What's in a face?

Nature Genetics

Volumn 12, Issue 2, 1996, Pages 124-129

  Winter, Robin M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ACROCEPHALOSYNDACTYLY; AGYRIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOM SYNDROME; BRAIN MATURATION; COCKAYNE SYNDROME; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DIGEORGE SYNDROME; FRAGILE X SYNDROME; GENE ISOLATION; GENE MAPPING; HOLOPROSENCEPHALY; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; NOONAN SYNDROME; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME; WERNER SYNDROME; WILLIAMS BEUREN SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; FACE; FEMALE; HEAD; HUMANS; MALE; MAXILLOFACIAL DEVELOPMENT; SYNDROME; SYNOSTOSIS;

EID: 0030031950     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0296-124     Document Type: Article

References (40)

1. Dixon, J. et al. Positional cloning of a gene involved in the pathognesis of Treacher Collins syndrome. Nature Genet. 12, 130-136 (1996).
2. Paavola, P., Salonen, R., Weissenbach, J. & Peltonen, L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nature Genet. 11, 213-215 (1995).
3. Erlebacher, A., Filvaroff, E.H., Gitelman, S.E. & Derynck, R. Towards a molecular understanding of skeletal development. Cell 80, 371-378 (1995).
4. Mulvihill, J.J. Craniofacial syndromes: no such thing as a single gene disease. Nature Genet. 9, 101-103 (1995).
5. Dobyns, W.B., Reiner, O., Carrozzo, R. & Ledbetter, D.H. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. J. Am. Med. Assoc. 270, 2838-2842 (1993).
6. Reiner, O. et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364, 717-721 (1993).
7. Hattori, M. et al. Miller-Dieker lissencephaly encodes a subunit of brain platelet-activating factor. Nature 370, 216-218 (1994).
8. Chong, S.S. et al. Systematic deletion analysis of MLS and ILS patients excludes a candidate gene and delineates the lissencephaly gene locus. Am. J. Hum. Genet. 57, A34 (1995).
9. Muenke, M. Holoprosencephaly as a genetic model for normal craniofacial development. Dev. Biol. 5, 293-301 (1994).
10. Muenke, M. et al. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Proc. Natl. Acad. Sci. USA 91, 8102-8106 (1994).
11. Muenke, M. et al. Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am. J. Hum. Genet. 57, 1074-1079 (1995).
12. Schell, U. et al. Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region in 2p21. Hum. Mol. Genet. 5, 223-230 (1996).
13. MacPherson, E., Estop, A. & Paulus-Thomas, J. Craniofrontonasal dysplasia in a girl with del (X)(p22.2). Am. J. Hum. Genet. 49(Supp), A774 (1991)
14. Robin, N. et al. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second on 22q11.2. Nature Genet. 11, 459-461 (1995).
15. Vortkamp, A., Gessler, M. & Grzeschik, K.-.H. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352, 539-540 (1991).
16. Hui, C.-.C. & Joyner, A.L. A mouse model of Greig cephalopolysyndactyly syndrome: the extra-toes*J mutation contains an intragenic deletion of the Gli3 gene. Nature Genet. 3, 241-246 (1993).
17. Brueton, L.A., Huson, S.M., Farren, B. & Winter, R.M. Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum ? J. Med. Genet. 27, 169-175 (1990).
18. Hurvitz, S.A. et al. The facio-audio-symphalangism syndrome: report of a case and review of the literature. Clin. Genet. 28, 61-68 (1985).
19. Brueton, L.A. et al. The acrocallosal syndrome and Greig syndrome are not allelic disorders. J. Med. Genet. 29, 635-637 (1992).
20. Salonen, R. & Herva, R. Syndrome of the month: hydrolethalus syndrome. J. Med. Genet. 27, 756-759 (1990).
21. Allanson, J.E. et al. Noonan syndrome: the changing phenotype. Am. J. Med. Genet. 21, 507-514 (1985).
22. Jamieson, C.R. et al. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nature Genet. 8, 357-360 (1994).
23. Ewart, A.K. et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet. 5, 11-16 (1993).
24. Lowery, M.C. et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am. J. Hum. Genet. 57, 49-53 (1995).
25. Driscoll, D.A. Genetic basis of DiGeorge and velocardiofacial syndromes. Curr. Opin. Pediatr. 6, 702-706 (1994).
26. Budarf, M.L. et al. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10, 269-278 (1995).
27. Holder, S.E., Winter, R.M., Kamath, S. & Scambler, P.J. Velocardiofacial syndrome in a mother and daughter variability of the clinical phenotype. J. Med. Genet. 30, 825-827 (1993).
28. Francomano, C.A. et al. The gene for Ellis van Creveld syndrome maps to chromosome 4p16. Am. J. Hum. Genet. 57, A191 (1995).
29. Badame, A.J. Progeria. Ach. Dermatol. 125, 540-544 (1989).
30. Henning, K.A. et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II FIIH. Cell 182, 555-564 (1995).
31. Cleaver, J.E. It was a very good year for DNA repair Cell 76, 1-4 (1994).
32. Goto, M. et al. Genetic linkage of Werner's syndrome to five markers on chromosome 8. Nature 355, 735-738 (1992).
33. Ellis, N.A. et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83, 655-666 (1995)
34. Pasteris, N.G. et al. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho-Rac guanine nucleotide exchange factor. Cell 79, 669-678 (1994).
35. Wilkie, A.O.M. et al. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases wtthout detectable abnormality of the alpha globin complex. Am. J. Hum. Genet. 46, 1127-1140 (1990).
36. Gibbons, R.J., Picketts, D.J., Villard, L. & Higgs, D.R. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80, 837-846 (1995).
37. Hennekam, R.C.M. Rubinstein-Taybi syndrome: a history in pictures. Clin. Dysmorphol. 2, 87-92 (1993).
38. Breuning, M.H. et al. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am. J. Hum. Genet. 52, 249-254 (1993).
39. Petrij, F. et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376, 348-351 (1995).
40. D'Arcangelo, G. & Curran, T. Smart transcription factors. Nature 376, 292-293 (1995).