jabs, K. Okajima, K.A. Przylepa, A. Shanske, K. Chen, J.A. Neidich and W.R. Wilcox (2001) Subtle Radiographic Findings of Achondroplasia in Patients with Crouzon Syndrome with Acanthosis Nigricans due to an Ala391Glu Substitution in FGFR3. Am. J. Med. Genet. 98(1), 75-91.
-
(2001)
Am. J. Med. Genet.
, vol.98
, Issue.1
, pp. 75-91
-
-
Schweitzer, D.N.1
Graham, J.M.2
Lachman, R.S.3
Jabs, E.W.4
Okajima, K.5
Przylepa, K.A.6
Shanske, A.7
Chen, K.8
Neidich, J.A.9
Wilcox, W.R.10
-
48
-
-
15844388219
-
Fibroblast Growth Factor Receptor 2 Mutations in Beare–Stevenson Cutis Gyrata Syndrome
-
K.A. Przylepa, W. Paznekas, M. Zhang, M. Golabi, W. Bias, M.J. Bamshad, J.C. Carey, B.D. Hall, R. Stevenson, S. Orlow, et al. (1996) Fibroblast Growth Factor Receptor 2 Mutations in Beare–Stevenson Cutis Gyrata Syndrome. Nat. Genet. 13(4), 492-494.
-
(1996)
Nat. Genet.
, vol.13
, Issue.4
, pp. 492-494
-
-
Przylepa, K.A.1
Paznekas, W.2
Zhang, M.3
Golabi, M.4
Bias, W.5
Bamshad, M.J.6
Carey, J.C.7
Hall, B.D.8
Stevenson, R.9
Orlow, S.10
-
49
-
-
19944430581
-
Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation
-
K.E. White, J.M. Cabral, S.I. Davis, T. Fishburn, W.E. Evans, S. Ichikawa, J. Fields, X. Yu, N.J. Shaw, N.J. McLellan, et al. (2005) Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation. Am. J. Hum. Genet. 76(2), 361-367.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, Issue.2
, pp. 361-367
-
-
White, K.E.1
Cabral, J.M.2
Davis, S.I.3
Fishburn, T.4
Evans, W.E.5
Ichikawa, S.6
Fields, J.7
Yu, X.8
Shaw, N.J.9
McLellan, N.J.10
-
50
-
-
17344363396
-
Genetic Heterogeneity of Saethre–Chotzen Syndrome, due to TWIST and FGFR Mutations
-
W.A. Paznekas, M.L. Cunningham, T.D. Howard, B.R. Korf, M.H. Lipson, A.W. Grix, M. Feingold, R. Goldberg, Z. Borochowitz, K. Aleck, et al. (1998) Genetic Heterogeneity of Saethre–Chotzen Syndrome, due to TWIST and FGFR Mutations. Am. J. Hum. Genet. 62(6), 1370-1380.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, Issue.6
, pp. 1370-1380
-
-
Paznekas, W.A.1
Cunningham, M.L.2
Howard, T.D.3
Korf, B.R.4
Lipson, M.H.5
Grix, A.W.6
Feingold, M.7
Goldberg, R.8
Borochowitz, Z.9
Aleck, K.10
-
51
-
-
0041630695
-
A Novel Mutation in the TWIST Gene, Implicated in Saethre–Chotzen Syndrome, Is Found in the Original Case of Robinow–Sorauf Syndrome
-
J. Cai, B.A. Shoo, T. Sorauf and E.W. Jabs (2003) A Novel Mutation in the TWIST Gene, Implicated in Saethre–Chotzen Syndrome, Is Found in the Original Case of Robinow–Sorauf Syndrome. Clin. Genet. 64(1), 79-82.
-
(2003)
Clin. Genet.
, vol.64
, Issue.1
, pp. 79-82
-
-
Cai, J.1
Shoo, B.A.2
Sorauf, T.3
Jabs, E.W.4
-
52
-
-
0032810552
-
Identification of a Frameshift Mutation in the Gene TWIST in a Family Affected with Robinow–Sorauf Syndrome
-
J. Kunz, M. Hudler and B. Fritz (1999) Identification of a Frameshift Mutation in the Gene TWIST in a Family Affected with Robinow–Sorauf Syndrome. J. Med. Genet. 36(8), 650-652.
-
(1999)
J. Med. Genet.
, vol.36
, Issue.8
, pp. 650-652
-
-
Kunz, J.1
Hudler, M.2
Fritz, B.3
-
53
-
-
0027263856
-
Newly Recognized Autosomal Dominant Disorder with Craniosynostosis
-
M.L. Warman, J.B. Mulliken, P.G. Hayward and U. Muller (1993) Newly Recognized Autosomal Dominant Disorder with Craniosynostosis. Am. J. Med. Genet. 46(4), 444-449.
-
(1993)
Am. J. Med. Genet.
, vol.46
, Issue.4
, pp. 444-449
-
-
Warman, M.L.1
Mulliken, J.B.2
Hayward, P.G.3
Muller, U.4
-
54
-
-
0027431005
-
A Mutation in the Homeodomain of the Human MSX2 Gene in a Family Affected with Autosomal Dominant Craniosynostosis
-
E.W. Jabs, U. Muller, X. Li, L. Ma, W. Luo, I.S. Haworth, I. Klisak, R. Sparkes, M.L. Warman, J.B. Mulliken, et al. (1993) A Mutation in the Homeodomain of the Human MSX2 Gene in a Family Affected with Autosomal Dominant Craniosynostosis. Cell 75(3), 443-450.
-
(1993)
Cell
, vol.75
, Issue.3
, pp. 443-450
-
-
Jabs, E.W.1
Muller, U.2
Li, X.3
Ma, L.4
Luo, W.5
Haworth, I.S.6
Klisak, I.7
Sparkes, R.8
Warman, M.L.9
Mulliken, J.B.10
-
55
-
-
0023924808
-
Craniofrontonasal Dysplasia: Phenotypic Expression in Females and Males and Genetic Considerations
-
E. Grutzner and R.J. Gorlin (1988) Craniofrontonasal Dysplasia: Phenotypic Expression in Females and Males and Genetic Considerations. Oral Surg. Oral Med. Oral Pathol. 65(4), 436-444.
-
(1988)
Oral Surg. Oral Med. Oral Pathol.
, vol.65
, Issue.4
, pp. 436-444
-
-
Grutzner, E.1
Gorlin, R.J.2
-
56
-
-
22844439789
-
Twenty-Six Novel EFNB1 Mutations in Familial and Sporadic Craniofrontonasal Syndrome (CFNS)
-
I. Wieland, W. Reardon, S. Jakubiczka, B. Franco, W. Kress, C. Vincent-Delorme, P. Thierry, M. Edwards, R. Konig, C. Rusu, et al. (2005) Twenty-Six Novel EFNB1 Mutations in Familial and Sporadic Craniofrontonasal Syndrome (CFNS). Hum. Mutat. 26(2), 113-118.
-
(2005)
Hum. Mutat.
, vol.26
, Issue.2
, pp. 113-118
-
-
Wieland, I.1
Reardon, W.2
Jakubiczka, S.3
Franco, B.4
Kress, W.5
Vincent-Delorme, C.6
Thierry, P.7
Edwards, M.8
Konig, R.9
Rusu, C.10
-
57
-
-
0025186098
-
Baller–Gerold Syndrome: A 11th Case of Craniosynostosis and Radial Aplasia
-
J.M. Boudreaux, M.A. Colon, G.D. Lorusso, E.A. Parro and M.Z. Pelias (1990) Baller–Gerold Syndrome: A 11th Case of Craniosynostosis and Radial Aplasia. Am. J. Med. Genet. 37(4), 447-450.
-
(1990)
Am. J. Med. Genet.
, vol.37
, Issue.4
, pp. 447-450
-
-
Boudreaux, J.M.1
Colon, M.A.2
Lorusso, G.D.3
Parro, E.A.4
Pelias, M.Z.5
-
58
-
-
63749107674
-
A Patient with Baller–Gerold Syndrome and Midline NK/T Lymphoma
-
M. Debeljak, A. Zver and J. Jazbec (2009) A Patient with Baller–Gerold Syndrome and Midline NK/T Lymphoma. Am. J. Med. Genet. A 149A(4), 755-759.
-
(2009)
Am. J. Med. Genet. A
, vol.149A
, Issue.4
, pp. 755-759
-
-
Debeljak, M.1
Zver, A.2
Jazbec, J.3
-
59
-
-
0016736856
-
Trapezoidocephaly, Midfacial Hypoplasia and Cartilage Abnormalities with Multiple Synostoses and Skeletal Fractures
-
R. Antley and D. Bixler (1975) Trapezoidocephaly, Midfacial Hypoplasia and Cartilage Abnormalities with Multiple Synostoses and Skeletal Fractures. Birth Defects Orig Artic Ser. 11(2), 397-401.
-
(1975)
Birth Defects Orig Artic Ser.
, vol.11
, Issue.2
, pp. 397-401
-
-
Antley, R.1
Bixler, D.2
-
60
-
-
0032543288
-
FGFR2 Mutation Associated with Clinical Manifestations Consistent with Antley–Bixler syndrome
-
K. Chun, J. Siegel-Bartelt, D. Chitayat, J. Phillips and P.N. Ray (1998) FGFR2 Mutation Associated with Clinical Manifestations Consistent with Antley–Bixler syndrome. Am. J. Med. Genet. 77(3), 219-224.
-
(1998)
Am. J. Med. Genet.
, vol.77
, Issue.3
, pp. 219-224
-
-
Chun, K.1
Siegel-Bartelt, J.2
Chitayat, D.3
Phillips, J.4
Ray, P.N.5
-
61
-
-
0034059969
-
Evidence for Digenic Inheritance in Some Cases of Antley–Bixler Syndrome?
-
W. Reardon, A. Smith, J.W. Honour, P. Hindmarsh, D. Das, G. Rumsby, I. Nelson, S. Malcolm, L. Ades, D. Sillence, et al. (2000) Evidence for Digenic Inheritance in Some Cases of Antley–Bixler Syndrome? J. Med. Genet. 37(1), 26-32.
-
(2000)
J. Med. Genet.
, vol.37
, Issue.1
, pp. 26-32
-
-
Reardon, W.1
Smith, A.2
Honour, J.W.3
Hindmarsh, P.4
Das, D.5
Rumsby, G.6
Nelson, I.7
Malcolm, S.8
Ades, L.9
Sillence, D.10
-
62
-
-
3042613405
-
Congenital Adrenal Hyperplasia Caused by Mutant P450 Oxidoreductase and Human Androgen Synthesis: Analytical Study
-
W. Arlt, E.A. Walker, N. Draper, H.E. Ivison, J.P. Ride, F. Hammer, S.M. Chalder, M. Borucka-Mankiewicz, B.P. Hauffa, E.M. Malunowicz, et al. (2004) Congenital Adrenal Hyperplasia Caused by Mutant P450 Oxidoreductase and Human Androgen Synthesis: Analytical Study. Lancet 363(9427), 2128-2135.
-
(2004)
Lancet
, vol.363
, Issue.9427
, pp. 2128-2135
-
-
Arlt, W.1
Walker, E.A.2
Draper, N.3
Ivison, H.E.4
Ride, J.P.5
Hammer, F.6
Chalder, S.M.7
Borucka-Mankiewicz, M.8
Hauffa, B.P.9
Malunowicz, E.M.10
-
63
-
-
0037097340
-
Abnormal Sterol Metabolism in a Patient with Antley–Bixler Syndrome and Ambiguous Genitalia
-
R.I. Kelley, L.E. Kratz, R.L. Glaser, M.L. Netzloff, L.M. Wolf and E.W. Jabs (2002) Abnormal Sterol Metabolism in a Patient with Antley–Bixler Syndrome and Ambiguous Genitalia. Am. J. Med. Genet. 110(2), 95-102.
