-
1
-
-
78650647538
-
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
-
Abdel-Salam GM, Flores-Sarnat L, El-Ruby MO, Parboosingh J, Bridge P, Eid MM, El-Badry TH, Effat L, Curatolo P, Temtamy SA. 2011. Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. Am J Med Genet Part A 155A: 207-214.
-
(2011)
Am J Med Genet Part A
, vol.155 A
, pp. 207-214
-
-
Abdel-Salam, G.M.1
Flores-Sarnat, L.2
El-Ruby, M.O.3
Parboosingh, J.4
Bridge, P.5
Eid, M.M.6
El-Badry, T.H.7
Effat, L.8
Curatolo, P.9
Temtamy, S.A.10
-
2
-
-
58849084644
-
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal
-
Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG. 2009. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. Clin Genet 75: 150-156.
-
(2009)
Clin Genet
, vol.75
, pp. 150-156
-
-
Almeida, M.R.1
Campos-Xavier, A.B.2
Medeira, A.3
Cordeiro, I.4
Sousa, A.B.5
Lima, M.6
Soares, G.7
Rocha, M.8
Saraiva, J.9
Ramos, L.10
Sousa, S.11
Marcelino, J.P.12
Correia, A.13
Santos, H.G.14
-
3
-
-
0028291499
-
Jackson-Weiss syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter
-
Ades LC, Mulley JC, Senga IP, Morris LL, David DJ, Haan EA. 1994. Jackson-Weiss syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter. Am J Med Genet 51: 121-130.
-
(1994)
Am J Med Genet
, vol.51
, 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
-
4
-
-
0031051309
-
Hand anomalies in Crouzon syndrome
-
Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. 1997. Hand anomalies in Crouzon syndrome. Skeletal Radiol 26: 113-115.
-
(1997)
Skeletal Radiol
, vol.26
, pp. 113-115
-
-
Anderson, P.J.1
Hall, C.M.2
Evans, R.D.3
Jones, B.M.4
Hayward, R.D.5
-
5
-
-
0030806251
-
The feet in Crouzon syndrome
-
Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. 1997a. The feet in Crouzon syndrome. J Craniofac Genet Dev Biol 17: 43-47.
-
(1997)
J Craniofac Genet Dev Biol
, vol.17
, pp. 43-47
-
-
Anderson, P.J.1
Hall, C.M.2
Evans, R.D.3
Hayward, R.D.4
Jones, B.M.5
-
6
-
-
0031975801
-
The feet in Pfeiffer syndrome
-
Anderson PJ, Hall CM, Evans RD, Jones BM, Hayward RD. 1998a. The feet in Pfeiffer syndrome. J Craniofac Surg 9: 98-102.
-
(1998)
J Craniofac Surg
, vol.9
, pp. 98-102
-
-
Anderson, P.J.1
Hall, C.M.2
Evans, R.D.3
Jones, B.M.4
Hayward, R.D.5
-
7
-
-
0033046196
-
The feet in Apert's syndrome
-
Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM. 1999. The feet in Apert's syndrome. J Pediatr Orthop 19: 504-507.
-
(1999)
J Pediatr Orthop
, vol.19
, pp. 504-507
-
-
Anderson, P.J.1
Hall, C.M.2
Evans, R.D.3
Hayward, R.D.4
Jones, B.M.5
-
9
-
-
0008503055
-
Synphalangism and related fusions of tarsal bones
-
Austin FH. 1951. Synphalangism and related fusions of tarsal bones. Radiology 56: 882.
-
(1951)
Radiology
, vol.56
, pp. 882
-
-
Austin, F.H.1
-
10
-
-
59849109151
-
Muenke syndrome with osteochondroma
-
Barbosa M, Almeida Md R, Reis-Lima M, Pinto-Basto J, dos Santos HG. 2009. Muenke syndrome with osteochondroma. Am J Med Genet Part A 149A: 260-261.
