Distal 22q11.2 microduplication encompassing theBCRgene-Reference-Cited by-同舟云学术

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Distal 22q11.2 microduplication encompassing theBCRgene

Published:2008-12-01 Issue:23 Volume:146A Page:3075-3081
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Descartes Maria,Franklin Judy,de Ståhl Teresita Diaz,Piotrowski Arkadiusz,Bruder Carl E.G.,Dumanski Jan P.,Carroll Andrew J.,Mikhail Fady M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Mutational mechanisms of Williams-Beuren syndrome deletions;Bayes;Am J Hum Genet,2003

2. 22q11.2 distal deletion: A recurrent genomic disorder distinct from digeorge syndrome and velocardiofacial syndrome;Ben-Shachar;Am J Hum Genet,2008

3. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2;Bi;Am J Hum Genet,2003

4. A common molecular basis for rearrangement disorders on chromosome 22q11;Edelmann;Hum Mol Genet,1999

5. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients;Ensenauer;Am J Hum Genet,2003

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1. Contiguous gene syndrome;Cases in Laboratory Genetics and Genomics (LGG) Practice;2023

2. Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience;American Journal of Medical Genetics Part A;2019-09-03

3. Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations;International Journal of Neuropsychopharmacology;2019-05-28

4. 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring;Clinical Case Reports;2017-02-11

5. Distal 22q11.2 Microduplication;Child Neurology Open;2017-01-01

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