10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies-Reference-Cited by-同舟云学术

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10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

Published:2015-06-26 Issue:11 Volume:167 Page:2707-2713
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Choucair Nancy¹²³,Abou Ghoch Joelle¹,Fawaz Ali⁴,Mégarbané André¹⁵,Chouery Eliane¹

Affiliation:

1. Unité de Génétique Médicale et Laboratoire Associé INSERM à l'Unité UMR_S 910; Faculté de Médecine; Université Saint-Joseph; Beirut Lebanon

2. Faculté de Médecine de la Timone; Aix-Marseille Université; Marseille France

3. Institut National de la Santé et de la Recherche Médicale; UMR_S910; Marseille France

4. Neuropediatrics Department; Lebanese University; Beirut Lebanon

5. Institut Jérôme Lejeune; Paris France

Funder

Lebanese National Council for Scientific Research

Agence Universitaire de la Francophonie

USJ Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37211/fullpdf

Reference24 articles.

1. Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract;Chang;Pediatr Neonatol,2013

2. Newborn with prenatally diagnosed choroidal fissure cyst and panhypopituitarism and review of the literature;Chitkara;Am J Perinatol Rep,2011

3. A subterminal deletion of the long arm of chromosome 10: A clinical report and review;Courtens;Am J Med Genet Part A,2006

4. Chromosome r(10)(p15.3q26.12) in a newborn child: Case report;Gunnarsson;Mol Cytogenet,2009

5. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes;Hajihosseini;Proc Natl Acad Sci USA,2001

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1. Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients;Frontiers in Pediatrics;2023-03-03

2. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability;European Journal of Human Genetics;2021-08-20

3. Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review;Molecular Cytogenetics;2021-07-13

4. Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects;Taiwanese Journal of Obstetrics and Gynecology;2020-01

5. Exploring the underlying biology of intrinsic cardiorespiratory fitness through integrative analysis of genomic variants and muscle gene expression profiling;Journal of Applied Physiology;2019-05-01

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