-
(2009)
Am J Med Genet Part A
, vol.149 A
, pp. 260-261
-
-
Barbosa, M.1
Almeida Md, R.2
Reis-Lima, M.3
Pinto-Basto, J.4
dos Santos, H.G.5
-
11
-
-
79952556926
-
Beare-Stevenson syndrome: Two Dutch patients with cerebral abnormalities
-
Barge-Schaapveld DQ, Brooks AS, Lequin MH, van Spaendonk R, Vermeulen RJ, Cobben JM. 2011. Beare-Stevenson syndrome: Two Dutch patients with cerebral abnormalities. Pediatr Neurol 44: 303-307.
-
(2011)
Pediatr Neurol
, vol.44
, pp. 303-307
-
-
Barge-Schaapveld, D.Q.1
Brooks, A.S.2
Lequin, M.H.3
van Spaendonk, R.4
Vermeulen, R.J.5
Cobben, J.M.6
-
12
-
-
0035132940
-
Tarsal coalition
-
Bohne WH. 2001. Tarsal coalition. Curr Opin Pediatr 13: 29-35.
-
(2001)
Curr Opin Pediatr
, vol.13
, pp. 29-35
-
-
Bohne, W.H.1
-
13
-
-
42949105086
-
A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003
-
Boulet SL, Rasmussen SA, Honein MA. 2008. A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet Part A 146A: 984-991.
-
(2008)
Am J Med Genet Part A
, vol.146 A
, pp. 984-991
-
-
Boulet, S.L.1
Rasmussen, S.A.2
Honein, M.A.3
-
14
-
-
0027522002
-
Skeletal abnormalities in the Apert syndrome
-
Cohen MM, Kreiborg S. 1993b. Skeletal abnormalities in the Apert syndrome. Am J Med Genet 47: 624-632.
-
(1993)
Am J Med Genet
, vol.47
, pp. 624-632
-
-
Cohen, M.M.1
Kreiborg, S.2
-
16
-
-
0033531968
-
Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology
-
Cohen MM Jr. 1999. Let's call it "Crouzonodermoskeletal syndrome" so we won't be prisoners of our own conventional terminology. Am J Med Genet 84: 74.
-
(1999)
Am J Med Genet
, vol.84
, pp. 74
-
-
Cohen Jr., M.M.1
-
17
-
-
0017717146
-
Calcaneocuboid coalition in Crouzon's syndrome craniofacial dysostosis): Report of a case and review of the literature
-
Craig CL, Goldberg MJ. 1977. Calcaneocuboid coalition in Crouzon's syndrome craniofacial dysostosis): Report of a case and review of the literature. J Bone Joint Surg Br 59: 826-827.
-
(1977)
J Bone Joint Surg Br
, vol.59
, pp. 826-827
-
-
Craig, C.L.1
Goldberg, M.J.2
-
18
-
-
79954424150
-
Additional phenotypic features of Muenke syndrome in 2 Dutch families
-
de Jong T, Mathijssen IM, Hoogeboom AJ. 2011. Additional phenotypic features of Muenke syndrome in 2 Dutch families. J Craniofac Surg 22: 571-575.
-
(2011)
J Craniofac Surg
, vol.22
, pp. 571-575
-
-
de Jong, T.1
Mathijssen, I.M.2
Hoogeboom, A.J.3
-
19
-
-
70449239698
-
Cubonavicular synostosis: A rare tarsal anomaly
-
DelSel JM, Grand NE. 1959. Cubonavicular synostosis: A rare tarsal anomaly. J Bone Joint Surg 41B: 149.
-
(1959)
J Bone Joint Surg
, vol.41 B
, pp. 149
-
-
DelSel, J.M.1
Grand, N.E.2
-
20
-
-
79953809462
-
Crouzon syndrome with acanthosis nigricans: A case-based update
-
Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M, Hadj-Rabia S, Renier D. 2011. Crouzon syndrome with acanthosis nigricans: A case-based update. Childs Nerv Syst 27: 349-354.
-
(2011)
Childs Nerv Syst
, vol.27
, pp. 349-354
-
-
Di Rocco, F.1
Collet, C.2
Legeai-Mallet, L.3
Arnaud, E.4
Le Merrer, M.5
Hadj-Rabia, S.6
Renier, D.7
-
21
-
-
69549124027
-
A young patient with polyarthralgia and hearing loss: A case report of Muenke syndrome
-
Didolkar MM, Vinson EN, Gaca AM. 2009. A young patient with polyarthralgia and hearing loss: A case report of Muenke syndrome. Skeletal Radiol 38: 1011-1014.