-
(2002)
Am. J. Med. Genet.
, vol.110
, Issue.2
, pp. 95-102
-
-
Kelley, R.I.1
Kratz, L.E.2
Glaser, R.L.3
Netzloff, M.L.4
Wolf, L.M.5
Jabs, E.W.6
-
64
-
-
0030770714
-
Multiple Malformation Syndrome Following Fluconazole Use in Pregnancy: Report of an Additional Patient
-
K.A. Aleck and D.L. Bartley (1997) Multiple Malformation Syndrome Following Fluconazole Use in Pregnancy: Report of an Additional Patient. Am. J. Med. Genet. 72(3), 253-256.
-
(1997)
Am. J. Med. Genet.
, vol.72
, Issue.3
, pp. 253-256
-
-
Aleck, K.A.1
Bartley, D.L.2
-
65
-
-
1842360769
-
Acrocephaly, with Other Congenital Malformations
-
(Sect Study Dis Child)
-
G. Carpenter (1909) Acrocephaly, with Other Congenital Malformations. Proc. R. Soc. Med. 2 45-53. (Sect Study Dis Child)
-
(1909)
Proc. R. Soc. Med.
, vol.2
, pp. 45-53
-
-
Carpenter, G.1
-
66
-
-
0026649742
-
Fibroblast Growth Factor Receptor Tyrosine Kinases: Molecular Analysis and Signal Transduction
-
M. Jaye, J. Schlessinger and C.A. Dionne (1992) Fibroblast Growth Factor Receptor Tyrosine Kinases: Molecular Analysis and Signal Transduction. Biochim. Biophys. Acta 1135(2), 185-199.
-
(1992)
Biochim. Biophys. Acta
, vol.1135
, Issue.2
, pp. 185-199
-
-
Jaye, M.1
Schlessinger, J.2
Dionne, C.A.3
-
67
-
-
0027344852
-
Structural and Functional Diversity in the FGF Receptor Multigene Family
-
D.E. Johnson and L.T. Williams (1993) Structural and Functional Diversity in the FGF Receptor Multigene Family. Adv. Cancer Res. 60 1-41.
-
(1993)
Adv. Cancer Res.
, vol.60
, pp. 1-41
-
-
Johnson, D.E.1
Williams, L.T.2
-
68
-
-
0033520472
-
Structural Basis for FGF Receptor Dimerization and Activation
-
A.N. Plotnikov, J. Schlessinger, S.R. Hubbard and M. Mohammadi (1999) Structural Basis for FGF Receptor Dimerization and Activation. Cell 98(5), 641-650.
-
(1999)
Cell
, vol.98
, Issue.5
, pp. 641-650
-
-
Plotnikov, A.N.1
Schlessinger, J.2
Hubbard, S.R.3
Mohammadi, M.4
-
69
-
-
0024339705
-
The Heparin-Binding (Fibroblast) Growth Factor Family of Proteins
-
W.H. Burgess and T. Maciag (1989) The Heparin-Binding (Fibroblast) Growth Factor Family of Proteins. Annu. Rev. Biochem. 58 575-606.
-
(1989)
Annu. Rev. Biochem.
, vol.58
, pp. 575-606
-
-
Burgess, W.H.1
Maciag, T.2
-
70
-
-
33644973673
-
FGF Signaling in Skeletal Development
-
M.C. Naski and D.M. Ornitz (1998) FGF Signaling in Skeletal Development. Front Biosci. 3 D781-D794.
-
(1998)
Front Biosci.
, vol.3
, pp. D781-D794
-
-
Naski, M.C.1
Ornitz, D.M.2
-
71
-
-
0026502460
-
Heparin is Required for Cell-Free Binding of Basic Fibroblast Growth Factor to a Soluble Receptor and for Mitogenesis in Whole Cells
-
D.M. Ornitz, A. Yayon, J.G. Flanagan, C.M. Svahn, E. Levi and P. Leder (1992) Heparin is Required for Cell-Free Binding of Basic Fibroblast Growth Factor to a Soluble Receptor and for Mitogenesis in Whole Cells. Mol. Cell Biol. 12(1), 240-247.
-
(1992)
Mol. Cell Biol.
, vol.12
, Issue.1
, pp. 240-247
-
-
Ornitz, D.M.1
Yayon, A.2
Flanagan, J.G.3
Svahn, C.M.4
Levi, E.5
Leder, P.6
-
73
-
-
0037097976
-
FGF Signaling Pathways in Endochondral and Intramembranous Bone Development and Human Genetic Disease
-
D.M. Ornitz and P.J. Marie (2002) FGF Signaling Pathways in Endochondral and Intramembranous Bone Development and Human Genetic Disease. Genes Dev. 16(12), 1446-1465.
-
(2002)
Genes Dev.
, vol.16
, Issue.12
, pp. 1446-1465
-
-
Ornitz, D.M.1
Marie, P.J.2
-
74
-
-
13244284809
-
SH2 and SH3 Domains
-
T. Pawson and J. Schlessinger (1993) SH2 and SH3 Domains. Curr. Biol. 3(7), 434-442.
-
(1993)
Curr. Biol.
, vol.3
, Issue.7
, pp. 434-442
-
-
Pawson, T.1
Schlessinger, J.2
-
75
-
-
0032170311
-
Spatio-Temporal Expression of FGFR 1, 2 and 3 Genes during Human Embryo-Fetal Ossification
-
A.L. DeHeer, C. Delezoide, L. Benoist-Lasselin, M. Legeai-Mallet, A. Le Merrer, M. Munnich, M. Vekemans and J. Bonaventure (1998) Spatio-Temporal Expression of FGFR 1, 2 and 3 Genes during Human Embryo-Fetal Ossification. Mech. Dev. 77(1), 19-30.
-
(1998)
Mech. Dev.
, vol.77
, Issue.1
, pp. 19-30
-
-
DeHeer, A.L.1
Delezoide, C.2
Benoist-Lasselin, L.3
Legeai-Mallet, M.4
Le Merrer, A.5
Munnich, M.6
Vekemans, M.7
Bonaventure, J.8
-
76
-
-
0043208839
-
FGFR mRNA Isoforms in Craniofacial Bone Development
-
D.P. Rice, R. Rice and I. Thesleff (2003) FGFR mRNA Isoforms in Craniofacial Bone Development. Bone 33(1), 14-27.
-
(2003)
Bone
, vol.33
, Issue.1
, pp. 14-27
-
-
Rice, D.P.1
Rice, R.2
Thesleff, I.3
-
77
-
-
0033922217
-
The Pleiotropic Effects of Fibroblast Growth Factor Receptors in Mammalian Development
-
I. Mcintosh, G.A. Bellus and E.W. Jab (2000) The Pleiotropic Effects of Fibroblast Growth Factor Receptors in Mammalian Development. Cell Struct. Funct. 25(2), 85-96.
-
(2000)
Cell Struct. Funct.
, vol.25
, Issue.2
, pp. 85-96
-
-
Mcintosh, I.1
Bellus, G.A.2
Jab, E.W.3
-
79
-
-
0032774475
-
Clinical Spectrum of Fibroblast Growth Factor Receptor Mutations
-
M.R. Passos-Bueno, W.R. Wilcox, E.W. Jabs, A.L. Sertie, L.G. Alonso and H. Kitoh (1999) Clinical Spectrum of Fibroblast Growth Factor Receptor Mutations. Hum. Mutat. 14(2), 115-125.
-
(1999)
Hum. Mutat.
, vol.14
, Issue.2
, pp. 115-125
-
-
Passos-Bueno, M.R.1
Wilcox, W.R.2
Jabs, E.W.3
Sertie, A.L.4
Alonso, L.G.5
Kitoh, H.6
-
80
-
-
17844402791
-
Bad Bones, Absent Smell, Selfish Testes: The Pleiotropic Consequences of Human FGF Receptor Mutations
-
A.O. Wilkie (2005) Bad Bones, Absent Smell, Selfish Testes: The Pleiotropic Consequences of Human FGF Receptor Mutations. Cytokine Growth Factor Rev. 16(2), 187-203.
-
(2005)
Cytokine Growth Factor Rev.
, vol.16
, Issue.2
, pp. 187-203
-
-
Wilkie, A.O.1
-
81
-
-
0029798614
-
Identical Mutations in Three Different Fibroblast Growth Factor Receptor Genes in Autosomal Dominant Craniosynostosis Syndromes
-
G.A. Bellus, K. Gaudenz, E.H. Zackai, L.A. Clarke, J. Szabo, C.A. Francomano and M. Muenke (1996) Identical Mutations in Three Different Fibroblast Growth Factor Receptor Genes in Autosomal Dominant Craniosynostosis Syndromes. Nat. Genet. 14(2), 174-176.
-
(1996)
Nat. Genet.
, vol.14
, Issue.2
, pp. 174-176
-
-
Bellus, G.A.1
Gaudenz, K.2
Zackai, E.H.3
Clarke, L.A.4
Szabo, J.5
Francomano, C.A.6
Muenke, M.7
-
82
-
-
0028846512
-
Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome
-
K.M. Neilson and R.E. Friesel (1995) Constitutive Activation of Fibroblast Growth Factor Receptor-2 by a Point Mutation Associated with Crouzon Syndrome. J. Biol. Chem. 270(44), 26037-26040.
-
(1995)
J. Biol. Chem.
, vol.270
, Issue.44
, pp. 26037-26040
-
-
Neilson, K.M.1
Friesel, R.E.2
-
83
-
-
0032515975
-
Activating Mutations in the Extracellular Domain of the Fibroblast Growth Factor Receptor 2 Function by Disruption of the Disulfide Bond in the Third Immunoglobulin-Like Domain
-
S.C. Robertson, A.N. Meyer, K.C. Hart, B.D. Galvin, M.K. Webster and D.J. Donoghue (1998) Activating Mutations in the Extracellular Domain of the Fibroblast Growth Factor Receptor 2 Function by Disruption of the Disulfide Bond in the Third Immunoglobulin-Like Domain. Proc. Natl. Acad Sci. U.S.A. 95(8), 4567-4572.
-
(1998)
Proc. Natl. Acad Sci. U.S.A.
, vol.95
, Issue.8
, pp. 4567-4572
-
-
Robertson, S.C.1
Meyer, A.N.2
Hart, K.C.3
Galvin, B.D.4
Webster, M.K.5
Donoghue, D.J.6
-
84
-
-
0031005778
-
FGFR Activation in Skeletal Disorders: Too Much of a Good Thing
-
M.K. Webster and D.J. Donoghue (1997) FGFR Activation in Skeletal Disorders: Too Much of a Good Thing. Trends Genet. 13(5), 178-182.
-
(1997)
Trends Genet.
, vol.13
, Issue.5
, pp. 178-182
-
-
Webster, M.K.1
Donoghue, D.J.2
-
85
-
-
0034687699
-
Loss of Fibroblast Growth Factor Receptor 2 Ligand-Binding Specificity in Apert Syndrome
-
K. Yu, A.B. Herr, G. Waksman and D.M. Ornitz (2000) Loss of Fibroblast Growth Factor Receptor 2 Ligand-Binding Specificity in Apert Syndrome. Proc. Natl. Acad Sci. U.S.A. 97(26), 14536-14541.
-
(2000)
Proc. Natl. Acad Sci. U.S.A.
