Developmental genes and dysmorphology;Genes du developpement et dysmorphologie

Revue du Praticien

Volumn 47, Issue 2, 1997, Pages 169-173

  Lacombe, Didier ^a  

^a HÔPITAL PELLEGRIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONGENITAL MALFORMATION; DEVELOPMENTAL GENETICS; FAMILY STUDY; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; ONCOGENE; CHILD; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL GENE; GENE; GENE EXPRESSION REGULATION; GENETIC TRANSCRIPTION; GENETICS; MULTIPLE MALFORMATION SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CRANIOFACIAL ABNORMALITIES; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES; GENES, DEVELOPMENTAL; HUMANS; TRANSCRIPTION, GENETIC;

EID: 0031027778     PISSN: 00352640     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Smith DW. Dysmorphology (teratology). J Pediatr 1966 ; 69 : 1150-69.
2. Battin J, Lacombe D. La dysmorphologie et la syndromologie : une actívité de zénéticiens pédiatres. Arch Pediatr 1995 ; 2 : 615-8.
3. Winter RM: Recent molecular advances in dysmorphology. Hum Mol Genet 1995 ; 4 : 1699-704.
4. Lacombe D. Clinical dysmorphology beyond developmental genetics : Recent advances in some human developmental genes. Ann Genet 1995 ; 38 : 137-44.
5. Turk J, Hill P. Behavioural phenotypes in dysmorphic syndromes. Clin Dysmorphol 1995 ; 4 : 105-15.
6. Tassabehji M, Read AP, Newton VE et al. Waardenburg syndrome patients have mutations in the human homologue of the PAX-3 paired box gene. Nature 1992 ; 355 : 635-6.
7. Tassabehjl M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphtaimia (MIFT) gene. Nat Genet 1994 ; 8 : 251-5.
8. Rousseau F, Bonaventure J, Legeal-Mallet L et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994 ; 371 : 252-4.
9. Cohen MM Jr. Craniosynostoses : Phenotypic/molecular correlations. Am J Med Genet 1995 ; 56 : 34-9.
10. Kingsley DM, Bland AE, Grubber JM et al. The mouse short ear skeletal morphogenesis locus Is associated with defects in a bone morphogenetic member of the TGF-β superfamily. Cell 1992 ; 71 : 399-410.
11. Lacombe D, Toutain A, Goriin RJ, Oley CA, Battin J. Clinical identification of a human equivalent to the short ear (se) murine phenotype. Ann Genet 1994 ; 37 : 184-91.
12. Thomas JT, Lin K, Nandedkar M, Camargo M, Cervenka J, Luyten FP. A human chondrodysplasia due to a mutation in a TGF-β superfamily member. Nat Genet 1996 ; 12 : 315-7.
13. Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 1995 ; 80 : 837-45.
14. Petrij F, Giles RH Dauwerse HG et al. Rubin-stein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995 ; 376 : 348-51.