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Article

Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.

American journal of medical genetics. Part A - 1 Aug 2005

Rubini Michele, Brusati Roberto, Garattini Giovanna, Magnani Cinzia, Liviero Fabio, Bianchi Fabrizio, Tarantino Enrico, Massei Alessandro, Pollastri Susanna, Carturan Sabrina, Amadori Alice, Bertagnin Elisa, Cavallaro Alessandra, Fabiano Anna, Franchella Andrea, Calzolari Elisa

Abstract excerpt

Non-syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hcy genes may act as susceptibility factors. We investigated a common polymorphism in the...

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Identifiers

PMID: 16007597
DOI: 10.1002/ajmg.a.30812

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CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.PMID 16007597Read ↗

New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

A family-based association study in Central Europeans: no evidence for the cystathionine beta-synthase c.844ins68 gene variant as a risk factor for non-syndromic cleft lip and palate.Semantic proximity Read ↗

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.Semantic proximity Read ↗

CBS c.844ins68 Polymorphism Frequencies in Control Populations: Implications on Nonsyndromic Cleft Lip With or Without Cleft Palate.Semantic proximity Read ↗

Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway.Semantic proximity Read ↗

Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip.Semantic proximity Read ↗

Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.Semantic proximity Read ↗

C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?Semantic proximity Read ↗

The MTHFD1 gene is not involved in cleft lip with or without palate onset among the Italian population.Semantic proximity Read ↗

[Association study for gene polymorphism of folic acid/homocysteine metabolic pathway and nonsyndromic cleft lip with or without cleft palate in Chinese populations].Semantic proximity Read ↗

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