, vol.97
, Issue.26
, pp. 14536-14541
-
-
Yu, K.1
Herr, A.B.2
Waksman, G.3
Ornitz, D.M.4
-
86
-
-
0031749743
-
Crouzon-Like Craniofacial Dysmorphology in the Mouse is Caused by an Insertional Mutation at the Fgf3/Fgf4 locus
-
M.B. Carlton, W.H. Colledge and M.J. Evans (1998) Crouzon-Like Craniofacial Dysmorphology in the Mouse is Caused by an Insertional Mutation at the Fgf3/Fgf4 locus. Dev. Dyn. 212(2), 242-249.
-
(1998)
Dev. Dyn.
, vol.212
, Issue.2
, pp. 242-249
-
-
Carlton, M.B.1
Colledge, W.H.2
Evans, M.J.3
-
87
-
-
4344689004
-
A Gain-of-Function Mutation of Fgfr2c Demonstrates the Roles of this Receptor Variant in Osteogenesis
-
V.P. Eswarakumar, M.C. Horowitz, R. Locklin, G.M. Morriss-Kay and P. Lonai (2004) A Gain-of-Function Mutation of Fgfr2c Demonstrates the Roles of this Receptor Variant in Osteogenesis. Proc. Natl. Acad Sci. U.S.A. 101(34), 12555-12560.
-
(2004)
Proc. Natl. Acad Sci. U.S.A.
, vol.101
, Issue.34
, pp. 12555-12560
-
-
Eswarakumar, V.P.1
Horowitz, M.C.2
Locklin, R.3
Morriss-Kay, G.M.4
Lonai, P.5
-
88
-
-
77649302376
-
Activation of p38 MAPK Pathway in the Skull Abnormalities of Apert Syndrome FGFR2 (+P253R) mice
-
Y. Wang, M. Sun, V.L. Uhlhorn, X. Zhou, I. Peter, N. Martinez-Abadias, C.A. Hill, C.J. Percival, J.T. Richtsmeier, D.L. Huso, et al. (2010) Activation of p38 MAPK Pathway in the Skull Abnormalities of Apert Syndrome FGFR2 (+P253R) mice. BMC Dev. Biol. 10 22.
-
(2010)
BMC Dev. Biol.
, vol.10
, pp. 22
-
-
Wang, Y.1
Sun, M.2
Uhlhorn, V.L.3
Zhou, X.4
Peter, I.5
Martinez-Abadias, N.6
Hill, C.A.7
Percival, C.J.8
Richtsmeier, J.T.9
Huso, D.L.10
-
89
-
-
24344453489
-
Abnormalities in Cartilage and Bone Development in the Apert Syndrome FGFR2(+/S252W) Mouse
-
Y. Wang, R. Xiao, F. Yang, B.O. Karim, A.J. Iacovelli, J. Cai, C.P. Lerner, J.T. Richtsmeier, J.M. Leszl, C.A. Hill, et al. (2005) Abnormalities in Cartilage and Bone Development in the Apert Syndrome FGFR2(+/S252W) Mouse. Development 132(15), 3537-3548.
-
(2005)
Development
, vol.132
, Issue.15
, pp. 3537-3548
-
-
Wang, Y.1
Xiao, R.2
Yang, F.3
Karim, B.O.4
Iacovelli, A.J.5
Cai, J.6
Lerner, C.P.7
Richtsmeier, J.T.8
Leszl, J.M.9
Hill, C.A.10
-
90
-
-
34548371795
-
RNA Interference and Inhibition of MEK–ERK Signaling Prevent Abnormal Skeletal Phenotypes in a Mouse Model of Craniosynostosis
-
V. Shukla, X. Coumoul, R.H. Wang, H.S. Kim and C.X. Deng (2007) RNA Interference and Inhibition of MEK–ERK Signaling Prevent Abnormal Skeletal Phenotypes in a Mouse Model of Craniosynostosis. Nat. Genet. 39(9), 1145-1150.
-
(2007)
Nat. Genet.
, vol.39
, Issue.9
, pp. 1145-1150
-
-
Shukla, V.1
Coumoul, X.2
Wang, R.H.3
Kim, H.S.4
Deng, C.X.5
-
91
-
-
40949140612
-
A Pro253Arg Mutation in Fibroblast Growth Factor Receptor 2 (Fgfr2) Causes Skeleton Malformation Mimicking Human Apert Syndrome by Affecting both Chondrogenesis and Osteogenesis
-
L. Yin, X. Du, C.L. Li, X.L. Xu, Z. Chen, N. Su, L. Zhao, H.B. Qi, F.B. Li, J. Xue, et al. (2008) A Pro253Arg Mutation in Fibroblast Growth Factor Receptor 2 (Fgfr2) Causes Skeleton Malformation Mimicking Human Apert Syndrome by Affecting both Chondrogenesis and Osteogenesis. Bone 42(4), 631-643.
-
(2008)
Bone
, vol.42
, Issue.4
, pp. 631-643
-
-
Yin, L.1
Du, X.2
Li, C.L.3
Xu, X.L.4
Chen, Z.5
Su, N.6
Zhao, L.7
Qi, H.B.8
Li, F.B.9
Xue, J.10
-
92
-
-
20244366799
-
Loss-of-Function Mutations in FGFR1 Cause Autosomal Dominant Kallmann Syndrome
-
C. Dode, J. Levilliers, J.M. Dupont, A. De Paepe, N. Le Du, N. Soussi-Yanicostas, R.S. Coimbra, S. Delmaghani, S. Compain-Nouaille, F. Baverel, et al. (2003) Loss-of-Function Mutations in FGFR1 Cause Autosomal Dominant Kallmann Syndrome. Nat. Genet. 33(4), 463-465.
-
(2003)
Nat. Genet.
, vol.33
, Issue.4
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
De Paepe, A.4
Le Du, N.5
Soussi-Yanicostas, N.6
Coimbra, R.S.7
Delmaghani, S.8
Compain-Nouaille, S.9
Baverel, F.10
-
93
-
-
0029059280
-
Analysis of Phenotypic Features and FGFR2 Mutations in Apert Syndrome
-
W.J. Park, C. Theda, N.E. Maestri, G.A. Meyers, J.S. Fryburg, C. Dufresne, M.M. Cohen Jr. and E.W. Jabs (1995) Analysis of Phenotypic Features and FGFR2 Mutations in Apert Syndrome. Am. J. Hum. Genet. 57(2), 321-328.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, Issue.2
, pp. 321-328
-
-
Park, W.J.1
Theda, C.2
Maestri, N.E.3
Meyers, G.A.4
Fryburg, J.S.5
Dufresne, C.6
Cohen, M.M.7
Jabs, E.W.8
-
94
-
-
0032578269
-
Epidermal Mosaicism Producing Localised Acne: Somatic Mutation in FGFR2
-
C.S. Munro and A.O. Wilkie (1998) Epidermal Mosaicism Producing Localised Acne: Somatic Mutation in FGFR2. Lancet 352(9129), 704-705.
-
(1998)
Lancet
, vol.352
, Issue.9129
, pp. 704-705
-
-
Munro, C.S.1
Wilkie, A.O.2
-
96
-
-
0031559395
-
Pfeiffer Mutation in an Apert Patient: How Wide Is the Spectrum of Variability due to Mutations in the FGFR2 Gene?
-
M.R. Passos-Bueno, A.L. Sertie, M. Zatz and A. Richieri-Costa (1997) Pfeiffer Mutation in an Apert Patient: How Wide Is the Spectrum of Variability due to Mutations in the FGFR2 Gene? Am. J. Med. Genet. 71(2), 243-245.
-
(1997)
Am. J. Med. Genet.
, vol.71
, Issue.2
, pp. 243-245
-
-
Passos-Bueno, M.R.1
Sertie, A.L.2
Zatz, M.3
Richieri-Costa, A.4
-
97
-
-
0030887722
-
Prevalence of Pro250Arg Mutation of Fibroblast Growth Factor Receptor 3 in Coronal Craniosynostosis
-
D.M. Moloney, S.A. Wall, G.J. Ashworth, M. Oldridge, I.A. Glass, C.A. Francomano, M. Muenke and A.O. Wilkie (1997) Prevalence of Pro250Arg Mutation of Fibroblast Growth Factor Receptor 3 in Coronal Craniosynostosis. Lancet 349(9058), 1059-1062.
-
(1997)
Lancet
, vol.349
, Issue.9058
, pp. 1059-1062
-
-
Moloney, D.M.1
Wall, S.A.2
Ashworth, G.J.3
Oldridge, M.4
Glass, I.A.5
Francomano, C.A.6
Muenke, M.7
Wilkie, A.O.8
-
98
-
-
0036014969
-
The Enigma of Ectopic Expression of FGFR3 in Multiple Myeloma: A Critical Initiating Event or Just a Target for Mutational Activation During Tumor Progression
-
M. Chesi, P.L. Bergsagel and W.M. Kuehl (2002) The Enigma of Ectopic Expression of FGFR3 in Multiple Myeloma: A Critical Initiating Event or Just a Target for Mutational Activation During Tumor Progression. Curr. Opin. Hematol. 9(4), 288-293.
-
(2002)
Curr. Opin. Hematol.
, vol.9
, Issue.4
, pp. 288-293
-
-
Chesi, M.1
Bergsagel, P.L.2
Kuehl, W.M.3
-
99
-
-
0037337599
-
Fibroblast Growth Factors and Their Receptors in Urological Cancers: Basic Research and Clinical Implications
-
M.V. Cronauer, W.A. Schulz, H.H. Seifert, R. Ackermann and M. Burchardt (2003) Fibroblast Growth Factors and Their Receptors in Urological Cancers: Basic Research and Clinical Implications. Eur. Urol. 43(3), 309-319.
-
(2003)
Eur. Urol.
, vol.43
, Issue.3
, pp. 309-319
-
-
Cronauer, M.V.1
Schulz, W.A.2
Seifert, H.H.3
Ackermann, R.4
Burchardt, M.5
-
100
-
-
0034467004
-
Tyrosine Kinase Signaling in Breast Cancer: Fibroblast Growth Factors and Their Receptors
-
C. Dickson, B. Spencer-Dene, C. Dillon and V. Fantl (2000) Tyrosine Kinase Signaling in Breast Cancer: Fibroblast Growth Factors and Their Receptors. Breast Cancer Res. 2(3), 191-196.
-
(2000)
Breast Cancer Res.
, vol.2
, Issue.3
, pp. 191-196
-
-
Dickson, C.1
Spencer-Dene, B.2
Dillon, C.3
Fantl, V.4
-
101
-
-
18144413583
-
Fibroblast Growth Factor Signaling in Tumorigenesis
-
R. Grose and C. Dickson (2005) Fibroblast Growth Factor Signaling in Tumorigenesis. Cytokine Growth Factor Rev. 16(2), 179-186.
-
(2005)
Cytokine Growth Factor Rev.
, vol.16
, Issue.2
, pp. 179-186
-
-
Grose, R.1
Dickson, C.2
-
103
-
-
0016434225
-
Older Paternal Age and Fresh Gene Mutation: Data on Additional Disorders
-
K.L. Jones, D.W. Smith, M.A. Harvey, B.D. Hall and L. Quan (1975) Older Paternal Age and Fresh Gene Mutation: Data on Additional Disorders. J. Pediatr. 86(1), 84-88.
-
(1975)
J. Pediatr.
, vol.86
, Issue.1
, pp. 84-88
-
-
Jones, K.L.1
Smith, D.W.2
Harvey, M.A.3
Hall, B.D.4
Quan, L.5
-
104
-
-
0033941757
-
Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome
-
R.L. Glaser, W. Jiang, S.A. Boyadjiev, A.K. Tran, A.A. Zachary, L. Van Maldergem, D. Johnson, S. Walsh, M. Oldridge, S.A. Wall, et al. (2000) Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome. Am. J. Hum. Genet. 66(3), 768-777.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, Issue.3
, pp. 768-777
-
-
Glaser, R.L.1
Jiang, W.2
Boyadjiev, S.A.3
Tran, A.K.4
Zachary, A.A.5
Van Maldergem, L.6
Johnson, D.7
Walsh, S.8
Oldridge, M.9
Wall, S.A.10
-
105
-
-
0029983638
-
Exclusive Paternal Origin of New Mutations in Apert Syndrome
-
D.M. Moloney, S.F. Slaney, M. Oldridge, S.A. Wall, P. Sahlin, G. Stenman and A.O. Wilkie (1996) Exclusive Paternal Origin of New Mutations in Apert Syndrome. Nat. Genet. 13(1), 48-53.
