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Cleft Lip

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2881. Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. (PubMed)

Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. Orientals are at higher risk for cleft lip with or without cleft palate (CL +/- P) than Caucasians or blacks. We collected demographic and family data to study factors contributing to the etiology of CL +/- P in Shanghai. The birth incidence of nonsyndromic CL +/- P (Shanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL +/- P probands were ascertained from

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1992 American Journal of Human Genetics

2882. Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus. (PubMed)

Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus. Ninety extended families having one or more individuals affected with nonsyndromic cleft lip (CL) with or without cleft palate (CL/P) were ascertained in rural West Bengal, India. These families included 138 affected people, 64% of whom had CL alone and 66% of whom were male. Multiple-affected-member ("multiplex") pedigrees were less common than single-affected-member ("simplex

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1993 American Journal of Human Genetics

2883. Familial recurrence-pattern analysis of cleft lip with or without cleft palate. (PubMed)

Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Cleft lip with or without cleft palate (CL/P) is a common congenital malformation with an incidence in European white populations of about 1/1,000. The familial clustering of CL/P has been extensively characterized, and epidemiological studies have proposed monogenic models (with reduced penetrance), multifactorial/threshold models, and mixed major-gene/multifactorial models to explain its inheritance

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1992 American Journal of Human Genetics

2884. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate. (PubMed)

Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate. The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families

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1994 American Journal of Human Genetics

2885. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL +/- P) (PubMed)

Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL +/- P) 8213839 1993 11 19 2018 11 13 0002-9297 53 5 1993 Nov American journal of human genetics Am. J. Hum. Genet. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL +/- P) 1156-7 Shaw D D Ray A A Marazita M M Field L L eng R01 DE016148 DE NIDCR NIH HHS United (...) States Letter Comment United States Am J Hum Genet 0370475 0002-9297 0 RARA protein, human 0 Receptors, Retinoic Acid 0 Retinoic Acid Receptor alpha IM Am J Hum Genet. 1992 Dec;51(6):1377-85 1361101 Alleles Child Cleft Lip genetics Cleft Palate genetics Female Genetic Linkage Humans Male Receptors, Retinoic Acid genetics Retinoic Acid Receptor alpha 1993 11 1 1993 11 1 0 1 1993 11 1 0 0 ppublish 8213839 PMC1682320 Am J Hum Genet. 1992 Dec;51(6):1377-85 1361101 Teratology. 1990 Dec;42(6):597-610

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1993 American Journal of Human Genetics

2886. Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. (PubMed)

Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. Candidate genes and marker loci for cleft lip/palate (CL/P) were tested using linkage analyses and association studies. Eight British families with apparent autosomal dominant inheritance of non-syndromic CL/P participated in the linkage analyses while the association analyses involved 61 unrelated British white people with CL/P and 60 controls. The report of an association

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1993 Journal of Medical Genetics

2887. Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate. (PubMed)

Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate. 7914931 1994 09 22 2018 11 13 0022-2593 31 5 1994 May Journal of medical genetics J. Med. Genet. Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate. 425 Mitchell L E LE eng Comment Letter England J Med Genet 2985087R 0022-2593 0 Receptors, Retinoic Acid EC (...) 3.1.21.4 CTGCAG-specific type II deoxyribonucleases EC 3.1.21.4 Deoxyribonucleases, Type II Site-Specific IM J Med Genet. 1993 Sep;30(9):773-8 8411074 Chi-Square Distribution Cleft Lip genetics Cleft Palate genetics Deoxyribonucleases, Type II Site-Specific Genetic Linkage Humans Odds Ratio Polymorphism, Restriction Fragment Length Receptors, Retinoic Acid genetics Reproducibility of Results 1994 5 1 1994 5 1 0 1 1994 5 1 0 0 ppublish 7914931 PMC1049885 Am J Hum Genet. 1992 Dec;51(6):1377-85 1361101 J

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1994 Journal of Medical Genetics

2888. Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. (PubMed)

Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. 8751880 1996 09 25 2018 11 13 0002-9297 59 3 1996 Sep American journal of human genetics Am. J. Hum. Genet. Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. 743-4 Amos C C Gasser D D Hecht J T JT eng Letter United States Am J Hum Genet 0370475 0002-9297 0 Apolipoprotein C-II 0 Apolipoproteins C 0 Proto-Oncogene Proteins 0 Transcription Factors 0 proto-oncogene protein bcl-3 IM Am J Hum Genet (...) 1997 Apr;60(4):1012 Apolipoprotein C-II Apolipoproteins C genetics Child Chromosomes, Human, Pair 19 genetics Cleft Lip genetics Cleft Palate genetics Computer Simulation Genetic Linkage Humans Models, Genetic Proto-Oncogene Proteins genetics Transcription Factors 1996 9 1 1996 9 1 0 1 1996 9 1 0 0 ppublish 8751880 PMC1914915 Am J Hum Genet. 1988 Feb;42(2):315-26 3422543 Am J Hum Genet. 1993 Oct;53(4):908-15 8213819 Am J Hum Genet. 1995 Aug;57(2):227-32 7668246 Am J Hum Genet. 1995 Aug;57(2):257-72

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1996 American Journal of Human Genetics

2889. Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. (PubMed)

Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene

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1995 American Journal of Human Genetics

2890. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6. (PubMed)

Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6. 8554062 1996 02 21 2018 11 13 0002-9297 58 1 1996 Jan American journal of human genetics Am. J. Hum. Genet. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6. 239-41 Blanton S H SH Crowder E E Malcolm S S Winter R R Gasser D L DL Stal S S Mulliken J J Hecht J T JT eng 5R29 DE09954-03 DE NIDCR NIH HHS United States DE09164 DE NIDCR NIH HHS (...) United States Comparative Study Letter Research Support, U.S. Gov't, P.H.S. United States Am J Hum Genet 0370475 0002-9297 0 Genetic Markers IM Chromosome Mapping Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 6 Cleft Lip complications genetics Cleft Palate complications genetics Family Genetic Linkage Genetic Markers Humans Lod Score Recombination, Genetic 1996 1 1 1996 1 1 0 1 1996 1 1 0 0 ppublish 8554062 PMC1914942 Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6 6587361 Clin Genet. 1987 Aug

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1996 American Journal of Human Genetics

2891. Nonsyndromic cleft lip with or without cleft palate: erratum. (PubMed)

Nonsyndromic cleft lip with or without cleft palate: erratum. 8751881 1996 09 25 2018 11 13 0002-9297 59 3 1996 Sep American journal of human genetics Am. J. Hum. Genet. Nonsyndromic cleft lip with or without cleft palate: erratum. 744 Amos C C Stein J J Mulliken J B JB Stal S S Malcolm S S Winter R R Blanton S H SH Seemanova E E Gasser D L DL Hecht J T JT eng Letter United States Am J Hum Genet 0370475 0002-9297 IM Cleft Lip genetics Cleft Palate genetics Humans Linkage Disequilibrium 1996 9 1

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1996 American Journal of Human Genetics

2892. Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. (PubMed)

Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. Recent studies suggest that the familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL +/- P) is likely to be attributable to the effects of several susceptibility loci, acting in a multiplicative fashion. Two potential CL +/- P susceptibility loci (CSL), transforming growth factor alpha (TGFA) and retinoic acid receptor (RARA

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1995 American Journal of Human Genetics

2893. A three generation family study of cleft lip with or without cleft palate. (PubMed)

A three generation family study of cleft lip with or without cleft palate. A family study of cleft lip, with or without cleft palate, was based on those treated by operation at The Hospital for Sick Children, London, between 1920 and 1939 in order to give information on the proportion affected of children and grandchildren. The probands were those who had survived, were successfully traced, and found to have had at least one child. Care was taken to exclude patients who were traced through (...) of parents affected is attributed to reduced reproductive fitness of patients born two generations ago. The proportion affected of nephews and nieces, aunts and uncles, and grandchildren was 0.47% (+/- 0.18), 0.59% (+/- 0.13), and 0.8% (+/- 0.6) respectively. The proportion affected of first cousins was 0.27% (+/- 0.08). The birth frequency of cleft lip (+/- cleft palate) is estimated to be about 0.1% in England. There were two first cousin and one second cousin marriages among the marriages

