Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype-Reference-Cited by-同舟云学术

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype

Published:2005-07 Issue:3 Volume:48 Page:319-327
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Vermeesch Joris Robert,Melotte Cindy,Salden Ivo,Riegel Mariluce,Trifnov Vladimir,Polityko Anna,Rumyantseva Natalia,Naumchik Irina,Starke Heike,Matthijs Gert,Schinzel Albert,Fryns Jean-Pierre,Liehr Thomas

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference17 articles.

1. Neocentromeres: role in human disease, evolution, and centromere study;Amor;Am. J. Hum. Genet.,2002

2. Post-zygotic origin of isochromosome 12p;de Ravel;Prenat. Diagn.,2004

3. Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA;Depinet;Hum. Mol. Genet.,1997

4. A comprehensive genetic map of the human genome based on 5264 microsatellites;Dib;Nature,1996

5. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister–Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker;Dufke;Eur. J. Hum. Genet.,2001

Cited by 21 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. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children;Orphanet Journal of Rare Diseases;2024-03-08

2. PALLISTER–KILLIAN SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

3. Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome;American Journal of Medical Genetics Part A;2017-05-10

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

5. Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis;Taiwanese Journal of Obstetrics and Gynecology;2016-12