-
(1996)
Nat. Genet.
, vol.13
, Issue.1
, pp. 48-53
-
-
Moloney, D.M.1
Slaney, S.F.2
Oldridge, M.3
Wall, S.A.4
Sahlin, P.5
Stenman, G.6
Wilkie, A.O.7
-
106
-
-
4344629742
-
Paternal Origin of FGFR3 Mutations in Muenke-Type Craniosynostosis
-
S.V. Rannan-Eliya, I.B. Taylor, I.M. De Heer, A.M. Van Den Ouweland, S.A. Wall and A.O. Wilkie (2004) Paternal Origin of FGFR3 Mutations in Muenke-Type Craniosynostosis. Hum. Genet. 115(3), 200-207.
-
(2004)
Hum. Genet.
, vol.115
, Issue.3
, pp. 200-207
-
-
Rannan-Eliya, S.V.1
Taylor, I.B.2
De Heer, I.M.3
Van Den Ouweland, A.M.4
Wall, S.A.5
Wilkie, A.O.6
-
107
-
-
84856922362
-
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
-
A. Goriely and A.O. Wilkie (2012) Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease. Am. J. Hum. Genet. 90(2), 175-200.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, Issue.2
, pp. 175-200
-
-
Goriely, A.1
Wilkie, A.O.2
-
108
-
-
0029060696
-
Dorso–Ventral and Rostro–Caudal Sequential Expression of M-Twist in the Postimplantation Murine Embryo
-
C. Stoetzel, B. Weber, P. Bourgeois, A.L. Bolcato-Bellemin and F. Perrin-Schmitt (1995) Dorso–Ventral and Rostro–Caudal Sequential Expression of M-Twist in the Postimplantation Murine Embryo. Mech. Dev. 51(2–3), 251-263.
-
(1995)
Mech. Dev.
, vol.51
, Issue.2-3
, pp. 251-263
-
-
Stoetzel, C.1
Weber, B.2
Bourgeois, P.3
Bolcato-Bellemin, A.L.4
Perrin-Schmitt, F.5
-
109
-
-
0028845726
-
Expression of M-Twist during Postimplantation Development of the Mouse
-
E.M. Fuchtbauer (1995) Expression of M-Twist during Postimplantation Development of the Mouse. Dev. Dyn. 204(3), 316-322.
-
(1995)
Dev. Dyn.
, vol.204
, Issue.3
, pp. 316-322
-
-
Fuchtbauer, E.M.1
-
110
-
-
0034002459
-
Expression Patterns of Twist and FGFR1, -2 and -3 in the Developing Mouse coronal Suture Suggest a Key Role for Twist in Suture Initiation and Biogenesis
-
D. Johnson, S. Iseki, A.O. Wilkie and G.M. Morriss-Kay (2000) Expression Patterns of Twist and FGFR1, -2 and -3 in the Developing Mouse coronal Suture Suggest a Key Role for Twist in Suture Initiation and Biogenesis. Mech. Dev. 91(1–2), 341-345.
-
(2000)
Mech. Dev.
, vol.91
, Issue.1-2
, pp. 341-345
-
-
Johnson, D.1
Iseki, S.2
Wilkie, A.O.3
Morriss-Kay, G.M.4
-
111
-
-
10744226304
-
Increased Risk for Developmental Delay in Saethre–Chotzen Syndrome Is Associated with TWIST Deletions: An Improved Strategy for TWIST Mutation Screening
-
J. Cai, B.K. Goodman, A.S. Patel, J.B. Mulliken, L. Van Maldergem, G.E. Hoganson, W.A. Paznekas, Z. Ben-Neriah, R. Sheffer, M.L. Cunningham, D.L. Daentl and E.W. Jabs (2003) Increased Risk for Developmental Delay in Saethre–Chotzen Syndrome Is Associated with TWIST Deletions: An Improved Strategy for TWIST Mutation Screening. Hum. Genet. 114(1), 68-76.
-
(2003)
Hum. Genet.
, vol.114
, Issue.1
, pp. 68-76
-
-
Cai, J.1
Goodman, B.K.2
Patel, A.S.3
Mulliken, J.B.4
Van Maldergem, L.5
Hoganson, G.E.6
Paznekas, W.A.7
Ben-Neriah, Z.8
Sheffer, R.9
Cunningham, M.L.10
Daentl, D.L.11
Jabs, E.W.12
-
112
-
-
0032231374
-
A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p.21.1
-
D. Johnson, S.W. Horsley, D.M. Moloney, M. Oldridge, S.R. Twigg, S. Walsh, M. Barrow, P.R. Njolstad, J. Kunz, G.J. Ashworth, et al. (1998) A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p.21.1. Am. J. Hum. Genet. 63(5), 1282-1293.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, Issue.5
, pp. 1282-1293
-
-
Johnson, D.1
Horsley, S.W.2
Moloney, D.M.3
Oldridge, M.4
Twigg, S.R.5
Walsh, S.6
Barrow, M.7
Njolstad, P.R.8
Kunz, J.9
Ashworth, G.J.10
-
113
-
-
0035078623
-
Pure Partial 7p Trisomy Including the TWIST, HOXA, and GLI3 Genes
-
A. Megarbane, H.M. Le Lorc, H. Elghezal, G. Joly, P. Gosset, N. Souraty, L. Samaras, M. Prieur, M. Vekemans, C. Turleau, et al. (2001) Pure Partial 7p Trisomy Including the TWIST, HOXA, and GLI3 Genes. J. Med. Genet. 38(3), 178-182.
-
(2001)
J. Med. Genet.
, vol.38
, Issue.3
, pp. 178-182
-
-
Megarbane, A.1
Le Lorc, H.M.2
Elghezal, H.3
Joly, G.4
Gosset, P.5
Souraty, N.6
Samaras, L.7
Prieur, M.8
Vekemans, M.9
Turleau, C.10
-
114
-
-
17944369777
-
Phenotypic Findings due to Trisomy 7p.15.3–pter Including the TWIST Locus
-
P. Stankiewicz, H. Thiele, C. Baldermann, A. Kruger, I. Giannakudis, S. Dorr, N. Werner, J. Kunz, G.A. Rappold and I. Hansmann (2001) Phenotypic Findings due to Trisomy 7p.15.3–pter Including the TWIST Locus. Am. J. Med. Genet. 103(1), 56-62.
-
(2001)
Am. J. Med. Genet.
, vol.103
, Issue.1
, pp. 56-62
-
-
Stankiewicz, P.1
Thiele, H.2
Baldermann, C.3
Kruger, A.4
Giannakudis, I.5
Dorr, S.6
Werner, N.7
Kunz, J.8
Rappold, G.A.9
Hansmann, I.10
-
115
-
-
2442666462
-
Deletion of the TWIST Gene in a Large Five-Generation Family
-
I.M. De Heer, A.J. Hoogeboom, H.J. Eussen, J.M. Vaandrager, A. DeKlein and A. De Klein (2004) Deletion of the TWIST Gene in a Large Five-Generation Family. Clin. Genet. 65(5), 396-399.
-
(2004)
Clin. Genet.
, vol.65
, Issue.5
, pp. 396-399
-
-
De Heer, I.M.1
Hoogeboom, A.J.2
Eussen, H.J.3
Vaandrager, J.M.4
DeKlein, A.5
De Klein, A.6
-
116
-
-
0031012353
-
Mutations of the TWIST Gene in the Saethre–Chotzen Syndrome
-
V. el Ghouzzi, M. Le Merrer, F. Perrin-Schmitt, E. Lajeunie, P. Benit, D. Renier, P. Bourgeois, A.L. Bolcato-Bellemin, A. Munnich and J. Bonaventure (1997) Mutations of the TWIST Gene in the Saethre–Chotzen Syndrome. Nat. Genet. 15(1), 42-46.
-
(1997)
Nat. Genet.
, vol.15
, Issue.1
, pp. 42-46
-
-
el Ghouzzi, V.1
Le Merrer, M.2
Perrin-Schmitt, F.3
Lajeunie, E.4
Benit, P.5
Renier, D.6
Bourgeois, P.7
Bolcato-Bellemin, A.L.8
Munnich, A.9
Bonaventure, J.10
-
117
-
-
0035213012
-
A Survey of TWIST for Mutations in Craniosynostosis Reveals a Variable Length Polyglycine Tract in Asymptomatic Individuals
-
N. Elanko, J.S. Sibbring, K.A. Metcalfe, J. Clayton-Smith, D. Donnai, I.K. Temple, S.A. Wall and A.O. Wilkie (2001) A Survey of TWIST for Mutations in Craniosynostosis Reveals a Variable Length Polyglycine Tract in Asymptomatic Individuals. Hum. Mutat. 18(6), 535-541.
-
(2001)
Hum. Mutat.
, vol.18
, Issue.6
, pp. 535-541
-
-
Elanko, N.1
Sibbring, J.S.2
Metcalfe, K.A.3
Clayton-Smith, J.4
Donnai, D.5
Temple, I.K.6
Wall, S.A.7
Wilkie, A.O.8
-
119
-
-
0031021336
-
Mutations in TWIST, a Basic Helix–Loop–Helix Transcription Factor, in Saethre–Chotzen Syndrome
-
T.D. Howard, W.A. Paznekas, E.D. Green, L.C. Chiang, N. Ma, R.I. Ortiz de Luna, C. Garcia Delgado, M. Gonzalez-Ramos, A.D. Kline and E.W. Jabs (1997) Mutations in TWIST, a Basic Helix–Loop–Helix Transcription Factor, in Saethre–Chotzen Syndrome. Nat. Genet. 15(1), 36-41.
-
(1997)
Nat. Genet.
, vol.15
, Issue.1
, pp. 36-41
-
-
Howard, T.D.1
Paznekas, W.A.2
Green, E.D.3
Chiang, L.C.4
Ma, N.5
Ortiz de Luna, R.I.6
Garcia Delgado, C.7
Gonzalez-Ramos, M.8
Kline, A.D.9
Jabs, E.W.10
-
120
-
-
0034701320
-
Saethre–Chotzen Mutations Cause TWIST Protein Degradation or Impaired Nuclear Location
-
V. El Ghouzzi, L. Legeai-Mallet, S. Aresta, C. Benoist, A. Munnich, J. de Gunzburg and J. Bonaventure (2000) Saethre–Chotzen Mutations Cause TWIST Protein Degradation or Impaired Nuclear Location. Hum. Mol. Genet. 9(5), 813-819.
-
(2000)
Hum. Mol. Genet.
, vol.9
, Issue.5
, pp. 813-819
-
-
El Ghouzzi, V.1
Legeai-Mallet, L.2
Aresta, S.3
Benoist, C.4
Munnich, A.5
de Gunzburg, J.6
Bonaventure, J.7
-
121
-
-
12144288066
-
A Twist Code Determines the Onset of Osteoblast Differentiation
-
P. Bialek, B. Kern, X. Yang, M. Schrock, D. Sosic, N. Hong, H. Wu, K. Yu, D.M. Ornitz, E.N. Olson, et al. (2004) A Twist Code Determines the Onset of Osteoblast Differentiation. Dev. Cell 6(3), 423-435.
