-
1
-
-
0005716823
-
Apert syndrome
-
Cohen MM Jr, MacLean RE eds:, ch 24, Oxford University Press, New York
-
Cohen MM Jr: Apert syndrome; in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 24, pp 316-353 (Oxford University Press, New York, 2000).
-
(2000)
Craniosynostosis: Diagnosis, Evaluation, and Management
, pp. 316-353
-
-
Cohen Jr., M.M.1
-
2
-
-
0003671450
-
Crouzon syndrome
-
Cohen MM Jr, MacLean RE eds:, ch 26, Oxford University Press, New York
-
Cohen MM Jr: Crouzon syndrome; in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 26, pp 361-365 (Oxford University Press, New York, 2000).
-
(2000)
Craniosynostosis: Diagnosis, Evaluation, and Management
, pp. 361-365
-
-
Cohen Jr., M.M.1
-
3
-
-
0003671450
-
Pfeiffer syndrome
-
Cohen MM Jr, MacLean RE eds:, ch 25, Oxford University Press, New York
-
Cohen MM Jr: Pfeiffer syndrome; in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 25, pp 354-360 (Oxford University Press, New York, 2000).
-
(2000)
Craniosynostosis: Diagnosis, Evaluation, and Management
, pp. 354-360
-
-
Cohen Jr., M.M.1
-
5
-
-
0026568156
-
Birth prevalence study of the Apert syndrome
-
Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, et al: Birth prevalence study of the Apert syndrome. Am J Med Genet 1992;42:655-659.
-
(1992)
Am J Med Genet
, vol.42
, pp. 655-659
-
-
Cohen Jr., M.M.1
Kreiborg, S.2
Lammer, E.J.3
Cordero, J.F.4
Mastroiacovo, P.5
-
7
-
-
14044258885
-
FGFs/FGFRs and associated disorders
-
Epstein CJ, Erickson RP, Wynshaw-Boris A eds:, ch 33, Oxford University Press, New York
-
Cohen MM Jr: FGFs/FGFRs and associated disorders; in Epstein CJ, Erickson RP, Wynshaw-Boris A (eds): Inborn Errors of Development, ch 33, pp 380-400 (Oxford University Press, New York, 2004).
-
(2004)
Inborn Errors of Development
, pp. 380-400
-
-
Cohen Jr., M.M.1
-
8
-
-
0029983638
-
Exclusive paternal origin of new mutations in Apert syndrome
-
DOI 10.1038/ng0596-48
-
Moloney DM, Slaney SF, Oldridge M, Sahlin P, Stenman G, Wilkie A O M: Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 1996;13:48-53. (Pubitemid 26139293)
-
(1996)
Nature Genetics
, 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.M.7
-
9
-
-
0027385993
-
Growth and development in the Apert syndrome
-
Cohen MM Jr, Kreiborg S: Growth and development in the Apert syndrome. Am J Med Genet 1993;47:617-623.
-
(1993)
Am J Med Genet
, vol.47
, pp. 617-623
-
-
Cohen Jr., M.M.1
Kreiborg, S.2
-
12
-
-
0026646704
-
Upper and lower airway compromise in the Apert syndrome
-
Cohen MM Jr, Kreiborg S: Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 1992;44:90-93.
-
(1992)
Am J Med Genet
, vol.44
, pp. 90-93
-
-
Cohen Jr., M.M.1
Kreiborg, S.2
-
14
-
-
68249087222
-
Cloverleaf skulls: Etiologic heterogeneity and pathogenetic variability
-
Cohen MM Jr: Cloverleaf skulls: Etiologic heterogeneity and pathogenetic variability. J Craniofac Surg 2009;20:652-656.
-
(2009)
J Craniofac Surg
, vol.20
, pp. 652-656
-
-
Cohen Jr., M.M.1
-
18
-
-
0029927959
-
Skull base and calvarial deformities: Association with intracranial changes in craniofacial syndromes
-
Tokumara AM, Barkovich J, Ciricillo SF, Edwards M S B: Skull base and calvarial deformities: Association with intracranial changes in craniofacial syndromes. Am J Neuroradiol 1966;17:619-630.