-
(2009)
Skeletal Radiol
, vol.38
, pp. 1011-1014
-
-
Didolkar, M.M.1
Vinson, E.N.2
Gaca, A.M.3
-
22
-
-
37249065686
-
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature
-
Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. 2007. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet Part A 143A: 3204-3215.
-
(2007)
Am J Med Genet Part A
, vol.143 A
, pp. 3204-3215
-
-
Doherty, E.S.1
Lacbawan, F.2
Hadley, D.W.3
Brewer, C.4
Zalewski, C.5
Kim, H.J.6
Solomon, B.7
Rosenbaum, K.8
Domingo, D.L.9
Hart, T.C.10
Brooks, B.P.11
Immken, L.12
Lowry, R.B.13
Kimonis, V.14
Shanske, A.L.15
Jehee, F.S.16
Bueno, M.R.17
Knightly, C.18
McDonald-McGinn, D.19
Zackai, E.H.20
Muenke, M.21
more..
-
23
-
-
0032557724
-
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
-
Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. 1998. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet 77: 322-329.
-
(1998)
Am J Med Genet
, vol.77
, pp. 322-329
-
-
Graham Jr., J.M.1
Braddock, S.R.2
Mortier, G.R.3
Lachman, R.4
Van Dop, C.5
Jabs, E.W.6
-
24
-
-
0031904629
-
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III
-
Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, Katowitz JA, Muenke M, Zackai EH. 1998. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. Am J Med Genet 78: 356-360.
-
(1998)
Am J Med Genet
, vol.78
, pp. 356-360
-
-
Gripp, K.W.1
Stolle, C.A.2
McDonald-McGinn, D.M.3
Markowitz, R.I.4
Bartlett, S.P.5
Katowitz, J.A.6
Muenke, M.7
Zackai, E.H.8
-
25
-
-
0042322712
-
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia
-
Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, Mostardini R, Morgese G, Balestri P. 2003. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. Am J Med Genet Part A 120A: 88-91.
-
(2003)
Am J Med Genet Part A
, vol.120 A
, pp. 88-91
-
-
Grosso, S.1
Farnetani, M.A.2
Berardi, R.3
Bartalini, G.4
Carpentieri, M.5
Galluzzi, P.6
Mostardini, R.7
Morgese, G.8
Balestri, P.9
-
26
-
-
0030438565
-
Functions of fibroblast growth factors in vertebrate development
-
Goldfarb M. 1996. Functions of fibroblast growth factors in vertebrate development. Cytokine Growth Factor Rev 7: 311-325.
-
(1996)
Cytokine Growth Factor Rev
, vol.7
, pp. 311-325
-
-
Goldfarb, M.1
-
27
-
-
33748572907
-
FGFR1 Pfeiffer syndrome without craniosynostosis: An additional case report
-
Hackett A, Rowe L. 2006. FGFR1 Pfeiffer syndrome without craniosynostosis: An additional case report. Clin Dysmorphol 15: 207-210.
-
(2006)
Clin Dysmorphol
, vol.15
, pp. 207-210
-
-
Hackett, A.1
Rowe, L.2
-
28
-
-
59649102280
-
Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse model
-
Hajihosseini MK, Duarte R, Pegrum J, Donjacour A, Lana-Elola E, Rice DP, Sharpe J, Dickson C. 2009. Evidence that Fgf10 contributes to the skeletal and visceral defects of an apert syndrome mouse model. Dev Dyn 238: 376-385.
-
(2009)
Dev Dyn
, vol.238
, pp. 376-385
-
-
Hajihosseini, M.K.1
Duarte, R.2
Pegrum, J.3
Donjacour, A.4
Lana-Elola, E.5
Rice, D.P.6
Sharpe, J.7
Dickson, C.8
-
29
-
-
0035874031
-
Century of Jackson-Weiss syndrome: Further definition of clinical and radiographic findings in "lost" descendants of the original kindred
-
Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M. 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: 315-324.