-
(2004)
Dev. Cell
, vol.6
, Issue.3
, pp. 423-435
-
-
Bialek, P.1
Kern, B.2
Yang, X.3
Schrock, M.4
Sosic, D.5
Hong, N.6
Wu, H.7
Yu, K.8
Ornitz, D.M.9
Olson, E.N.10
-
122
-
-
0031832127
-
The Variable Expressivity and Incomplete Penetrance of the Twist-Null Heterozygous Mouse Phenotype Resemble Those of Human Saethre–Chotzen Syndrome
-
P. Bourgeois, A.L. Bolcato-Bellemin, J.M. Danse, A. Bloch-Zupan, K. Yoshiba, C. Stoetzel and F. Perrin-Schmitt (1998) The Variable Expressivity and Incomplete Penetrance of the Twist-Null Heterozygous Mouse Phenotype Resemble Those of Human Saethre–Chotzen Syndrome. Hum. Mol. Genet. 7(6), 945-957.
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.6
, pp. 945-957
-
-
Bourgeois, P.1
Bolcato-Bellemin, A.L.2
Danse, J.M.3
Bloch-Zupan, A.4
Yoshiba, K.5
Stoetzel, C.6
Perrin-Schmitt, F.7
-
123
-
-
0034106166
-
Integration of FGF and TWIST in Calvarial Bone and Suture Development
-
D.P. Rice, T. Aberg, Y. Chan, Z. Tang, P.J. Kettunen, L. Pakarinen, R.E. Maxson and I. Thesleff (2000) Integration of FGF and TWIST in Calvarial Bone and Suture Development. Development 127(9), 1845-1855.
-
(2000)
Development
, vol.127
, Issue.9
, pp. 1845-1855
-
-
Rice, D.P.1
Aberg, T.2
Chan, Y.3
Tang, Z.4
Kettunen, P.J.5
Pakarinen, L.6
Maxson, R.E.7
Thesleff, I.8
-
124
-
-
0029800845
-
The Molecular Basis of Boston-Type Craniosynostosis: The Pro148––>His Mutation in the N-Terminal Arm of the MSX2 Homeodomain Stabilizes DNA Binding without Altering Nucleotide Sequence Preferences
-
L. Ma, S. Golden, L. Wu and R. Maxson (1996) The Molecular Basis of Boston-Type Craniosynostosis: The Pro148––>His Mutation in the N-Terminal Arm of the MSX2 Homeodomain Stabilizes DNA Binding without Altering Nucleotide Sequence Preferences. Hum. Mol. Genet. 5(12), 1915-1920.
-
(1996)
Hum. Mol. Genet.
, vol.5
, Issue.12
, pp. 1915-1920
-
-
Ma, L.1
Golden, S.2
Wu, L.3
Maxson, R.4
-
125
-
-
4444305202
-
Craniosynostosis with Extra Copy of MSX2 in a Patient with Partial 5q-Trisomy
-
T. Shiihara, M. Kato, T. Kimura, K. Hayasaka, S. Yamamori and T. Ogata (2004) Craniosynostosis with Extra Copy of MSX2 in a Patient with Partial 5q-Trisomy. Am. J. Med. Genet. A 128A(2), 214-216.
-
(2004)
Am. J. Med. Genet. A
, vol.128A
, Issue.2
, pp. 214-216
-
-
Shiihara, T.1
Kato, M.2
Kimura, T.3
Hayasaka, K.4
Yamamori, S.5
Ogata, T.6
-
126
-
-
0029031566
-
Premature Suture Closure and Ectopic Cranial Bone in Mice Expressing Msx2 Transgenes in the Developing Skull
-
Y.H. Liu, R. Kundu, L. Wu, W. Luo, M.A. Ignelzi Jr., M.L. Snead and R.E. Maxson Jr. (1995) Premature Suture Closure and Ectopic Cranial Bone in Mice Expressing Msx2 Transgenes in the Developing Skull. Proc. Natl. Acad. Sci. U.S.A. 92(13), 6137-6141.
-
(1995)
Proc. Natl. Acad. Sci. U.S.A.
, vol.92
, Issue.13
, pp. 6137-6141
-
-
Liu, Y.H.1
Kundu, R.2
Wu, L.3
Luo, W.4
Ignelzi, M.A.5
Snead, M.L.6
Maxson, R.E.7
-
127
-
-
8044228418
-
Perinatal Lethality and Multiple Craniofacial Malformations in MSX2 Transgenic Mice
-
J. Winograd, M.P. Reilly, R. Roe, J. Lutz, E. Laughner, X. Xu, L. Hu, T. Asakura, C. vander Kolk, J.D. Strandberg and G.L. Semenza (1997) Perinatal Lethality and Multiple Craniofacial Malformations in MSX2 Transgenic Mice. Hum. Mol. Genet. 6(3), 369-379.
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.3
, pp. 369-379
-
-
Winograd, J.1
Reilly, M.P.2
Roe, R.3
Lutz, J.4
Laughner, E.5
Xu, X.6
Hu, L.7
Asakura, T.8
vander Kolk, C.9
Strandberg, J.D.10
Semenza, G.L.11
-
128
-
-
0034029571
-
Msx2 deficiency in mice causes Pleiotropic Defects in Bone Growth and Ectodermal Organ Formation
-
I. Satokata, L. Ma, H. Ohshima, M. Bei, I. Woo, K. Nishizawa, T. Maeda, Y. Takano, M. Uchiyama, S. Heaney, et al. (2000) Msx2 deficiency in mice causes Pleiotropic Defects in Bone Growth and Ectodermal Organ Formation. Nat. Genet. 24(4), 391-395.
-
(2000)
Nat. Genet.
, vol.24
, Issue.4
, pp. 391-395
-
-
Satokata, I.1
Ma, L.2
Ohshima, H.3
Bei, M.4
Woo, I.5
Nishizawa, K.6
Maeda, T.7
Takano, Y.8
Uchiyama, M.9
Heaney, S.10
-
129
-
-
0034074417
-
Functional Haploinsufficiency of the Human Homeobox Gene MSX2 Causes Defects in Skull Ossification
-
A.O. Wilkie, Z. Tang, N. Elanko, S. Walsh, S.R. Twigg, J.A. Hurst, S.A. Wall, K.H. Chrzanowska and R.E. Maxson Jr. (2000) Functional Haploinsufficiency of the Human Homeobox Gene MSX2 Causes Defects in Skull Ossification. Nat. Genet. 24(4), 387-390.
-
(2000)
Nat. Genet.
, vol.24
, Issue.4
, pp. 387-390
-
-
Wilkie, A.O.1
Tang, Z.2
Elanko, N.3
Walsh, S.4
Twigg, S.R.5
Hurst, J.A.6
Wall, S.A.7
Chrzanowska, K.H.8
Maxson, R.E.9
-
130
-
-
0034192384
-
Identification of Mutations in the MSX2 Homeobox Gene in Families Affected with Foramina Parietalia Permagna
-
W. Wuyts, W. Reardon, S. Preis, T. Homfray, A. Rasore-Quartino, H. Christians, P.J. Willems and W. Van Hul (2000) Identification of Mutations in the MSX2 Homeobox Gene in Families Affected with Foramina Parietalia Permagna. Hum. Mol. Genet. 9(8), 1251-1255.
-
(2000)
Hum. Mol. Genet.
, vol.9
, Issue.8
, pp. 1251-1255
-
-
Wuyts, W.1
Reardon, W.2
Preis, S.3
Homfray, T.4
Rasore-Quartino, A.5
Christians, H.6
Willems, P.J.7
Van Hul, W.8
-
131
-
-
0035158663
-
Haploinsufficiency of the Human Homeobox Gene ALX4 Causes Skull Ossification Defects
-
L.A. Mavrogiannis, I. Antonopoulou, A. Baxova, S. Kutilek, C.A. Kim, S.M. Sugayama, A. Salamanca, S.A. Wall, G.M. Morriss-Kay and A.O. Wilkie (2001) Haploinsufficiency of the Human Homeobox Gene ALX4 Causes Skull Ossification Defects. Nat. Genet. 27(1), 17-18.
-
(2001)
Nat. Genet.
, vol.27
, Issue.1
, pp. 17-18
-
-
Mavrogiannis, L.A.1
Antonopoulou, I.2
Baxova, A.3
Kutilek, S.4
Kim, C.A.5
Sugayama, S.M.6
Salamanca, A.7
Wall, S.A.8
Morriss-Kay, G.M.9
Wilkie, A.O.10
-
132
-
-
3042599056
-
Alx4 and Msx2 Play Phenotypically Similar and Additive Roles in Skull Vault Differentiation
-
I. Antonopoulou, L.A. Mavrogiannis, A.O. Wilkie and G.M. Morriss-Kay (2004) Alx4 and Msx2 Play Phenotypically Similar and Additive Roles in Skull Vault Differentiation. J. Anat. 204(6), 487-499.
-
(2004)
J. Anat.
, vol.204
, Issue.6
, pp. 487-499
-
-
Antonopoulou, I.1
Mavrogiannis, L.A.2
Wilkie, A.O.3
Morriss-Kay, G.M.4
-
133
-
-
0036303033
-
Mechanisms and Functions of Eph and Ephrin Signaling
-
K. Kullander and R. Klein (2002) Mechanisms and Functions of Eph and Ephrin Signaling. Nat. Rev. Mol. Cell Biol. 3(7), 475-486.
-
(2002)
Nat. Rev. Mol. Cell Biol.
, vol.3
, Issue.7
, pp. 475-486
-
-
Kullander, K.1
Klein, R.2
-
134
-
-
0035287473
-
Multiple Roles of EPH Receptors and Ephrins in Neural Development
-
D.G. Wilkinson (2001) Multiple Roles of EPH Receptors and Ephrins in Neural Development. Nat. Rev. Neurosci. 2(3), 155-164.
-
(2001)
Nat. Rev. Neurosci.
, vol.2
, Issue.3
, pp. 155-164
-
-
Wilkinson, D.G.1
-
135
-
-
2942560339
-
Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome
-
S.R. Twigg, R. Kan, C. Babbs, E.G. Bochukova, S.P. Robertson, S.A. Wall, G.M. Morriss-Kay and A.O. Wilkie (2004) Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome. Proc. Natl. Acad Sci. U.S.A. 101(23), 8652-8657.
-
(2004)
Proc. Natl. Acad Sci. U.S.A.
, vol.101
, Issue.23
, pp. 8652-8657
-
-
Twigg, S.R.1
Kan, R.2
Babbs, C.3
Bochukova, E.G.4
Robertson, S.P.5
Wall, S.A.6
Morriss-Kay, G.M.7
Wilkie, A.O.8
-
136
-
-
0042442460
-
Control of Skeletal Patterning by Ephrinb1–EphB Interactions
-
A. Compagni, M. Logan, R. Klein and R.H. Adams (2003) Control of Skeletal Patterning by Ephrinb1–EphB Interactions. Dev. Cell 5(2), 217-230.
-
(2003)
Dev. Cell
, vol.5
, Issue.2
, pp. 217-230
-
-
Compagni, A.1
Logan, M.2
Klein, R.3
Adams, R.H.4
-
137
-
-
33645810601
-
Cell Mixing at a Neural Crest-Mesoderm Boundary and Deficient Ephrin-Eph Signaling in the Pathogenesis of Craniosynostosis
-
A.E. Merrill, E.G. Bochukova, S.M. Brugger, M. Ishii, D.T. Pilz, S.A. Wall, K.M. Lyons, A.O.M. Wilkie and R.E. Maxson (2006) Cell Mixing at a Neural Crest-Mesoderm Boundary and Deficient Ephrin-Eph Signaling in the Pathogenesis of Craniosynostosis. Hum. Mol. Genet. 15(8), 1319-1328.
