Prenatal detection of 5q14.3 duplication includingMEF2Cand brain phenotype-Reference-Cited by-同舟云学术

Prenatal detection of 5q14.3 duplication includingMEF2Cand brain phenotype

Published:2016-02-10 Issue:5 Volume:170 Page:1352-1357
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cesaretti Claudia¹,Spaccini Luigina²,Righini Andrea³,Parazzini Cecilia³,Conte Giorgio³⁴,Crosti Francesca⁵,Redaelli Serena⁶,Bulfamante Gaetano⁷,Avagliano Laura⁷,Rustico Mariangela²

Affiliation:

1. Medical Genetics Unit; Fondazione I.R.C.C.S. Ca' Granda; Ospedale Maggiore Policlinico; Milan Italy

2. Fetal Therapy Unit; Department of Obstetrics and Gynaecology; Children's Hospital V. Buzzi; Milan Italy

3. Department of Radiology and Neuroradiology; Children's Hospital V. Buzzi; Milan Italy

4. Department of Health Sciences; Specialization School of Radiology; University of Milan; Milan Italy

5. Medical Genetics Lab, Pathology Unit; San Gerardo Hospital; Monza Italy

6. Department of Surgery and Traslational Medicine; University of Milano-Bicocca; Monza Italy

7. Department of Health Sciences; San Paolo Hospital Medical School; University of Milan; Milan Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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3. Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation;Forrest;PLoS ONE,2013

4. Microdeletion 5q14.3 and anomalies of brain development;Hotz;Am J Med Genet Part A,2013

5. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations;Le Meur;J Med Genet,2010

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