Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome-Reference-Cited by-同舟云学术

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Published:2017-06-01 Issue:8 Volume:173 Page:2081-2087
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lévy Jonathan¹²^ORCID,Coussement Aurélie³,Dupont Céline¹,Guimiot Fabien²⁴,Baumann Clarisse¹,Viot Géraldine³,Passemard Sandrine¹²,Capri Yline¹,Drunat Séverine¹,Verloes Alain¹,Pipiras Eva¹²⁵,Benzacken Brigitte¹²⁵,Dupont Jean-Michel³,Tabet Anne-Claude¹⁶

Affiliation:

1. Genetics Department; AP-HP, Robert-Debré University Hospital; Paris France

2. INSERM UMR1141, Paris Diderot University; AP-HP, Robert-Debré Hospital; Paris France

3. Cytogenetics Laboratory, APHP, Cochin Hospital; Paris Descartes University; Paris France

4. Department of Developmental Biology, APHP Robert-Debré hospital; Paris Diderot University, Sorbonne Paris Cité; Paris France

5. University Hospital Jean-Verdier, Department of Cytogenetic; Embryology and Histology; Bondy France

6. Neuroscience Department, Génétique Humaine et Fonction Cognitive Unit; Pasteur Institute; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis;Bagheri;JCI Insight,2016

2. Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A;Balci;European Journal of Medical Genetics,2015

3. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations;Basak;Journal of Clinical Investigation,2015

4. Developmentally regulated activity of CRM1/XPO1 during early Xenopus embryogenesis;Callanan;Journal of Cell Science,2000

5. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15;Chabchoub;Journal of Medical Genetics,2008

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