-
(2006)
Hum. Mol. Genet.
, vol.15
, Issue.8
, pp. 1319-1328
-
-
Merrill, A.E.1
Bochukova, E.G.2
Brugger, S.M.3
Ishii, M.4
Pilz, D.T.5
Wall, S.A.6
Lyons, K.M.7
Wilkie, A.O.M.8
Maxson, R.E.9
-
138
-
-
0037364415
-
RecQ Helicases: Caretakers of the Genome
-
I.D. Hickson (2003) RecQ Helicases: Caretakers of the Genome. Nat. Rev. Cancer 3(3), 169-178.
-
(2003)
Nat. Rev. Cancer
, vol.3
, Issue.3
, pp. 169-178
-
-
Hickson, I.D.1
-
139
-
-
19544366597
-
RECQL4, Mutated in the Rothmund–Thomson and RAPADILINO Syndromes, Interacts with Ubiquitin Ligases UBR1 and UBR2 of the N-End Rule Pathway
-
J. Yin, Y.T. Kwon, A. Varshavsky and W. Wang (2004) RECQL4, Mutated in the Rothmund–Thomson and RAPADILINO Syndromes, Interacts with Ubiquitin Ligases UBR1 and UBR2 of the N-End Rule Pathway. Hum. Mol. Genet. 13(20), 2421-2430.
-
(2004)
Hum. Mol. Genet.
, vol.13
, Issue.20
, pp. 2421-2430
-
-
Yin, J.1
Kwon, Y.T.2
Varshavsky, A.3
Wang, W.4
-
140
-
-
58349104333
-
The Mutation Spectrum in RECQL4 Diseases
-
H.A. Siitonen, J. Sotkasiira, M. Biervliet, A. Benmansour, Y. Capri, V. Cormier-Daire, B. Crandall, K. Hannula-Jouppi, R. Hennekam, D. Herzog, et al. (2009) The Mutation Spectrum in RECQL4 Diseases. Eur. J. Hum. Genet. 17(2), 151-158.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, Issue.2
, pp. 151-158
-
-
Siitonen, H.A.1
Sotkasiira, J.2
Biervliet, M.3
Benmansour, A.4
Capri, Y.5
Cormier-Daire, V.6
Crandall, B.7
Hannula-Jouppi, K.8
Hennekam, R.9
Herzog, D.10
-
141
-
-
15544389502
-
Defective Sister-Chromatid Cohesion, Aneuploidy and Cancer Predisposition in a Mouse Model of Type II Rothmund–Thomson Syndrome
-
M.B. Mann, C.A. Hodges, E. Barnes, H. Vogel, T.J. Hassold and G. Luo (2005) Defective Sister-Chromatid Cohesion, Aneuploidy and Cancer Predisposition in a Mouse Model of Type II Rothmund–Thomson Syndrome. Hum. Mol. Genet. 14(6), 813-825.
-
(2005)
Hum. Mol. Genet.
, vol.14
, Issue.6
, pp. 813-825
-
-
Mann, M.B.1
Hodges, C.A.2
Barnes, E.3
Vogel, H.4
Hassold, T.J.5
Luo, G.6
-
142
-
-
0041468898
-
Identification of Novel Roles of the Cytochrome p.450 System in Early Embryogenesis: Effects on Vasculogenesis and Retinoic Acid Homeostasis
-
D.M. Otto, C.J. Henderson, D. Carrie, M. Davey, T.E. Gundersen, R. Blomhoff, R.H. Adams, C. Tickle and C.R. Wolf (2003) Identification of Novel Roles of the Cytochrome p.450 System in Early Embryogenesis: Effects on Vasculogenesis and Retinoic Acid Homeostasis. Mol. Cell Biol. 23(17), 6103-6116.
-
(2003)
Mol. Cell Biol.
, vol.23
, Issue.17
, pp. 6103-6116
-
-
Otto, D.M.1
Henderson, C.J.2
Carrie, D.3
Davey, M.4
Gundersen, T.E.5
Blomhoff, R.6
Adams, R.H.7
Tickle, C.8
Wolf, C.R.9
-
143
-
-
0037155271
-
Association of Multiple Developmental Defects and Embryonic Lethality with Loss of Microsomal NADPH-Cytochrome P450 Oxidoreductase
-
A.L. Shen, K.A. O’Leary and C.B. Kasper (2002) Association of Multiple Developmental Defects and Embryonic Lethality with Loss of Microsomal NADPH-Cytochrome P450 Oxidoreductase. J. Biol. Chem. 277(8), 6536-6541.
-
(2002)
J. Biol. Chem.
, vol.277
, Issue.8
, pp. 6536-6541
-
-
Shen, A.L.1
O’Leary, K.A.2
Kasper, C.B.3
-
144
-
-
3342918965
-
Compound Heterozygous Mutations of Cytochrome P450 Oxidoreductase Gene (POR) in Two Patients with Antley–Bixler Syndrome
-
M. Adachi, K. Tachibana, Y. Asakura, T. Yamamoto, K. Hanaki and A. Oka (2004) Compound Heterozygous Mutations of Cytochrome P450 Oxidoreductase Gene (POR) in Two Patients with Antley–Bixler Syndrome. Am. J. Med. Genet. A 128A(4), 333-339.
-
(2004)
Am. J. Med. Genet. A
, vol.128A
, Issue.4
, pp. 333-339
-
-
Adachi, M.1
Tachibana, K.2
Asakura, Y.3
Yamamoto, T.4
Hanaki, K.5
Oka, A.6
-
145
-
-
19944429961
-
Cytochrome P450 Oxidoreductase Gene Mutations and Antley–Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients
-
M. Fukami, R. Horikawa, T. Nagai, T. Tanaka, Y. Naiki, N. Sato, T. Okuyama, H. Nakai, S. Soneda, K. Tachibana, et al. (2005) Cytochrome P450 Oxidoreductase Gene Mutations and Antley–Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients. J. Clin. Endocrinol. Metab. 90(1), 414-426.
-
(2005)
J. Clin. Endocrinol. Metab.
, vol.90
, Issue.1
, pp. 414-426
-
-
Fukami, M.1
Horikawa, R.2
Nagai, T.3
Tanaka, T.4
Naiki, Y.5
Sato, N.6
Okuyama, T.7
Nakai, H.8
Soneda, S.9
Tachibana, K.10
-
146
-
-
20244367932
-
Diversity and Function of Mutations in p450 Oxidoreductase in Patients with Antley–Bixler Syndrome and Disordered Steroidogenesis
-
N. Huang, A.V. Pandey, V. Agrawal, W. Reardon, P.D. Lapunzina, D. Mowat, E.W. Jabs, G. Van Vliet, J. Sack, C.E. Fluck, et al. (2005) Diversity and Function of Mutations in p450 Oxidoreductase in Patients with Antley–Bixler Syndrome and Disordered Steroidogenesis. Am. J. Hum. Genet. 76(5), 729-749.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, Issue.5
, pp. 729-749
-
-
Huang, N.1
Pandey, A.V.2
Agrawal, V.3
Reardon, W.4
Lapunzina, P.D.5
Mowat, D.6
Jabs, E.W.7
Van Vliet, G.8
Sack, J.9
Fluck, C.E.10
-
147
-
-
22944444569
-
Structural Basis of Family-Wide Rab GTPase Recognition by Rabenosyn-5
-
S. Eathiraj, X. Pan, C. Ritacco and D.G. Lambright (2005) Structural Basis of Family-Wide Rab GTPase Recognition by Rabenosyn-5. Nature 436(7049), 415-419.
-
(2005)
Nature
, vol.436
, Issue.7049
, pp. 415-419
-
-
Eathiraj, S.1
Pan, X.2
Ritacco, C.3
Lambright, D.G.4
-
148
-
-
0035798385
-
Evolution of the Rab Family of Small GTP-Binding Proteins
-
J.B. Pereira-Leal and M.C. Seabra (2001) Evolution of the Rab Family of Small GTP-Binding Proteins. J. Mol. Biol. 313(4), 889-901.
-
(2001)
J. Mol. Biol.
, vol.313
, Issue.4
, pp. 889-901
-
-
Pereira-Leal, J.B.1
Seabra, M.C.2
-
149
-
-
0034714098
-
The Mammalian Rab Family of Small GTPases: Definition of Family and Subfamily Sequence Motifs Suggests a Mechanism for Functional Specificity in the Ras Superfamily
-
J.B. Pereira-Leal and M.C. Seabra (2000) The Mammalian Rab Family of Small GTPases: Definition of Family and Subfamily Sequence Motifs Suggests a Mechanism for Functional Specificity in the Ras Superfamily. J. Mol. Biol. 301(4), 1077-1087.
-
(2000)
J. Mol. Biol.
, vol.301
, Issue.4
, pp. 1077-1087
-
-
Pereira-Leal, J.B.1
Seabra, M.C.2
-
150
-
-
30444458514
-
Expression Patterns of Hedgehog Signaling Pathway Members during Mouse Palate Development
-
R. Rice, E. Connor and D.P. Rice (2006) Expression Patterns of Hedgehog Signaling Pathway Members during Mouse Palate Development. Gene Expr. Patterns 6(2), 206-212.
-
(2006)
Gene Expr. Patterns
, vol.6
, Issue.2
, pp. 206-212
-
-
Rice, R.1
Connor, E.2
Rice, D.P.3
-
151
-
-
0032560518
-
A Phenotype-Based Screen for Embryonic Lethal Mutations in the Mouse
-
A. Kasarskis, K. Manova and K.V. Anderson (1998) A Phenotype-Based Screen for Embryonic Lethal Mutations in the Mouse. Proc. Natl. Acad. Sci. U.S.A. 95(13), 7485-7490.
-
(1998)
Proc. Natl. Acad. Sci. U.S.A.
, vol.95
, Issue.13
, pp. 7485-7490
-
-
Kasarskis, A.1
Manova, K.2
Anderson, K.V.3
-
152
-
-
33745261812
-
GL13 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes
-
M.P. Epstein, R.P. Erickson, A. Wynshaw-Boris (Eds), Oxford, United Kingdom: Oxford University Press
-
L.G. Biesecker (2004) GL13 and the Pallister–Hall and Greig Cephalopolysyndactyly Syndromes. M.P. Epstein, R.P. Erickson, A. Wynshaw-Boris (Eds) Inborn Errors of Development Oxford, United Kingdom: Oxford University Press 257-264.
-
(2004)
Inborn Errors of Development
, pp. 257-264
-
-
Biesecker, L.G.1
-
153
-
-
20844447535
-
Interleukin-11 Receptor Signaling Is Required for Normal Bone Remodeling
-
N.A. Sims, B.J. Jenkins, A. Nakamura, J.M. Quinn, R. Li, M.T. Gillespie, M. Ernst, L. Robb and T.J. Martin (2005) Interleukin-11 Receptor Signaling Is Required for Normal Bone Remodeling. J. Bone Miner. Res. 20(7), 1093-1102.
-
(2005)
J. Bone Miner. Res.
, vol.20
, Issue.7
, pp. 1093-1102
-
-
Sims, N.A.1
Jenkins, B.J.2
Nakamura, A.3
Quinn, J.M.4
Li, R.5
Gillespie, M.T.6
Ernst, M.7
Robb, L.8
Martin, T.J.9
-
154
-
-
0032079686
-
Activation of the Signal Transducer gp130 by Interleukin-11 and Interleukin-6 Is Mediated by Similar Molecular Interactions
-
H. Dahmen, U. Horsten, A. Kuster, Y. Jacques, S. Minvielle, I.M. Kerr, G. Ciliberto, G. Paonessa, P.C. Heinrich and G. Muller-Newen (1998) Activation of the Signal Transducer gp130 by Interleukin-11 and Interleukin-6 Is Mediated by Similar Molecular Interactions. Biochem. J. 331(Pt 3), 695-702.
