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Cleft Lip

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2741. Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition. Full Text available with Trip Pro

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.

1987 Journal of Medical Genetics

2742. Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Full Text available with Trip Pro

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

1986 American Journal of Human Genetics

2743. Genetics of cleft lip and cleft palate in China. Full Text available with Trip Pro

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

1982 American Journal of Human Genetics

2744. A three generation family study of cleft lip with or without cleft palate. Full Text available with Trip Pro

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

1982 Journal of Medical Genetics

2745. Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Full Text available with Trip Pro

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

1992 American Journal of Human Genetics

2746. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6. Full Text available with Trip Pro

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

1996 American Journal of Human Genetics

2747. Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Full Text available with Trip Pro

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

1995 American Journal of Human Genetics

2748. Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4. Full Text available with Trip Pro

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

1995 American Journal of Human Genetics

2749. Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. Full Text available with Trip Pro

Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here we extend our original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs (...) at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI

1992 American Journal of Human Genetics

2750. Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Full Text available with Trip Pro

Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Nonsyndromic cleft lip with or without cleft palate (CL +/- P) is traditionally recognized as a multifactorial threshold trait (MFT). Recently, however, evidence for the involvement of a major gene in the etiology of CL +/- P has been reported. To assess the potential for major-gene involvement in the etiology of this trait, familial recurrence patterns from several family studies of CL +/- P were

1992 American Journal of Human Genetics

2751. Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. Full Text available with Trip Pro

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

1992 American Journal of Human Genetics

2752. Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. Full Text available with Trip Pro

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

1996 American Journal of Human Genetics

2753. Nonsyndromic cleft lip with or without cleft palate: erratum. Full Text available with Trip Pro

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

1996 American Journal of Human Genetics

2754. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate. Full Text available with Trip Pro

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

1994 American Journal of Human Genetics

2755. Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families Full Text available with Trip Pro

Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly. Birth prevalences range from 1/500 to 1/1,000 and are consistently higher in Asian populations than in populations of European descent. Therefore, it is of interest to determine whether the CL/P etiological factors in Asian populations differ from those in white populations. A sample of 36 multiplex families were

2002 American Journal of Human Genetics

2756. Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2. Full Text available with Trip Pro

Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2. Results from a genome-wide screen of 10 multiplex families ascertained through probands with nonsyndromic cleft lip with or without cleft palate (CL/P) in Mexico, Argentina, and the United States yielded suggestive evidence of linkage to chromosomes 2, 6, 17 and 18. Fine mapping excluded all regions except chromosome 2. Subsequent analysis was performed on the original 10 families plus

2003 European Journal of Human Genetics

2757. Incidence and outcome of middle ear disease in cleft lip and/or cleft palate. (Abstract)

Incidence and outcome of middle ear disease in cleft lip and/or cleft palate. Otitis media with effusion is known to be very common among children with cleft palate, however, less is known regarding the natural history and outcome in this group. The purpose of the present study was to examine the incidence, natural history, treatment, and outcome of middle ear disease in children with clefts.A questionnaire was sent to the parents of all children registered on the cleft lip and palate database (...) at our institution. The medical records of all respondents were also reviewed. Statistical analysis of the results was performed using Fisher's exact test in contingency tables and binary logistic regression analyses, where appropriate.397 fully completed questionnaires were returned. Ear disease was much more common in children with cleft palate, or cleft lip and palate, than in children with cleft lip. Among children with cleft palate, ear problems (infections and/or hearing loss) were most

2003 International Journal of Pediatric Otorhinolaryngology

2758. Demographic and prenatal factors of patients with cleft lip and cleft palate. A pilot study. (Abstract)

Demographic and prenatal factors of patients with cleft lip and cleft palate. A pilot study. Cleft lip, or CL, and cleft palate, or CP, are common congenital abnormalities. Birth prevalence ranges from one in every 500 to 1,000 in the white population and one in every 2,000 births in the African-American population. Etiologic and genetic factors contributing to CL and CP development are unknown though extensive research has been conducted. The authors conducted this pilot study to investigate (...) a study design that could allow for an evaluation of such etiologic factors by providing the required estimate of the projected magnitude of differences between cases and controls.The authors obtained pregnancy history data from the mothers of 137 consecutive patients at the University of Pittsburgh Cleft Palate-Craniofacial Center. The authors investigated the differences between sex or cleft status and family history of clefts, birth order, maternal age at birth and first-trimester maternal smoking

2003 Journal of the American Dental Association

2759. 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

2760. Cleft lip and palate, lower lip pits, and limb deficiency defects. Full Text available with Trip Pro

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.

1988 Journal of Medical Genetics

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