Apert syndrome is an autosomal dominant disorder caused by mutations of the FGFR2 gene.
Syndactyly | |
In Apert syndrome syndactyly is accompanied by a characteristic shape of the skull (acrocephaly/stenocephaly). |
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Cohen MM et al. (1993) Visceral anomalies in the Apert syndrome. |
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Erickson JD et al. (1974) A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome. |
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Hoover GH et al. (1970) The hand and Apert's syndrome. |
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Dodson WE et al. (1970) Acrocephalosyndactylia associated with a chromosomal translocation. 46,XX, t (2p-; Cq+). |
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Schauerte EW et al. (1966) Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet. |
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Leonard CO et al. (1982) Prenatal fetoscopic diagnosis of the Apert syndrome. |
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Cohen MM et al. (1995) Cutaneous manifestations of Apert syndrome. |
8. |
Cohen MM et al. (1995) Hands and feet in the Apert syndrome. |
9. |
Park WJ et al. (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. |
10. |
Cinalli G et al. (1995) Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. |
11. |
Pelz L et al. (1994) Esophageal stenosis in acrocephalosyndactyly type I. |
12. |
Czeizel AE et al. (1993) Birth prevalence study of the Apert syndrome. |
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Wilkie AO et al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. |
14. |
Renier D et al. (1996) Prognosis for mental function in Apert's syndrome. |
15. |
Tolarova MM et al. (1997) Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome. |
16. |
Lomri A et al. (1998) Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. |
17. |
Chang CC et al. (1998) Prenatal diagnosis of Apert syndrome. |
18. |
von Gernet S et al. (2000) Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. |
19. |
DODGE HW et al. (1959) Craniofacial dysostosis: Crouzon's disease. |
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None (1960) Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases. |
21. |
Quintero-Rivera F et al. (2006) Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. |
22. |
Khong JJ et al. (2006) Ophthalmic findings in apert syndrome prior to craniofacial surgery. |
23. |
Hill CA et al. (2013) Postnatal brain and skull growth in an Apert syndrome mouse model. |
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None (1986) Germinal mosaicism in Apert syndrome. |
25. |
Moloney DM et al. (1996) Exclusive paternal origin of new mutations in Apert syndrome. |
26. |
Slaney SF et al. (1996) Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. |
27. |
Oldridge M et al. (1997) Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. |
28. |
Oldridge M et al. (1999) De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. |
29. |
Lajeunie E et al. (1999) Clinical variability in patients with Apert's syndrome. |
30. |
Glaser RL et al. (2003) The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. |
31. |
Mantilla-Capacho JM et al. (2005) Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. |
32. |
Andreou A et al. (2006) Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). |
33. |
Miraoui H et al. (2010) Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. |
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None (1977) Genetic perspectives on craniosynostosis and syndromes with craniosynostosis. |
35. |
Cohen MM et al. (1992) Birth prevalence study of the Apert syndrome. |
36. |
Kreiborg S et al. (1992) Cervical spine in the Apert syndrome. |
37. |
Lefort G et al. (1992) Apert syndrome with partial preaxial polydactyly. |
38. |
None (1991) Apert syndrome. Classification and pathologic anatomy of limb anomalies. |
39. |
Cohen MM et al. (1990) The central nervous system in the Apert syndrome. |
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None (1989) Apert syndrome with polysyndactyly of the feet. |
41. |
Sidhu SS et al. (1988) Recessive inheritance of apparent Apert syndrome with polysyndactyly? |
42. |
Patton MA et al. (1988) Intellectual development in Apert's syndrome: a long term follow up of 29 patients. |
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None (1988) Male transmission of Apert syndrome. |
44. |
Maroteaux P et al. (1987) Apparent Apert syndrome with polydactyly: rare pleiotropic manifestation or new syndrome? |
45. |
Solomon LM et al. (1970) Pilosebaceous abnormalities in Apert's syndrome. |
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Orphanet article Orphanet ID 87 |
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OMIM.ORG article Omim 101200 |
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Wikipedia article Wikipedia EN (Apert_syndrome) |