-
(1966)
Am J Neuroradiol
, vol.17
, pp. 619-630
-
-
Tokumara, A.M.1
Barkovich, J.2
Ciricillo, S.F.3
Edwards, M.S.B.4
-
20
-
-
0015061338
-
The concurrence of hydrocephalus and craniosynostosis
-
Fishman MA, Hogan GR, Dodge PR: The concurrence of hydrocephalus and craniosynostosis. J Neurosurg 1971;34:621-629.
-
(1971)
J Neurosurg
, vol.34
, pp. 621-629
-
-
Fishman, M.A.1
Hogan, G.R.2
Dodge, P.R.3
-
21
-
-
0015151451
-
Hydrocephalus in Apert's syndrome
-
Hogan GR, Bauman ML: Hydrocephalus in Apert's syndrome. J Pediatr 1971;79:782-787.
-
(1971)
J Pediatr
, vol.79
, pp. 782-787
-
-
Hogan, G.R.1
Bauman, M.L.2
-
22
-
-
26044483012
-
Hydrocephalus in craniosynostosis: A review
-
DOI 10.1007/s00381-004-1116-y
-
Collmann H, Sörensen N, Krauss J: Hydrocephalus in craniosynostosis: A review. Childs Nerv Syst 2005;21:902-912. (Pubitemid 41403533)
-
(2005)
Child's Nervous System
, vol.21
, Issue.10
, pp. 902-912
-
-
Collmann, H.1
Sorensen, N.2
Krauss, J.3
-
23
-
-
0029949408
-
Prognosis for mental function in Apert's syndrome
-
Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D: Prognosis for mental function in Apert's syndrome. J Neurosurg 1966;85:66-72.
-
(1966)
J Neurosurg
, vol.85
, pp. 66-72
-
-
Renier, D.1
Arnaud, E.2
Cinalli, G.3
Sebag, G.4
Zerah, M.5
Marchac, D.6
-
24
-
-
0029840411
-
Pronostic mental du syndrome d'Apert
-
DOI 10.1016/0929-693X(96)82156-7
-
Renier D, Arnaud E, Cinalli G, Marchac D, Brunet L, et al: Mental prognosis of Apert syndrome. Arch Pédiatr 1996;3:752-760. (Pubitemid 26267595)
-
(1996)
Archives de Pediatrie
, vol.3
, Issue.8
, pp. 752-760
-
-
Renier, D.1
Arnaud, E.2
Cinalli, G.3
Marchac, D.4
Brunet, L.5
Sebag, G.6
Sainte-Rose, C.7
Zerah, M.8
-
26
-
-
0029101376
-
Chronic tonsillar herniation in Crouzon's and Apert's syndrome: The role of premature synostosis of the lambdoid suture
-
Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A: Chronic tonsillar herniation in Crouzon's and Apert's syndrome: The role of premature synostosis of the lambdoid suture. J Neurosurg 1995;83:575-582.
-
(1995)
J Neurosurg
, vol.83
, pp. 575-582
-
-
Cinalli, G.1
Renier, D.2
Sebag, G.3
Sainte-Rose, C.4
Arnaud, E.5
Pierre-Kahn, A.6
-
27
-
-
0022972508
-
A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome
-
DOI 10.1016/0007-1226(86)90122-0
-
Lefèbvre A, Travis F, Arndt EM, Munro IR: A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome. Br J Plast Surg 1986;39:510-513. (Pubitemid 17205641)
-
(1986)
British Journal of Plastic Surgery
, vol.39
, Issue.4
, pp. 510-513
-
-
Lefebvre, A.1
Travis, F.2
Arndt, E.M.3
Munro, I.R.4
-
28
-
-
0029877871
-
Suture formation, premature sutural fusion, and suture default zones in Apert syndrome
-
Cohen MM Jr, Kreiborg S: Suture formation, premature sutural fusion, and suture default zones in Apert syndrome. Am J Med Genet 1996;62:339-344.
-
(1996)
Am J Med Genet
, vol.62
, pp. 339-344
-
-
Cohen Jr., M.M.1
Kreiborg, S.2
-
29
-
-
0025669023
-
Characteristics of the infant Apert skull and its subsequent development
-
Kreiborg S, Cohen MM Jr: Characteristics of the infant Apert skull and its subsequent development. J Craniofac J Dev Biol 1990;10:399-410.
