-
2
-
-
34548844222
-
Familial acanthosis nigricans due to K650T FGFR3 mutation
-
DOI 10.1001/archderm.143.9.1153
-
Berk DR, Spector EB, Bayliss SJ (2007) Familial acanthosis nigricans due to K650T FGFR3 mutation. Arch Dermatol 143:1153-1156 (Pubitemid 47443367)
-
(2007)
Archives of Dermatology
, vol.143
, Issue.9
, pp. 1153-1156
-
-
Berk, D.R.1
Spector, E.B.2
Bayliss, S.J.3
-
3
-
-
0024542824
-
Crouzon's syndrome associated with acanthosis nigricans: Ramifications for the craniofacial surgeon
-
DOI 10.1097/00000637-198904000-00005
-
Breitbart AS, Eaton C, McCarthy JG (1989) Crouzon's syndrome associated with acanthosis nigricans: ramifications for the craniofacial surgeon. Ann Plast Surg 22(4):310-315 (Pubitemid 19121020)
-
(1989)
Annals of Plastic Surgery
, vol.22
, Issue.4
, pp. 310-315
-
-
Breitbart, A.S.1
Eaton, C.2
McCarthy, J.G.3
-
4
-
-
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(1):74
-
(1999)
Am J Med Genet
, vol.84
, Issue.1
, pp. 74
-
-
Cohen Jr., M.M.1
-
5
-
-
68249087222
-
Cloverleaf skulls: Etiologic heterogeneity and pathogenetic variability
-
Cohen MM Jr (2009) Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. J Craniofac Surg 20(Suppl 1):652-656
-
(2009)
J Craniofac Surg
, vol.20
, Issue.SUPPL. 1
, pp. 652-656
-
-
Cohen Jr., M.M.1
-
6
-
-
0006424989
-
The necessity of distinguishing four types of acanthosis nigricans
-
Jadassohn W, Schirren CG (eds) Springer, Berlin
-
Curth HO (1968) The necessity of distinguishing four types of acanthosis nigricans. In: Jadassohn W, Schirren CG (eds) Congressus internationalis dermatologiae Munich vol1. Springer, Berlin, pp 557-558
-
(1968)
Congressus Internationalis Dermatologiae Munich
, vol.1
, pp. 557-558
-
-
Curth, H.O.1
-
7
-
-
4244199048
-
FGFR3 mutation in Crouzon syndrome with acanthosis nigricans and abnormal MCPP analysis
-
Everett ET, Hartsfield KG Jr, Murdoch-Kinch CA (1996) FGFR3 mutation in Crouzon syndrome with acanthosis nigricans and abnormal MCPP analysis. Am J Hum Genet 59:257
-
(1996)
Am J Hum Genet
, vol.59
, pp. 257
-
-
Everett, E.T.1
Hartsfield Jr., K.G.2
Murdoch-Kinch, C.A.3
-
8
-
-
33646409290
-
Surgical treatment for eyelid deformity in crouzon syndrome associated with acanthosis nigricans: Case report [2]
-
Friedhofer H, Ocharan AM, Sturtz GP, Fonseca AS, Coltro PS, Ferreira MC (2006) Surgical treatment for eyelid deformity in Crouzon syndrome associated with acanthosis nigricans: case report. Clinics (Sao Paulo) 61(2):171-174 (Pubitemid 43684105)
-
(2006)
Clinics
, vol.61
, Issue.2
, pp. 171-174
-
-
Friedhofer, H.1
Ocharan, A.M.W.2
Sturtz, G.P.3
Fonseca, A.S.F.4
Coltro, P.S.5
Ferreira, M.C.6
-
9
-
-
0030040147
-
Crouzon disease with acanthosis nigricans and melanocytic nevi
-
Gines E, Rodriguez-Pichardo A, Jorquera E, Moreno JC, Camacho F (1996) Crouzon disease with acanthosis nigricans and melanocytic nevi. Pediatr Dermatol 13:18-22
-
(1996)
Pediatr Dermatol
, vol.13
, pp. 18-22
-
-
Gines, E.1
Rodriguez-Pichardo, A.2
Jorquera, E.3
Moreno, J.C.4
Camacho, F.5
-
10
-
-
77955293912
-
Germline and somatic mosaicism for FGFR2 mutation in a mother of a child with Crouzon syndrome: Implications for genetic testing in 'paternal age-effect' syndromes
-
Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, Wilkie AOM (2010) Germline and somatic mosaicism for FGFR2 mutation in a mother of a child with Crouzon syndrome: implications for genetic testing in 'paternal age-effect' syndromes. Am J Med Genet A 152A:2067-2073
