A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate-Reference-Cited by-同舟云学术

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate

Published:2013-04 Issue:4 Volume:56 Page:222-225
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Izzo Giselle,Freitas Érika L.,Krepischi Ana Cristina V.,Pearson Peter L.,Vasques Luciana R.,Passos-Bueno Maria Rita S.,Bertola Débora R.,Rosenberg Carla

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference11 articles.

1. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate;Yoshiura;Genomics,1998

2. Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families;Wyszynski;Hum. Genet.,1997

3. Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features;Leal;Eur. J. Med. Genet.,2009

4. A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis;Yamamoto;Biochem. Biophys. Res. Commun.,2001

5. 40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features;Izzo;Eur. J. Med. Genet.,2012

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2. Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report;Open Medicine;2020-11-09

3. Evaluation of different b-values in DWI and 1H MRS for pancreatic cancer and pancreatitis: a rabbit model;Bioscience Reports;2019-11

4. Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate;Journal of Clinical Laboratory Analysis;2018-03-07

5. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017