-
(1990)
J Craniofac J Dev Biol
, vol.10
, pp. 399-410
-
-
Kreiborg, S.1
Cohen Jr., M.M.2
-
30
-
-
0027234483
-
Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes
-
Kreiborg S, Marsh JL, Cohen MM Jr, Liversage M, Pedersen H, et al: Comparative three-dimensional analysis of CTscans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg 1993;21:181-188. (Pubitemid 23225515)
-
(1993)
Journal of Cranio-Maxillo-Facial Surgery
, vol.21
, Issue.5
, pp. 181-188
-
-
Kreiborg, S.1
Marsh, J.L.2
Cohen Jr., M.M.3
Liversage, M.4
Pedersen, H.5
Skovby, F.6
Borgesen, S.E.7
Vannier, M.W.8
-
32
-
-
77957333757
-
Ocular manifestations of Apert and Crouzon syndromes: Qualitative and quantitative findings
-
Kreiborg S, Cohen MM Jr: Ocular manifestations of Apert and Crouzon syndromes: Qualitative and quantitative findings. J Craniofac Surg 2010;21:1354-1357.
-
(2010)
J Craniofac Surg
, vol.21
, pp. 1354-1357
-
-
Kreiborg, S.1
Cohen Jr., M.M.2
-
34
-
-
64549143408
-
Inner ear anomalies and conductive hearing loss in children with Apert syndrome: An overlooked otologic aspect
-
Zhou G, Schwartz LT, Gopen Q: Inner ear anomalies and conductive hearing loss in children with Apert syndrome: An overlooked otologic aspect. Otol Neurotol 2009;30:184-189.
-
(2009)
Otol Neurotol
, vol.30
, pp. 184-189
-
-
Zhou, G.1
Schwartz, L.T.2
Gopen, Q.3
-
37
-
-
0029655164
-
Cutaneous manifestations of the Apert syndrome
-
Cohen MM Jr, Kreiborg S: Cutaneous manifestations of the Apert syndrome. Am J Med Genet 1995;58:94-96.
-
(1995)
Am J Med Genet
, vol.58
, pp. 94-96
-
-
Cohen Jr., M.M.1
Kreiborg, S.2
-
38
-
-
33750551941
-
Apert syndrome: What prenatal radiographic findings should prompt its consideration?
-
DOI 10.1002/pd.1539
-
Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benon C, Mulliken JB, Kimonis E: Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenat Diagn 2006;26:966-972. (Pubitemid 44671050)
-
(2006)
Prenatal Diagnosis
, vol.26
, Issue.10
, pp. 966-972
-
-
Quintero-Rivera, F.1
Robson, C.D.2
Reiss, R.E.3
Levine, D.4
Benson, C.5
Mulliken, J.B.6
Kimonis, V.E.7
-
39
-
-
0028798546
-
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
-
Wilkie A O M, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, et al: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-172.
-
(1995)
Nat Genet
, vol.9
, pp. 165-172
-
-
Wilkie, A.O.M.1
Slaney, S.F.2
Oldridge, M.3
Poole, M.D.4
Ashworth, G.J.5
-
40
-
-
0033073850
-
De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
-
Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Moriss-Kay GM, et al: De novo Alu element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 1999;64:446-461. (Pubitemid 129500527)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.2
, pp. 446-461
-
-
Oldridge, M.1
Zackai, E.H.2
McDonald-McGinn, D.M.3
Iseki, S.4
Morriss-Kay, G.M.5
Twigg, S.R.F.6
Johnson, D.7
Wall, S.A.8
Jiang, W.9
Theda, C.10
Jabs, E.W.11
Wilkie, A.O.M.12
-
41
-
-
0037158283
-
Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2 [2]
-
DOI 10.1002/ajmg.10486
-
Wilkie A O M: Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet 2002;111:105. (Pubitemid 34761591)
-
(2002)
American Journal of Medical Genetics
, vol.111
, Issue.1
, pp. 105
-
-
Wilkie, A.O.M.1
-
42
-
-
0029883637
-
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
-
Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, Wilkie A O M: Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996;58:923-932. (Pubitemid 26115163)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.5
, pp. 923-932
-
-
Slaney, S.F.1
Oldridge, M.2
Hurst, J.A.3
Morriss-Kay, G.M.4
Hall, C.M.5
Poole, M.D.6
Wilkie, A.O.M.7
-
43
-
-
0042490798
-
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
-
DOI 10.1126/science.1085710
-
Goriely A, McVean G A T, Röjmyr M, Ingemarsson B, Wilkie A O M: Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 2003;301:643-646. (Pubitemid 36927947)
-
(2003)
Science
, vol.301
, Issue.5633
, pp. 643-646
-
-
Goriely, A.1
McVean, G.A.T.2
Rojmyr, M.3
Ingemarsson, B.4
Wilkie, A.O.M.5
-
44
-
-
0019757241
-
Crouzon syndrome. A clinical and roentgencephalometric study
-
Kreiborg S: Crouzon syndrome. A clinical and roentgencephalometric study. Scand J Plast Reconstr Surg Hand Surg 1981; (suppl 18):1-198.
