GPSM2and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America-Reference-Cited by-同舟云学术

GPSM2and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America

Published:2013-03-13 Issue:5 Volume:161 Page:973-976
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Almomani Rowida¹,Sun Yu¹,Aten Emmelien¹,Hilhorst-Hofstee Yvonne¹,Peeters-Scholte Cacha M.P.C.D.²,van Haeringen Arie¹,Hendriks Yvonne M.C.³,den Dunnen Johan T.,Breuning Martijn H.¹,Kriek Marjolein¹,Santen Gijs W.E.¹

Affiliation:

1. Center for Human and Clinical Genetics; Leiden University Medical Center; Leiden; The Netherlands

2. Department of Pediatric Neurology; Leiden University Medical Center; Leiden; The Netherlands

3. Department of Clinical Genetics; VU University Medical Center; Amsterdam; The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35808/fullpdf

Reference16 articles.

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3. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome;Doherty;Am J Hum Genet,2012

4. A mammalian partner of inscrutable binds NuMA and regulates mitotic spindle organization;Du;Nat Cell Biol,2001

5. Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters;Hendriks;Am J Med Genet,1999

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1. Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations;Journal of Child Neurology;2020-10-04

2. Localization of GPSM2 in the Nucleus of Invasive Breast Cancer Cells Indicates a Poor Prognosis;Frontiers in Oncology;2020-03-03

G-protein-signaling modulator 2 expression and role in a CD133⁺ pancreatic cancer stem cell subset

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4. Chudley–McCullough Syndrome;Journal of Clinical Imaging Science;2018-11-15

5. With expanded carrier screening, founder populations run the risk of being overlooked;Journal of Community Genetics;2017-05-29