| References |
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van den Boogaard MJ,
Dorland M,
Beemer FA and
van Amstel HK
(2000)
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.
Nature Genetics
24: 342343.
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Braybrook C,
Doudney K,
Marcano ACB, et al.
(2001)
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.
Nature Genetics
29: 179183.
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Celli J,
Duijf P,
Hamel BC, et al.
(1999)
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Cell
99: 143153.
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Kondo S,
Schutte BC,
Richardson RJ, et al.
(2002)
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Nature Genetics
32: 285289.
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Marazita ML,
Field LL,
Cooper ME, et al.
(2002)
Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families.
American Journal of Human Genetics
71: 349364.
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McGrath JA,
Duijf PH,
Doetsch V, et al.
(2001)
HayWells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
Human Molecular Genetics
10: 221229.
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Prescott NJ,
Lees M,
Winter RM and
Malcolm S
(2000)
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib pairs.
Human Genetics
106: 345350.
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Satokata I and
Maas R
(1994)
MSX1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development.
Nature Genetics
6: 348356.
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Sözen MA,
Suzuki K,
Tolarova MM, et al.
(2001)
Mutation of PVRL1 is associated with sporadic, nonsyndromic cleft lip/palate in northern Venezuela.
Nature Genetics
29: 141142.
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Suzuki K,
Hu D,
Bustos T, et al.
(2000)
Mutations of PVRL1, encoding a cellcell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
Nature Genetics
25: 427430.
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| Further Reading |
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Brewer C,
Holloway S,
Zawalnyski P,
Schinzel A and
Fitzpatrick D
(1998)
A chromosomal deletion map of human malformations.
American Journal of Human Genetics
63: 11531159.
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Christensen K and
Mitchell LE
(1996)
Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate: a Danish registry study.
American Journal of Human Genetics
58: 182190.
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Farrall M and
Holder S
(1992)
Familial recurrence-pattern analysis of cleft lip with or without cleft palate.
American Journal of Human Genetics
50: 270277.
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Lindsay EA
(2001)
Chromosomal microdeletions: dissecting de122q11 syndrome.
Nature Reviews Genetics
2: 858868.
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Mitchell LE
(1997)
Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal.
Genetic Epidemiology
14: 231240.
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Mitchell LE and
Risch N
(1992)
Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis.
American Journal of Human Genetics
51: 323332.
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Murray JC
(2002)
Gene/environment causes of cleft lip and/or palate.
Clinical Genetics
61: 248256.
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Sharpe J,
Ahlgren U,
Perry P, et al.
(2002)
Optical projection tomography as a tool for 3D microscopy and gene expression studies.
Science
296: 541545.
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Van Bokhoven H and
Brunner HG
(2002)
Splitting p63.
American Journal of Human Genetics
71: 113.
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Wilkie AOM and
Morriss-Kay GM
(2001)
Genetics of craniofacial development and malformation.
Nature Reviews Genetics
2: 458468.
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| Web Links |
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ePath
Interferon regulatory factor 6 (IRF6); Locus ID: 3664. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3664
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ePath
msh Homeo box homolog 1 (Drosophila) (MSX1); Locus ID: 4487. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4487
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ePath
Transforming growth factor, alpha (TGFA); Locus ID: 7039. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7039
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ePath
Transforming growth factor, beta 3 (TGFB3); Locus ID: 7043. LocusLink:
http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7043
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ePath
Interferon regulatory factor 6 (IRF6); MIM number: 607199. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?607199
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ePath
msh Homeo box homolog 1 (Drosophila) (MSX1); MIM number: 142983. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?142983
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ePath
Transforming growth factor, alpha (TGFA); MIM number: 190170. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?190170
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ePath
Transforming growth factor, beta 3 (TGFB3); MIM number: 190230. OMIM:
http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?190230
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