-
(2001)
Am J Med Genet
, vol.100
, 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
-
30
-
-
0035350270
-
Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene
-
Hughes J, Nevin NC, Morrison PJ. 2001. Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene. Ulster Med J 70: 47-50.
-
(2001)
Ulster Med J
, vol.70
, pp. 47-50
-
-
Hughes, J.1
Nevin, N.C.2
Morrison, P.J.3
-
31
-
-
5444250989
-
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities
-
Ibrahimi OA, Zhang F, Eliseenkova AV, Linhardt RJ, Mohammadi M. 2004. Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. Hum Mol Genet 13: 2313-2324.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2313-2324
-
-
Ibrahimi, O.A.1
Zhang, F.2
Eliseenkova, A.V.3
Linhardt, R.J.4
Mohammadi, M.5
-
32
-
-
0028113931
-
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
-
Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. 1994. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 8: 275-279.
-
(1994)
Nat Genet
, vol.8
, 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
-
33
-
-
84886621421
-
Craniosynostosis midface hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred
-
Jackson CE, Weiss L, Reynolds WA, Forman TF, Peterson JA. 1976. Craniosynostosis midface hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred. J Pediatr 88: 963-968.
-
(1976)
J Pediatr
, vol.88
, pp. 963-968
-
-
Jackson, C.E.1
Weiss, L.2
Reynolds, W.A.3
Forman, T.F.4
Peterson, J.A.5
-
34
-
-
71049123576
-
Tarsal coalitions: Etiology, diagnosis, imaging, and stigmata
-
Kernbach KJ. 2010. Tarsal coalitions: Etiology, diagnosis, imaging, and stigmata. Clin Podiatr Med Surg 27: 105-117.
-
(2010)
Clin Podiatr Med Surg
, vol.27
, pp. 105-117
-
-
Kernbach, K.J.1
-
35
-
-
0032961402
-
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
-
Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D. 1999. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. J Med Genet 36: 9-13.
-
(1999)
J Med Genet
, vol.36
, pp. 9-13
-
-
Lajeunie, E.1
El Ghouzzi, V.2
Le Merrer, M.3
Munnich, A.4
Bonaventure, J.5
Renier, D.6
-
36
-
-
0016204263
-
The inheritance of tarsal coalition and its relationship to spastic flat foot
-
Leonard MA. 1974. The inheritance of tarsal coalition and its relationship to spastic flat foot. J Bone Joint Surg Br 56: 520-526.
-
(1974)
J Bone Joint Surg Br
, vol.56
, pp. 520-526
-
-
Leonard, M.A.1
-
37
-
-
0028111740
-
Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q-q26
-
Li X, Lewanda AF, Eluma F, Jerald H, Choi H, Alozie I, Proukakis C, Talbot CC, Vander-Kolk C, Bird LM, Jones MC, Cunningham M, Clarren SK, Pyeritz RE, Weissenbach J, Jackson CE, Jabs EW. 1994. Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q-q26. Genomics 22: 418-424.
-
(1994)
Genomics
, vol.22
, pp. 418-424
-
-
Li, X.1
Lewanda, A.F.2
Eluma, F.3
Jerald, H.4
Choi, H.5
Alozie, I.6
Proukakis, C.7
Talbot, C.C.8
Vander-Kolk, C.9
Bird, L.M.10
Jones, M.C.11
Cunningham, M.12
Clarren, S.K.13
Pyeritz, R.E.14
Weissenbach, J.15
Jackson, C.E.16
Jabs, E.W.17
-
39
-
-
0028046606
-
A common mutation in the fibroblast growth factor receptor 1 gene In Pfeiffer syndrome
-
Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM. 1994. A common mutation in the fibroblast growth factor receptor 1 gene In Pfeiffer syndrome. Nat Genet 8: 269-274.
-
(1994)
Nat Genet
, vol.8
, pp. 269-274
-
-
Muenke, M.1
Schell, U.2
Hehr, A.3
Robin, N.H.4
Losken, H.W.5
Schinzel, A.6
Pulleyn, L.J.7
Rutland, P.8
Reardon, W.9
Malcolm, S.10
Winter, R.M.11
-
40
-
-
16944367030
-
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
-
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, Zackai EH. 1997. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60: 555-564.