-
(1981)
Scand J Plast Reconstr Surg Hand Surg
, Issue.SUPPL. 18
, pp. 1-198
-
-
Kreiborg, S.1
-
45
-
-
0009928191
-
Heredity, craniofacial dysostosis, or Crouzon disease
-
Atkinson F R B: Heredity, craniofacial dysostosis, or Crouzon disease. Méd Press Circular 1937;195:118-124.
-
(1937)
Méd Press Circular
, vol.195
, pp. 118-124
-
-
Atkinson, F.R.B.1
-
46
-
-
1842523864
-
Craniofacial dysostosis of Crouzon: A case report and pedigree with emphasis on heredity
-
Shiller G: Craniofacial dysostosis of Crouzon: A case report and pedigree with emphasis on heredity. Pediatrics 1959;23:107-112.
-
(1959)
Pediatrics
, vol.23
, pp. 107-112
-
-
Shiller, G.1
-
47
-
-
0033772008
-
Prominent basal emissary foramina in craniosynostosis
-
Robson CD, Mulliken JB: Prominent basal emissary foramina in craniosynostosis. Am J Neuroradiology 2000;21:1707-1717.
-
(2000)
Am J Neuroradiology
, vol.21
, pp. 1707-1717
-
-
Robson, C.D.1
Mulliken, J.B.2
-
48
-
-
0000673521
-
Postnatal growth and development of the craniofacial complex in premature craniosynostosis
-
ch 13, Oxford University Press, New York, Cohen MM Jr, MacLean RE
-
Kreiborg S: Postnatal growth and development of the craniofacial complex in premature craniosynostosis, in Cohen MM Jr, MacLean RE (eds): Craniosynostosis: Diagnosis, Evaluation, and Management, ch 13, pp 158-174 (Oxford University Press, New York, 2000).
-
(2000)
Craniosynostosis: Diagnosis, Evaluation, and Management
, pp. 158-174
-
-
Kreiborg, S.1
-
49
-
-
8044233698
-
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2
-
DOI 10.1093/hmg/6.1.137
-
Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, et al: Genotype-phenotype correlations for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet 1997;6:137-143. (Pubitemid 27033977)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.1
, pp. 137-143
-
-
Oldridge, M.1
Lunt, P.W.2
Zackai, E.H.3
McDonald-McGinn, D.M.4
Muenke, M.5
Moloney, D.M.6
Twigg, S.R.F.7
Heath, J.K.8
Howard, T.D.9
Hoganson, G.10
Gagnon, D.M.11
Jabs, E.W.12
Wilkie, A.O.M.13
-
50
-
-
18244368758
-
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
-
DOI 10.1086/338758
-
Kan S-H, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, et al: Genomic screening of fibroblast growth factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Med Genet 2002;70:472-486. (Pubitemid 34112300)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.2
, pp. 472-486
-
-
Kan, S.-H.1
Elanko, N.2
Johnson, D.3
Cornejo-Roldan, L.4
Cook, J.5
Reich, E.W.6
Tomkins, S.7
Verloes, A.8
Twigg, S.R.F.9
Rannan-Eliya, S.10
McDonald-McGinn, D.M.11
Zackai, E.H.12
Wall, S.A.13
Muenke, M.14
Wilkie, A.O.M.15
-
51
-
-
0033531968
-
Let's call it 'Crouzondermoskeletal syndrome' so we won't be prisoners of our own conventional terminology
-
Cohen MM Jr: Let's call it 'Crouzondermoskeletal syndrome' so we won't be prisoners of our own conventional terminology. Am J Med Genet 1999;84:74.