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2067-2073
-
-
Goriely, A.1
Lord, H.2
Lim, J.3
Johnson, D.4
Lester, T.5
Firth, H.V.6
Wilkie, A.O.M.7
-
11
-
-
77949884816
-
A rare association of acanthosis nigricans with Crouzon syndrome
-
Gupta AK, Koley S, Choudhary S, Bhake A, Saoji V, Salodkar A (2010) A rare association of acanthosis nigricans with Crouzon syndrome. Indian J Dermatol Venereol Leprol 76(1):65-67
-
(2010)
Indian J Dermatol Venereol Leprol
, vol.76
, Issue.1
, pp. 65-67
-
-
Gupta, A.K.1
Koley, S.2
Choudhary, S.3
Bhake, A.4
Saoji, V.5
Salodkar, A.6
-
12
-
-
69849107415
-
FGFs in endochondral skeletal development
-
Horton WA, Degnin CR (2009) FGFs in endochondral skeletal development. Trends Endocrinol Metab 20(7):341-348
-
(2009)
Trends Endocrinol Metab
, vol.20
, Issue.7
, pp. 341-348
-
-
Horton, W.A.1
Degnin, C.R.2
-
13
-
-
1442351894
-
Crouzonodermoskeletal syndrome
-
Jeftha A, Stephen L, Morkel JA, Beighton P (2004) Crouzonodermoskeletal syndrome. J Clin Pediatr Dent 28(2):173-176 (Pubitemid 39090666)
-
(2004)
Journal of Clinical Pediatric Dentistry
, vol.28
, Issue.2
, pp. 173-176
-
-
Jeftha, A.1
Stephen, L.2
Morkel, J.A.3
Beighton, P.4
-
14
-
-
0026577384
-
An association of acanthosis nigricans and Crouzon syndrome
-
Koizumi H, Tomoyori T, Sato KC, Ohkawara A (1992) An association of acanthosis nigricans and Crouzon syndrome. J Dermatol 19(2):122-126
-
(1992)
J Dermatol
, vol.19
, Issue.2
, pp. 122-126
-
-
Koizumi, H.1
Tomoyori, T.2
Sato, K.C.3
Ohkawara, A.4
-
15
-
-
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(1):9-13 (Pubitemid 29103457)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.1
, pp. 9-13
-
-
Lajeunie, E.1
El, G.V.2
Le, M.M.3
Munnich, A.4
Bonaventure, J.5
Renier, D.6
-
16
-
-
17544390164
-
Síndrome de Crouzon con acantosis nigricans
-
Lapunzina P, Fernández MC, Varela Junquera JM, Arberas C, Tello AM, Gracia Bouthelier R (2002) Crouzon's syndrome with acanthosis nigricans. An Esp Pediatr 56(4):342-346 (Pubitemid 34835928)
-
(2002)
Anales Espanoles de Pediatria
, vol.56
, Issue.4
, pp. 342-346
-
-
Lapunzina, P.1
Fernandez, M.C.2
Varela, J.J.M.3
Arberas, C.4
Tello, A.M.5
Gracia, B.R.6
-
17
-
-
0030390182
-
Jugular foraminal stenosis in crouzon syndrome
-
Martinez-Perez D, Vander Woude DL, Barnes PD, Scott RM, Mulliken JB (1996) Jugular foraminal stenosis in Crouzon syndrome. Pediatr Neurosurg 25(5):252-255 (Pubitemid 27368937)
-
(1996)
Pediatric Neurosurgery
, vol.25
, Issue.5
, pp. 252-255
-
-
Martinez-Perez, D.1
Vander, W.D.L.2
Barnes, P.D.3
Scott, R.M.4
Mulliken, J.B.5
-
18
-
-
0028793472
-
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
-
Meyers GA, Orlow SJ, Munro IR, Pzylepa KA, Jabs EW (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11:462-464
-
(1995)
Nat Genet
, vol.11
, pp. 462-464
-
-
Meyers, G.A.1
Orlow, S.J.2
Munro, I.R.3
Pzylepa, K.A.4
Jabs, E.W.5
-
19
-
-
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, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO 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 (Pubitemid 27097603)
-
(1997)
American Journal of Human Genetics
, 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
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 Jr., M.M.20
Bellus, G.A.21
Francomano, C.A.22
Moloney, D.M.23
Wall, S.A.24
Wilkie, A.O.M.25
Zackai, E.H.26
more..