-
(1997)
Am J Hum Genet
, vol.60
, 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
Losken, H.W.11
Mulliken, J.B.12
Guttmacher, A.E.13
Wilroy, R.S.14
Clarke, L.A.15
Hollway, G.16
Ades, L.C.17
Haan, E.A.18
Mulley, J.C.19
Cohen, M.M.20
Bellus, G.A.21
Francomano, C.A.22
Moloney, D.M.23
Wall, S.A.24
Wilkie, A.O.25
Zackai, E.H.26
more..
-
41
-
-
40949094313
-
MRI of tarsal coalition: Frequency, distribution, and innovative signs
-
Nalaboff KM, Schweitzer ME. 2008. MRI of tarsal coalition: Frequency, distribution, and innovative signs. Bull NYU Hosp Jt Dis 66: 14-21.
-
(2008)
Bull NYU Hosp Jt Dis
, vol.66
, pp. 14-21
-
-
Nalaboff, K.M.1
Schweitzer, M.E.2
-
42
-
-
0017070559
-
Pfeiffer syndrome: Report of a family and review of the literature
-
Naveh Y, Friedman A. 1976. Pfeiffer syndrome: Report of a family and review of the literature. J Med Genet 13: 277-280.
-
(1976)
J Med Genet
, vol.13
, pp. 277-280
-
-
Naveh, Y.1
Friedman, A.2
-
43
-
-
0001112486
-
A survey of carpal and tarsal anomalies
-
O'Rahilly R. 1953. A survey of carpal and tarsal anomalies. J Bone Joint Surg Am 35: 626-642.
-
(1953)
J Bone Joint Surg Am
, vol.35
, pp. 626-642
-
-
O'Rahilly, R.1
-
44
-
-
0029004086
-
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
-
Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. 1995. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4: 1229-1233.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1229-1233
-
-
Park, W.J.1
Meyers, G.A.2
Li, X.3
Theda, C.4
Day, D.5
Orlow, S.J.6
Jones, M.C.7
Jabs, E.W.8
-
45
-
-
0001115377
-
Familial tarsal and carpal synostosis with radial-head subluxation (Nievergelt's syndrome)
-
Pearlman HS, Edkin RE, Warren RF. 1964. Familial tarsal and carpal synostosis with radial-head subluxation (Nievergelt's syndrome). J Bone Joint Surg Am 46: 585-592.
-
(1964)
J Bone Joint Surg Am
, vol.46
, pp. 585-592
-
-
Pearlman, H.S.1
Edkin, R.E.2
Warren, R.F.3
-
47
-
-
0034069610
-
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome
-
Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E. 2000. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. J Neurosurg 92: 631-636.
-
(2000)
J Neurosurg
, vol.92
, pp. 631-636
-
-
Renier, D.1
El-Ghouzzi, V.2
Bonaventure, J.3
Le Merrer, M.4
Lajeunie, E.5
-
48
-
-
0029418312
-
The molecular pathology of syndromic craniosynostosis
-
Reardon W, Winter RM. 1995. The molecular pathology of syndromic craniosynostosis. Mol Med Today 1: 432-437.
-
(1995)
Mol Med Today
, vol.1
, pp. 432-437
-
-
Reardon, W.1
Winter, R.M.2
-
49
-
-
0033052743
-
Molecular genetic advances in understanding craniosynostosis
-
Robin NH. 1999. Molecular genetic advances in understanding craniosynostosis. Plast Reconstr Surg 103: 1060-1070.
-
(1999)
Plast Reconstr Surg
, vol.103
, pp. 1060-1070
-
-
Robin, N.H.1
-
50
-
-
0035399970
-
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3
-
Roscioli T, Flanagan S, Mortimore RJ, Kumar P, Weedon D, Masel J, Lewandowski R, Hyland V, Glass IA. 2001. Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. Am J Med Genet 101: 187-194.
-
(2001)
Am J Med Genet
, vol.101
, pp. 187-194
-
-
Roscioli, T.1
Flanagan, S.2
Mortimore, R.J.3
Kumar, P.4
Weedon, D.5
Masel, J.6
Lewandowski, R.7
Hyland, V.8
Glass, I.A.9
-
51
-
-
0142043966
-
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation
-
Rossi M, Jones RL, Norbury G, Bloch-Zupan A, Winter RM. 2003. The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. Clin Dysmorphol 12: 269-274.
