Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter-Reference-Cited by-同舟云学术

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

Published:2011-07-08 Issue:8 Volume:155 Page:1833-1847
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Iwanowski Piotr S.,Panasiuk Barbara,Van Buggenhout Griet,Murdolo Marina,Myśliwiec Marta,Maas Nicole M.C.,Lattante Serena,Korniszewski Lech,Posmyk Renata,Pilch Jacek,Zajączek Stanislaw,Fryns Jean-Pierre,Zollino Marcella,Midro Alina T.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34005/fullpdf

Reference36 articles.

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3. Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestation;Delobel;Am J Med Genet,1998

4. Duplication and deletion 11q23→q24 recombinants in two offspring of an intrachromosomal insertion (“shift”) carrier;Forsythe;Henry Ford Hosp Med J,1988

5. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation;Giglio;Am J Hum Genet,2002

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1. Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia;Journal of Translational Medicine;2020-06-17

2. Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations;Molecular Cytogenetics;2017-08-04

3. Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy;Cytogenetic and Genome Research;2016

4. Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome;American Journal of Medical Genetics Part A;2013-12-19