-
(1999)
Am J Med Genet
, vol.84
, pp. 74
-
-
Cohen Jr., M.M.1
-
52
-
-
0027476349
-
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
-
DOI 10.1002/ajmg.1320450305
-
Cohen MM Jr: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993;45:300-307. (Pubitemid 23033144)
-
(1993)
American Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 300-307
-
-
Cohen Jr., M.M.1
-
53
-
-
0032559241
-
Pfeiffer syndrome type 2: Further delineation and review of the literature
-
DOI 10.1002/(SICI)1096-8628(19980123)75:3<245::AID-AJMG3>3.0.CO;2-P
-
Plomp AS, Hamel B C J, Cobben JM, Verloes A, Offermans J P M, et al: Pfeiffer syndrome type 2: Further delineation and review of the literature. Am J Med Genet 1998;75:245-251. (Pubitemid 28076848)
-
(1998)
American Journal of Medical Genetics
, vol.75
, Issue.3
, pp. 245-251
-
-
Plomp, A.S.1
Hamel, B.C.J.2
Cobben, J.M.3
Verloes, A.4
Offermans, J.P.M.5
Lajeunie, E.6
Fryns, J.P.7
De Die-Smulders, C.E.M.8
-
54
-
-
0032559251
-
Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification
-
DOI 10.1002/(SICI)1096-8628(19980123)75:3<240::AID-AJMG2>3.0.CO;2-U
-
Robin NH, Scott JA, Arnold JF, Goldstein JA, Shilling BB, Marion RW, Cohen MM Jr: Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification. Am J Med Genet 1998;75:240-244. (Pubitemid 28076847)
-
(1998)
American Journal of Medical Genetics
, vol.75
, Issue.3
, pp. 240-244
-
-
Robin, N.H.1
Scott, J.A.2
Arnold, J.E.3
Goldstein, J.A.4
Shilling, B.B.5
Marion, R.W.6
Cohen Jr., M.M.7
-
55
-
-
0028046606
-
A common mutation in the fibroblast growth factor 1 gene in Pfeiffer syndrome
-
Muenke M, Schell T, Hehr A, Robin NH, Losken HW, et al: A common mutation in the fibroblast growth factor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269-273.
-
(1994)
Nat Genet
, vol.8
, pp. 269-273
-
-
Muenke, M.1
Schell, T.2
Hehr, A.3
Robin, N.H.4
Losken, H.W.5
-
56
-
-
0031904629
-
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III
-
DOI 10.1002/(SICI)1096-8628(19980724)78:4<356::AID-AJMG10>3.0.CO;2- H
-
Gripp KW, Stolle CA, McDonald-McGinn DM, Markowitz RI, Bartlett SP, et al: Phenotype of fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome III. Am J Med Genet 1998;78:356-360. (Pubitemid 28364406)
-
(1998)
American Journal of Medical Genetics
, vol.78
, Issue.4
, 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
-
57
-
-
0032992570
-
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
-
DOI 10.1007/s004390050979
-
Cornejo-Roldan LR, Roessler E, Muenke M: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999;104:425-431. (Pubitemid 29286801)
-
(1999)
Human Genetics
, vol.104
, Issue.5
, pp. 425-431
-
-
Cornejo-Roldan, L.R.1
Roessler, E.2
Muenke, M.3
-
58
-
-
0031559395
-
Pfeiffer syndrome in an Apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene?
-
Passos-Bueno MR, Sertié AL, Zatz M, Richieri-Costa A: Pfeiffer syndrome in an Apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene? Am J Med Genet 1997;71:243-245.
-
(1997)
Am J Med Genet
, vol.71
, pp. 243-245
-
-
Passos-Bueno, M.R.1
Sertié, A.L.2
Zatz, M.3
Richieri-Costa, A.4
-
59
-
-
0031823239
-
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly
-
Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A: Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. J Med Genet 1998;35:677-679. (Pubitemid 28371983)
-
(1998)
Journal of Medical Genetics
, vol.35
, Issue.8
, pp. 677-679
-
-
Passos-Bueno, M.R.1
Richieri-Costa, A.2
Sertie, A.L.3
Kneppers, A.4
-
60
-
-
0029671080
-
FGFR2 exon IIIa and IIIc mutations in Crouzon syndrome, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing
-
Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, et al: FGFR2 exon IIIa and IIIc mutations in Crouzon syndrome, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 1996;58:491-498.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 491-498
-
-
Meyers, G.A.1
Day, D.2
Goldberg, R.3
Daentl, D.L.4
Przylepa, K.A.5
|