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1982 Journal of Medical Genetics

2894. Genetics of cleft lip and cleft palate in China. (PubMed)

Genetics of cleft lip and cleft palate in China. During the past 10 years, 60 cases of cleft lip with or without cleft palate [CL(P)] were recorded among 45,072 newborns at Shanghai International Peace Maternity and Infant Hospital, China. The incidence was 1.33 per 1,000 births. The family histories of 163 CL(P) patients were analyzed. The incidences of CL(P) in the first-, second-, and third-degree relatives of CL(P) patients were 11/246 (4.47%), 10/1,032 (0.97%), and 6/1,727 (0.35

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1982 American Journal of Human Genetics

2895. Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. (PubMed)

Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. An association between nonsyndromic cleft lip with or without cleft palate (CL +/- P) and genetic variation at the transforming growth factor alpha (TGFA) locus was originally reported in 1989. Subsequent population-based studies of this association have provided conflicting results. The present analyses were undertaken to determine if the cumulative weight of the available data (...) , but not controls, from different studies. The data suggest that the observed heterogeneity is unlikely to be attributable to differences in the ethnic composition of the cases among the various studies but may reflect differences in the proportion of cases with bilateral lip defects and/or with positive family histories of CL +/- P. Definitive conclusions regarding the source(s) of the observed heterogeneity could not, however, be drawn on the basis of the available data. Hence, at present, the evidence

1997 Genetic epidemiology

2896. Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. (PubMed)

Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. The genetic basis of cleft lip with or without cleft palate [CL(P)] remains unresolved. The controversy on the role of a major gene is confounded with possible population differences. This study examines the issue of population differences by comparing two contrasting populations: Caucasians and Japanese. Japanese are known to have higher population incidence of CL(P) and yet lower

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1986 American Journal of Human Genetics

2897. Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition. (PubMed)

Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition. Previous studies have suggested that asymmetry for certain bilaterally represented features may be an indicator of genetic predisposition to cleft lip with or without cleft palate and may therefore be of value in the individual assessment of recurrence risk, particularly for sporadic cases. An asymmetry score has been devised that may be of use in identifying those with a high (...) level of genetic predisposition. Stepwise logistic regression selected nine variables that together correctly classified 85% of familial cleft patients and unrelated non-cleft controls. Applying the same regression equation to sporadic cases, 26% fell into the range occupied by the majority of familial patients, suggesting that these had a high level of genetic predisposition.

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1987 Journal of Medical Genetics

2898. Assessing the Results of Lip Surgery in Patients With Cleft Lip and Palate

Assessing the Results of Lip Surgery in Patients With Cleft Lip and Palate Assessing the Results of Lip Surgery in Patients With Cleft Lip and Palate - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more (...) . Assessing the Results of Lip Surgery in Patients With Cleft Lip and Palate The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT00070811 Recruitment Status : Completed First Posted : October 13, 2003 Last Update Posted : July 4, 2013 Sponsor: University of North Carolina, Chapel Hill Collaborator: National

2003 Clinical Trials

2899. Cleft lip and palate, lower lip pits, and limb deficiency defects. (PubMed)

Cleft lip and palate, lower lip pits, and limb deficiency defects. Cleft lip or palate and lower lip pits are typical features of the autosomal dominantly inherited Van der Woude syndrome. Limb defects have not been reported in this syndrome so far. A girl with a unilateral complete cleft lip and palate, bilateral lower lip pits, and amniotic deformities of all four limbs is reported and the possibility of chance occurrence of cleft lip and palate, lower lip pits, and limb defects is discussed.

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1988 Journal of Medical Genetics

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