American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

The dawn of consumer ‐directed testing
As the public's interest in genetics and genomics has increased, there has been corresponding and unprecedented growth in direct‐to‐consumer genetic testing (DTC‐GT). Although regulatory concerns have limited true DTC‐GT available without a physician order, the paradigm has shifted to a model of consumer‐directed genetic testing (CD‐GT) in which patients are researching testing options and requesting specific genetic testing from their health‐care providers. However, many nongenetics health‐care providers do not have the background, education, interest, or time to order and/or interpret typical clinical gen...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2017 Category: Genetics & Stem Cells Authors: Erica Ramos, Scott M. Weissman Tags: RESEARCH REVIEW Source Type: research

Cover Image, Volume 175C, Number 4, December 2017
The cover image, by Conny Van Ravenswaaij‐Arts and Donna M. Martin, is based on the Introduction New Insights and Advances in CHARGE Syndrome: Diagnosis, Etiologies, Treatments, and Research Discoveries, DOI: 10.1002/ajmg.c.31592. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 1, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 417-430, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 27, 2017 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 417-430, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 27, 2017 Category: Genetics & Stem Cells Source Type: research

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 397-406, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 24, 2017 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 397-406, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 24, 2017 Category: Genetics & Stem Cells Source Type: research

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 23, 2017 Category: Genetics & Stem Cells Source Type: research

Guidelines in CHARGE syndrome and the missing link: Cranial imaging
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 450-464, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 23, 2017 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 23, 2017 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 450-464, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 23, 2017 Category: Genetics & Stem Cells Source Type: research

Guidelines in CHARGE syndrome and the missing link: Cranial imaging
“CHARGE syndrome” is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and w...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 23, 2017 Category: Genetics & Stem Cells Authors: Christa M. de Geus, Rolien H. Free, Berit M. Verbist, Deborah A. Sival, Kim D. Blake, Linda C. Meiners, Conny M. A. van Ravenswaaij ‐Arts Tags: RESEARCH REVIEW Source Type: research

Immunodeficiency in CHARGE syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 516-523, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 21, 2017 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 516-523, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 21, 2017 Category: Genetics & Stem Cells Source Type: research

Reproductive endocrine phenotypes relating to CHD7 mutations in humans
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 507-515, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 20, 2017 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 507-515, December 2017. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 20, 2017 Category: Genetics & Stem Cells Source Type: research