-
20
-
-
0033959923
-
Crouzon syndrome with acanthosis nigricans: Case report and mutational analysis
-
Nagase T, Nagase M, Hirose S, Ohmori K (2000) Crouzon syndrome with acanthosis nigricans: case report and mutational analysis. Cleft Palate Craniofac J 37(1):78-82 (Pubitemid 30065023)
-
(2000)
Cleft Palate-Craniofacial Journal
, vol.37
, Issue.1
, pp. 78-82
-
-
Nagase, T.1
Nagase, M.2
Hirose, S.3
Ohmori, K.4
-
21
-
-
58549087918
-
Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia
-
Pannier S, Couloigner V, Messaddeq N, Elmaleh-Bergès M, Munnich A, Romand R, Legeai-Mallet L (2009) Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. Biochim Biophys Acta 1792(2):140-147
-
(2009)
Biochim Biophys Acta
, vol.1792
, Issue.2
, pp. 140-147
-
-
Pannier, S.1
Couloigner, V.2
Messaddeq, N.3
Elmaleh-Bergès, M.4
Munnich, A.5
Romand, R.6
Legeai-Mallet, L.7
-
22
-
-
0022390530
-
An unusual association of acanthosis nigricans and Crouzon's disease. A case report
-
Reddy BS, Garg BR, Padiyar NV, Krishnaram AS (1985) An unusual association of acanthosis nigricans and Crouzon's disease - a case report. J Dermatol 12(1):85-90 (Pubitemid 15104303)
-
(1985)
Journal of Dermatology
, vol.12
, Issue.1
, pp. 85-90
-
-
Reddy, B.S.N.1
Garg, B.R.2
Padiyar, N.V.3
Krishnaram, A.S.4
-
23
-
-
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 non-syndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. J Neurosurg 92(4):631-636 (Pubitemid 30180668)
-
(2000)
Journal of Neurosurgery
, vol.92
, Issue.4
, pp. 631-636
-
-
Renier, D.1
Ghouzzi, V.E.2
Bonaventure, J.3
Merrer, M.L.4
Lajeunie, E.5
-
24
-
-
0033772008
-
Prominent basal emissary foramina in syndromic craniosynostosis: Correlation with phenotypic and molecular diagnoses
-
Robson CD, Mulliken JB, Robertson RL, Proctor MR, Steinberger D, Barnes PD, McFarren A, Müller U, Zurakowski D (2000) Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. AJNR Am J Neuroradiol 21(9):1707-1717
-
(2000)
AJNR Am J Neuroradiol
, vol.21
, Issue.9
, pp. 1707-1717
-
-
Robson, C.D.1
Mulliken, J.B.2
Robertson, R.L.3
Proctor, M.R.4
Steinberger, D.5
Barnes, P.D.6
McFarren, A.7
Müller, U.8
Zurakowski, D.9
-
25
-
-
0035153450
-
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3
-
DOI 10.1002/1096-8628(20010101)98:1<75::AID-AJMG1010>3.0.CO;2-6
-
Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR (2001) Subtle radiologic 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 (Pubitemid 32041854)
-
(2001)
American Journal of Medical Genetics
, vol.98
, Issue.1
, pp. 75-91
-
-
Schweitzer, D.N.1
Graham Jr., 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
-
26
-
-
77649175918
-
A newborn with acanthosis nigricans: Can it be Crouzon syndrome with acanthosis nigricans?
-
Sharda S, Panigrahi I, Gupta K, Singhi S, Kumar R (2010) A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? Pediatr Dermatol 27(1):43-47
-
(2010)
Pediatr Dermatol
, vol.27
, Issue.1
, pp. 43-47
-
-
Sharda, S.1
Panigrahi, I.2
Gupta, K.3
Singhi, S.4
Kumar, R.5
-
28
-
-
4244199214
-
A boy with craniosynostosis, choanal atresia, acantjosis nigricans, hydrocephalus and hydromyelia, stenosis of foramen magnum and vertebral canal, and multiple desmo-osteoblastomas of the jaws: Pleiotropic effects of FGFR3 A391G mutation causing a distinct craniofacial-skeletal-ectodermal dysplasia
-
Superti-Furga A, Locher M, Eich G, Huisman T, Steinlin M, King L, Cohn DH, Steinmann B, Sailer HF, Bolthauser E (1996) A boy with craniosynostosis, choanal atresia, acantjosis nigricans, hydrocephalus and hydromyelia, stenosis of foramen magnum and vertebral canal, and multiple desmo-osteoblastomas of the jaws: pleiotropic effects of FGFR3 A391G mutation causing a distinct craniofacial-skeletal-ectodermal dysplasia. Am J Hum Genet 59:A287
-
(1996)
Am J Hum Genet
, vol.59
-
-
Superti-Furga, A.1
Locher, M.2
Eich, G.3
Huisman, T.4
Steinlin, M.5
King, L.6
Cohn, D.H.7
Steinmann, B.8
Sailer, H.F.9
Bolthauser, E.10
-
29
-
-
0036886425
-
Genes, growth factors and acanthosis nigricans
-
DOI 10.1046/j.1365-2133.2002.05150.x
-
Torley D, Bellus GA, Munro CS (2002) Genes growth factors and acanthosis nigricans. Br J Dermatol 147:1096-1101 (Pubitemid 36963014)
-
(2002)
British Journal of Dermatology
, vol.147
, Issue.6
, pp. 1096-1101
-
-
Torley, D.1
Bellus, G.A.2
Munro, C.S.3
-
30
-
-
0029780070
-
A recurrent mutation ala391glu in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans
-
Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S (1996) A recurrent mutation ala391glu in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet 33:744-748
-
(1996)
J Med Genet
, vol.33
, pp. 744-748
-
-
Wilkes, D.1
Rutland, P.2
Pulleyn, L.J.3
Reardon, W.4
Moss, C.5
Ellis, J.P.6
Winter, R.M.7
Malcolm, S.8
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