Three new cases with a supernumerary ring chromosome 1-Reference-Cited by-同舟云学术

Three new cases with a supernumerary ring chromosome 1

Published:2005-10 Issue:4 Volume:14 Page:169-175
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:Clinical Dysmorphology

Author:

Rodr??guez Laura,Starke Heike,Guardia Nieves Mart??nez,T??nnies Holger,Neitzel Heidemarie,Kozlowski Peter,Mazauric M.-L.,Heller Anita,Grondona Fermina L??pez,Mansilla Elena,Santos Mu??oz M. Jos??,Liehr Thomas,Mart??nez-Fr??as Maria Luisa

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference35 articles.

1. Detailed characterization of 12 supernumerary ring chromosomes using micro‐FISH and search for uniparental disomy

2. Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 ? q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay

3. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

4. Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescencein situ hybridization

5. Forty four probands with an additional ?marker? chromosome

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mosaic small supernumerary marker chromosome 1 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review;Gene;2013-10

2. Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes;Molecular Cytogenetics;2013

3. Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report;European Journal of Medical Genetics;2011-03

4. Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation;European Journal of Medical Genetics;2007-03