-
(1998)
Biochem. J.
, vol.331
, pp. 695-702
-
-
Dahmen, H.1
Horsten, U.2
Kuster, A.3
Jacques, Y.4
Minvielle, S.5
Kerr, I.M.6
Ciliberto, G.7
Paonessa, G.8
Heinrich, P.C.9
Muller-Newen, G.10
-
155
-
-
0029152872
-
Interleukin (IL)-11-Mediated Signal Transduction
-
discussion 40–31
-
Y.C. Yang and T. Yin (1995) Interleukin (IL)-11-Mediated Signal Transduction. Ann. N.Y.Acad. Sci. 762 31-40. discussion 40–31
-
(1995)
Ann. N.Y.Acad. Sci.
, vol.762
, pp. 31-40
-
-
Yang, Y.C.1
Yin, T.2
-
156
-
-
69249214104
-
gp130 Signaling in Bone Cell Biology: Multiple Roles Revealed by Analysis of Genetically Altered Mice
-
N.A. Sims (2009) gp130 Signaling in Bone Cell Biology: Multiple Roles Revealed by Analysis of Genetically Altered Mice. Mol. Cell. Endocrinol. 310(1–2), 30-39.
-
(2009)
Mol. Cell. Endocrinol.
, vol.310
, Issue.1-2
, pp. 30-39
-
-
Sims, N.A.1
-
157
-
-
20144387269
-
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
-
J.J. Johnston, I. Olivos-Glander, C. Killoran, E. Elson, J.T. Turner, K.F. Peters, M.H. Abbott, D.J. Aughton, A.S. Aylsworth, M.J. Bamshad, et al. (2005) Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations. Am. J. Hum. Genet. 76(4), 609-622.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, Issue.4
, pp. 609-622
-
-
Johnston, J.J.1
Olivos-Glander, I.2
Killoran, C.3
Elson, E.4
Turner, J.T.5
Peters, K.F.6
Abbott, M.H.7
Aughton, D.J.8
Aylsworth, A.S.9
Bamshad, M.J.10
-
158
-
-
79959277963
-
Metopic and Sagittal Synostosis in Greig Cephalopolysyndactyly Syndrome: Five Cases with Intragenic Mutations or Complete Deletions of GLI3
-
J.A. Hurst, D. Jenkins, P.C. Vasudevan, M. Kirchhoff, F. Skovby, C. Rieubland, S. Gallati, O. Rittinger, P.M. Kroisel, D. Johnson, et al. (2011) Metopic and Sagittal Synostosis in Greig Cephalopolysyndactyly Syndrome: Five Cases with Intragenic Mutations or Complete Deletions of GLI3. Eur. J. Hum. Genet. 19(7), 757-762.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, Issue.7
, pp. 757-762
-
-
Hurst, J.A.1
Jenkins, D.2
Vasudevan, P.C.3
Kirchhoff, M.4
Skovby, F.5
Rieubland, C.6
Gallati, S.7
Rittinger, O.8
Kroisel, P.M.9
Johnson, D.10
-
159
-
-
0036808813
-
Craniosynostosis in Alagille Syndrome
-
B.M. Kamath, C. Stolle, L. Bason, R.P. Colliton, D.A. Piccoli, N.B. Spinner and I.D. Krantz (2002) Craniosynostosis in Alagille Syndrome. Am. J. Med. Genet. 112(2), 176-180.
-
(2002)
Am. J. Med. Genet.
, vol.112
, Issue.2
, pp. 176-180
-
-
Kamath, B.M.1
Stolle, C.2
Bason, L.3
Colliton, R.P.4
Piccoli, D.A.5
Spinner, N.B.6
Krantz, I.D.7
-
160
-
-
77957890636
-
Jagged1 Functions Downstream of Twist1 in the Specification of the Coronal suture and the Formation of a Boundary between Osteogenic and Non-Osteogenic Cells
-
H.Y. Yen, M.C. Ting and R.E. Maxson (2010) Jagged1 Functions Downstream of Twist1 in the Specification of the Coronal suture and the Formation of a Boundary between Osteogenic and Non-Osteogenic Cells. Dev. Biol. 347(2), 258-270.
-
(2010)
Dev. Biol.
, vol.347
, Issue.2
, pp. 258-270
-
-
Yen, H.Y.1
Ting, M.C.2
Maxson, R.E.3
-
161
-
-
19944363541
-
Shprintzen–Goldberg Syndrome: Fourteen New Patients and a Clinical Analysis
-
P.N. Robinson, L.M. Neumann, S. Demuth, H. Enders, U. Jung, R. Konig, B. Mitulla, D. Muller, P. Muschke, L. Pfeiffer, et al. (2005) Shprintzen–Goldberg Syndrome: Fourteen New Patients and a Clinical Analysis. Am. J. Med. Genet. A 135(3), 251-262.
-
(2005)
Am. J. Med. Genet. A
, vol.135
, Issue.3
, pp. 251-262
-
-
Robinson, P.N.1
Neumann, L.M.2
Demuth, S.3
Enders, H.4
Jung, U.5
Konig, R.6
Mitulla, B.7
Muller, D.8
Muschke, P.9
Pfeiffer, L.10
-
163
-
-
33746641694
-
Opitz Trigonocephaly C Syndrome in a Boy with a De Novo Balanced Reciprocal Translocation t(3;18)(q13.13;q12.1)
-
Y. Chinen, T. Kaname, K. Yanagi, N. Saito, K. Naritomi and T. Ohta (2006) Opitz Trigonocephaly C Syndrome in a Boy with a De Novo Balanced Reciprocal Translocation t(3;18)(q13.13;q12.1). Am. J. Med. Genet. A 140(15), 1655-1657.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, Issue.15
, pp. 1655-1657
-
-
Chinen, Y.1
Kaname, T.2
Yanagi, K.3
Saito, N.4
Naritomi, K.5
Ohta, T.6
-
164
-
-
35348963513
-
Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome
-
T. Kaname, K. Yanagi, Y. Chinen, Y. Makita, N. Okamoto, H. Maehara, I. Owan, F. Kanaya, Y. Kubota, Y. Oike, et al. (2007) Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome. Am. J. Hum. Genet. 81(4), 835-841.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, Issue.4
, pp. 835-841
-
-
Kaname, T.1
Yanagi, K.2
Chinen, Y.3
Makita, Y.4
Okamoto, N.5
Maehara, H.6
Owan, I.7
Kanaya, F.8
Kubota, Y.9
Oike, Y.10
-
165
-
-
33645573122
-
A Japanese Boy with Apparent Bohring–Opitz or “C-Like” Syndrome
-
M. Osaki, Y. Makita, J. Miura, N. Abe, S. Noguchi and A. Miyamoto (2006) A Japanese Boy with Apparent Bohring–Opitz or “C-Like” Syndrome. Am. J. Med. Genet. A 140(8), 897-899.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, Issue.8
, pp. 897-899
-
-
Osaki, M.1
Makita, Y.2
Miura, J.3
Abe, N.4
Noguchi, S.5
Miyamoto, A.6
-
166
-
-
21044450819
-
Molecular Screening for Microdeletions at 9p.22–p24 and 11q23–q24 in a Large Cohort of Patients with Trigonocephaly
-
F.S. Jehee, D. Johnson, L.G. Alonso, D.P. Cavalcanti, E. de Sa Moreira, F.L. Alberto, F. Kok, C. Kim, S.A. Wall, E.W. Jabs, et al. (2005) Molecular Screening for Microdeletions at 9p.22–p24 and 11q23–q24 in a Large Cohort of Patients with Trigonocephaly. Clin. Genet. 67(6), 503-510.
-
(2005)
Clin. Genet.
, vol.67
, Issue.6
, pp. 503-510
-
-
Jehee, F.S.1
Johnson, D.2
Alonso, L.G.3
Cavalcanti, D.P.4
de Sa Moreira, E.5
Alberto, F.L.6
Kok, F.7
Kim, C.8
Wall, S.A.9
Jabs, E.W.10
-
167
-
-
80053437424
-
Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
-
L.E. Vissers, T.C. Cox, A.M. Maga, K.M. Short, F. Wiradjaja, I.M. Janssen, F. Jehee, D. Bertola, J. Liu, G. Yagnik, et al. (2011) Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice. Plos Genet. 7(9), E1002278.
-
(2011)
Plos Genet.
, vol.7
, Issue.9
, pp. E1002278
-
-
Vissers, L.E.1
Cox, T.C.2
Maga, A.M.3
Short, K.M.4
Wiradjaja, F.5
Janssen, I.M.6
Jehee, F.7
Bertola, D.8
Liu, J.9
Yagnik, G.10
-
168
-
-
0019507813
-
A Recognizable Phenotype in a Child with Partial Duplication 13q in a Family with t(10q;13q)
-
L. Hornstein and S. Soukup (1981) A Recognizable Phenotype in a Child with Partial Duplication 13q in a Family with t(10q;13q). Clin. Genet. 19(2), 81-86.
-
(1981)
Clin. Genet.
, vol.19
, Issue.2
, pp. 81-86
-
-
Hornstein, L.1
Soukup, S.2
-
169
-
-
33744795956
-
Trigonocephaly in a Boy with Paternally Inherited Deletion 22q11.2 Syndrome
-
T. Yamamoto, K. Sameshima, K. Sekido, N. Aida, N. Matsumoto, K. Naritomi and K. Kurosawa (2006) Trigonocephaly in a Boy with Paternally Inherited Deletion 22q11.2 Syndrome. Am. J. Med. Genet. A 140(12), 1302-1304.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, Issue.12
, pp. 1302-1304
-
-
Yamamoto, T.1
Sameshima, K.2
Sekido, K.3
Aida, N.4
Matsumoto, N.5
Naritomi, K.6
Kurosawa, K.7
-
170
-
-
20544454118
-
Characterization of a New Syndrome that Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS
-
R. Mendoza-Londono, E. Lammer, R. Watson, J. Harper, A. Hatamochi, S. Hatamochi-Hayashi, D. Napierala, P. Hermanns, S. Collins, B.B. Roa, et al. (2005) Characterization of a New Syndrome that Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS. Am. J. Hum. Genet. 77(1), 161-168.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, Issue.1
, pp. 161-168
-
-
Mendoza-Londono, R.1
Lammer, E.2
Watson, R.3
Harper, J.4
Hatamochi, A.5
Hatamochi-Hayashi, S.6
Napierala, D.7
Hermanns, P.8
Collins, S.9
Roa, B.B.10
-
171
-
-
35248824139
-
Genetic Analysis of Non-Syndromic Craniosynostosis
-
S.A. Boyadjiev (2007) Genetic Analysis of Non-Syndromic Craniosynostosis. Orthod. Craniofac. Res. 10(3), 129-137.
-
(2007)
Orthod. Craniofac. Res.
, vol.10
, Issue.3
, pp. 129-137
-
-
Boyadjiev, S.A.1
-
172
-
-
3242691642
-
Molecular Analysis of Patients with Synostotic Frontal Plagiocephaly (Unilateral Coronal Synostosis)
-
J.B. Mulliken, K.W. Gripp, C.A. Stolle, D. Steinberger and U. Muller (2004) Molecular Analysis of Patients with Synostotic Frontal Plagiocephaly (Unilateral Coronal Synostosis). Plast. Reconstr. Surg. 113(7), 1899-1909.
-
(2004)
Plast. Reconstr. Surg.
