The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients-Reference-Cited by-同舟云学术

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

Published:2008 Issue:7 Volume:146A Page:917-924
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Doco-Fenzy Martine,Holder-Espinasse Muriel,Bieth Eric,Magdelaine Corinne,Vincent Marie-Claire,Khoury Maroun,Andrieux Joris,Zhang Feng,Lupski James R.,Klink Rabih,Schneider Anouck,Goze-Martineau Odile,Cuisset Jean-Marie,Vallee Louis,Manouvrier-Hanu Sylvie,Gaillard Dominique,de Martinville Bérengère

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis

2. A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

3. Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

4. Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

5. De novo partial duplication of 17p associated with Charcot-Marie-Tooth disease type 1A

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