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 269-274
-
-
Rossi, M.1
Jones, R.L.2
Norbury, G.3
Bloch-Zupan, A.4
Winter, R.M.5
-
52
-
-
0029109137
-
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
-
Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM. 1995. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 9: 173-176.
-
(1995)
Nat Genet
, vol.9
, pp. 173-176
-
-
Rutland, P.1
Pulleyn, L.J.2
Reardon, W.3
Baraitser, M.4
Hayward, R.5
Jones, B.6
Malcolm, S.7
Winter, R.M.8
Oldridge, M.9
Slaney, S.F.10
Poole, M.D.11
Wilkie, A.O.M.12
-
54
-
-
0013911559
-
Progressive synostosis in Apert's syndrome (acrocephalosyndactyly), with a description of the roentgenographic changes in the feet
-
Schauerte EW, St Aubin PM. 1966. Progressive synostosis in Apert's syndrome (acrocephalosyndactyly), with a description of the roentgenographic changes in the feet. Am J Roentgenol 97: 67-73.
-
(1966)
Am J Roentgenol
, vol.97
, pp. 67-73
-
-
Schauerte, E.W.1
St Aubin, P.M.2
-
55
-
-
83555164020
-
Talocalcaneal coalition in a 15 year-old female basketball player
-
Schenkel D, Degraauw J, Degraauw C. 2010. Talocalcaneal coalition in a 15 year-old female basketball player. J Can Chiropr Assoc 54: 222-228.
-
(2010)
J Can Chiropr Assoc
, vol.54
, pp. 222-228
-
-
Schenkel, D.1
Degraauw, J.2
Degraauw, C.3
-
56
-
-
0035153450
-
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3
-
Schweitzer DN, Graham JM, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. 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: 75-91.
-
(2001)
Am J Med Genet
, vol.98
, 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
-
57
-
-
0037229876
-
A dissection and computer tomograph study of tarsal coalitions in 100 cadaver feet
-
Solomon LB, Rühli FJ, Taylor J, Ferris L, Pope R, Henneberg M. 2003. A dissection and computer tomograph study of tarsal coalitions in 100 cadaver feet. J Orthop Res 21: 352-358.
-
(2003)
J Orthop Res
, vol.21
, pp. 352-358
-
-
Solomon, L.B.1
Rühli, F.J.2
Taylor, J.3
Ferris, L.4
Pope, R.5
Henneberg, M.6
-
59
-
-
0001560040
-
The child's foot
-
Morissey RT, Weinstein SL, editors. Philadelphia: Lippincott - Raven.
-
Sullivan JA. 1996. The child's foot. In: Morissey RT, Weinstein SL, editors. Lovell and winters pediatric orthopedics, 4e. Philadelphia: Lippincott - Raven. pp 1077-1135.
-
(1996)
Lovell and winters pediatric orthopedics, 4e
, pp. 1077-1135
-
-
Sullivan, J.A.1
-
60
-
-
0026330019
-
Symptomatic talocalcaneal coalition. Its clinical significance and treatment
-
Takakura Y, Sugimoto K, Tanaka Y, Tamai S. 1991. Symptomatic talocalcaneal coalition. Its clinical significance and treatment. Clin Orthop Relat Res 269: 249-256.
-
(1991)
Clin Orthop Relat Res
, vol.269
, pp. 249-256
-
-
Takakura, Y.1
Sugimoto, K.2
Tanaka, Y.3
Tamai, S.4
-
61
-
-
0038182228
-
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation
-
Trusen A, Beissert M, Collmann H, Darge K. 2003. The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. Pediatr Radiol 33: 168-172.
-
(2003)
Pediatr Radiol
, vol.33
, pp. 168-172
-
-
Trusen, A.1
Beissert, M.2
Collmann, H.3
Darge, K.4
-
62
-
-
0028798546
-
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
-
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W. 1995. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9: 165-172.
-
(1995)
Nat Genet
, vol.9
, 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
Malcolm, S.11
Winter, R.M.12
Reardon, W.13
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