, vol.113
, Issue.7
, pp. 1899-1909
-
-
Mulliken, J.B.1
Gripp, K.W.2
Stolle, C.A.3
Steinberger, D.4
Muller, U.5
-
173
-
-
0034069610
-
Fibroblast Growth Factor Receptor 3 Mutation in Non-Syndromic Coronal Synostosis: Clinical Spectrum, Prevalence, and Surgical Outcome
-
D. Renier, V. El-Ghouzzi, J. Bonaventure, M. Le Merrer and E. Lajeunie (2000) Fibroblast Growth Factor Receptor 3 Mutation in Non-Syndromic Coronal Synostosis: Clinical Spectrum, Prevalence, and Surgical Outcome. J. Neurosurg. 92(4), 631-636.
-
(2000)
J. Neurosurg.
, vol.92
, Issue.4
, pp. 631-636
-
-
Renier, D.1
El-Ghouzzi, V.2
Bonaventure, J.3
Le Merrer, M.4
Lajeunie, E.5
-
174
-
-
0035657960
-
Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report
-
L.B. Cassileth, S.P. Bartlett, P.M. Glat, K.W. Gripp, M. Muenke, E.H. Zackai and L.A. Whitaker (2001) Clinical Characteristics of Patients with Unicoronal Synostosis and Mutations of Fibroblast Growth Factor Receptor 3: A Preliminary Report. Plast. Reconstr. Surg. 108(7), 1849-1854.
-
(2001)
Plast. Reconstr. Surg.
, vol.108
, Issue.7
, pp. 1849-1854
-
-
Cassileth, L.B.1
Bartlett, S.P.2
Glat, P.M.3
Gripp, K.W.4
Muenke, M.5
Zackai, E.H.6
Whitaker, L.A.7
-
175
-
-
0036292940
-
Postoperative Mental and Morphological Outcome for Non-Syndromic Brachycephaly
-
discussion 13
-
E. Arnaud, P. Meneses, E. Lajeunie, J.A. Thorne, D. Marchac and D. Renier (2002) Postoperative Mental and Morphological Outcome for Non-Syndromic Brachycephaly. Plast. Reconstr. Surg. 110(1), 6-12. discussion 13
-
(2002)
Plast. Reconstr. Surg.
, vol.110
, Issue.1
, pp. 6-12
-
-
Arnaud, E.1
Meneses, P.2
Lajeunie, E.3
Thorne, J.A.4
Marchac, D.5
Renier, D.6
-
176
-
-
18144381751
-
FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent “Nonsyndromic” coronal Craniosynostosis
-
discussion 353–344
-
G.P. Thomas, A.O. Wilkie, P.G. Richards and S.A. Wall (2005) FGFR3 P250R Mutation Increases the Risk of Reoperation in Apparent “Nonsyndromic” coronal Craniosynostosis. J. Craniofac. Surg. 16(3), 347-352. discussion 353–344
-
(2005)
J. Craniofac. Surg.
, vol.16
, Issue.3
, pp. 347-352
-
-
Thomas, G.P.1
Wilkie, A.O.2
Richards, P.G.3
Wall, S.A.4
-
177
-
-
0033870788
-
A Novel Mutation, Ala315Ser, in FGFR2: A Gene-Environment Interaction Leading to Craniosynostosis?
-
D. Johnson, S.A. Wall, S. Mann and A.O. Wilkie (2000) A Novel Mutation, Ala315Ser, in FGFR2: A Gene-Environment Interaction Leading to Craniosynostosis? Eur. J. Hum. Genet. 8(8), 571-577.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, Issue.8
, pp. 571-577
-
-
Johnson, D.1
Wall, S.A.2
Mann, S.3
Wilkie, A.O.4
-
178
-
-
29644443643
-
Saethre–Chotzen Syndrome Caused by TWIST 1 Gene Mutations: Functional Differentiation from Muenke Coronal Synostosis Syndrome
-
W. Kress, C. Schropp, G. Lieb, B. Petersen, M. Busse-Ratzka, J. Kunz, E. Reinhart, W.D. Schafer, J. Sold, F. Hoppe, et al. (2006) Saethre–Chotzen Syndrome Caused by TWIST 1 Gene Mutations: Functional Differentiation from Muenke Coronal Synostosis Syndrome. Eur. J. Hum. Genet. 14(1), 39-48.
-
(2006)
Eur. J. Hum. Genet.
, vol.14
, Issue.1
, pp. 39-48
-
-
Kress, W.1
Schropp, C.2
Lieb, G.3
Petersen, B.4
Busse-Ratzka, M.5
Kunz, J.6
Reinhart, E.7
Schafer, W.D.8
Sold, J.9
Hoppe, F.10
-
179
-
-
34247256382
-
Isolated Sagittal and Coronal Craniosynostosis Associated with TWIST Box Mutations
-
M.L. Seto, A.V. Hing, J. Chang, M. Hu, K.A. Kapp-Simon, P.K. Patel, B.K. Burton, A.A. Kane, M.D. Smyth, R. Hopper, et al. (2007) Isolated Sagittal and Coronal Craniosynostosis Associated with TWIST Box Mutations. Am. J. Med. Genet. A 143(7), 678-686.
-
(2007)
Am. J. Med. Genet. A
, vol.143
, Issue.7
, pp. 678-686
-
-
Seto, M.L.1
Hing, A.V.2
Chang, J.3
Hu, M.4
Kapp-Simon, K.A.5
Patel, P.K.6
Burton, B.K.7
Kane, A.A.8
Smyth, M.D.9
Hopper, R.10
-
180
-
-
81955164146
-
Mild Isolated Craniosynostosis due to a Novel FGFR3 Mutation, p.Ala334Thr
-
E. Barroso, V. Perez-Carrizosa, I. Garcia-Recuero, M.J. Glucksman, A.O. Wilkie, S. Garcia-Minaur and K.E. Heath (2011) Mild Isolated Craniosynostosis due to a Novel FGFR3 Mutation, p.Ala334Thr. Am. J. Med. Genet. A 155A(12), 3050-3053.
-
(2011)
Am. J. Med. Genet. A
, vol.155A
, Issue.12
, pp. 3050-3053
-
-
Barroso, E.1
Perez-Carrizosa, V.2
Garcia-Recuero, I.3
Glucksman, M.J.4
Wilkie, A.O.5
Garcia-Minaur, S.6
Heath, K.E.7
-
181
-
-
0034485778
-
An Unusual FGFR1 Mutation (Fibroblast Growth Factor Receptor 1 Mutation) in a Girl with Non-Syndromic Trigonocephaly
-
W. Kress, B. Petersen, H. Collmann and T. Grimm (2000) An Unusual FGFR1 Mutation (Fibroblast Growth Factor Receptor 1 Mutation) in a Girl with Non-Syndromic Trigonocephaly. Cytogenet. Cell Genet. 91(1–4), 138-140.
-
(2000)
Cytogenet. Cell Genet.
, vol.91
, Issue.1-4
, pp. 138-140
-
-
Kress, W.1
Petersen, B.2
Collmann, H.3
Grimm, T.4
-
182
-
-
84870480470
-
Molecular Analysis of 74 Patients with Craniosynostosis
-
I. Weber, M. Ninkovic, A. Janicke, B. Utermann and M. Witsch-Baumgartner (2001) Molecular Analysis of 74 Patients with Craniosynostosis. Eur. J. Hum. Genet. 9(179), 0409.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, Issue.179
, pp. 0409
-
-
Weber, I.1
Ninkovic, M.2
Janicke, A.3
Utermann, B.4
Witsch-Baumgartner, M.5
-
183
-
-
84870506995
-
A Genome-Wide Association Study Identifies Susceptibility Loci for Non-Syndromic Sagittal Craniosynostosis on Chromosomes 20 and 7
-
C.M. Justice, G. Yagnik, Y. Kim, I. Peter, E.W. Jabs, M. Erazo, X. Ye, E. Ainehsazan, L. Shi, M.L. Cunningham, et al. (2012) A Genome-Wide Association Study Identifies Susceptibility Loci for Non-Syndromic Sagittal Craniosynostosis on Chromosomes 20 and 7. Nat. Genet. 44(12), 1360-1364.
-
(2012)
Nat. Genet.
, vol.44
, Issue.12
, pp. 1360-1364
-
-
Justice, C.M.1
Yagnik, G.2
Kim, Y.3
Peter, I.4
Jabs, E.W.5
Erazo, M.6
Ye, X.7
Ainehsazan, E.8
Shi, L.9
Cunningham, M.L.10
-
184
-
-
84867197369
-
Parameters of Care for Craniosynostosis
-
J.G. McCarthy, S.M. Warren, J. Bernstein, W. Burnett, M.L. Cunningham, J.C. Edmond, A.A. Figueroa, K.A. Kapp-Simon, B.I. Labow, S.J. Peterson-Falzone, et al. (2012) Parameters of Care for Craniosynostosis. Cleft. Palate. Craniofac. J. 49(Suppl.), 1S-24S.
-
(2012)
Cleft. Palate. Craniofac. J.
, vol.49
, pp. 1S-24S
-
-
McCarthy, J.G.1
Warren, S.M.2
Bernstein, J.3
Burnett, W.4
Cunningham, M.L.5
Edmond, J.C.6
Figueroa, A.A.7
Kapp-Simon, K.A.8
Labow, B.I.9
Peterson-Falzone, S.J.10
-
185
-
-
0029876886
-
An Increase in Infant Cranial Deformity with Supine Sleeping Position
-
L.C. Argenta, L.R. David, J.A. Wilson and W.O. Bell (1996) An Increase in Infant Cranial Deformity with Supine Sleeping Position. J. Craniofac. Surg. 7(1), 5-11.
-
(1996)
J. Craniofac. Surg.
, vol.7
, Issue.1
, pp. 5-11
-
-
Argenta, L.C.1
David, L.R.2
Wilson, J.A.3
Bell, W.O.4
-
186
-
-
0029998298
-
Observations on a Recent Increase in Plagiocephaly without Synostosis
-
A.A. Kane, L.E. Mitchell, K.P. Craven and J.L. Marsh (1996) Observations on a Recent Increase in Plagiocephaly without Synostosis. Pediatrics 97(6 Pt 1), 877-885.
-
(1996)
Pediatrics
, vol.97
, Issue.6
, pp. 877-885
-
-
Kane, A.A.1
Mitchell, L.E.2
Craven, K.P.3
Marsh, J.L.4
-
187
-
-
0029940878
-
The “Back to Sleep Campaign” and Deformational Plagiocephaly: Is There Cause for Concern?
-
A.E. Turk, J.G. McCarthy, C.H. Thorne and J.H. Wisoff (1996) The “Back to Sleep Campaign” and Deformational Plagiocephaly: Is There Cause for Concern? J. Craniofac. Surg. 7(1), 12-18.
-
(1996)
J. Craniofac. Surg.
, vol.7
, Issue.1
, pp. 12-18
-
-
Turk, A.E.1
McCarthy, J.G.2
Thorne, C.H.3
Wisoff, J.H.4
-
188
-
-
34547642377
-
Clinical Dividends from the Molecular Genetic Diagnosis of Craniosynostosis
-
A.O. Wilkie, E.G. Bochukova, R.M. Hansen, I.B. Taylor, S.V. Rannan-Eliya, J.C. Byren, S.A. Wall, L. Ramos, M. Venancio, J.A. Hurst, et al. (2007) Clinical Dividends from the Molecular Genetic Diagnosis of Craniosynostosis. Am. J. Med. Genet. A 143A(16), 1941-1949.
-
(2007)
Am. J. Med. Genet. A
, vol.143A
, Issue.16
, pp. 1941-1949
-
-
Wilkie, A.O.1
Bochukova, E.G.2
Hansen, R.M.3
Taylor, I.B.4
Rannan-Eliya, S.V.5
Byren, J.C.6
Wall, S.A.7
Ramos, L.8
Venancio, M.9
Hurst, J.A.10
|