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.

Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 407-416, 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 - October 31, 2017 Category: Genetics & Stem Cells Source Type: research

Clinical and molecular effects of CHD7 in the heart
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 487-495, 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 - October 31, 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 407-416, 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 - October 31, 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 487-495, 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 - October 31, 2017 Category: Genetics & Stem Cells Source Type: research

Clinical and molecular effects of CHD7 in the heart
Heart defects caused by loss‐of‐function mutations in CHD7 are a frequent cause of morbidity and mortality in CHARGE syndrome. Here we review the clinical and molecular aspects of CHD7 that are related to the cardiovascular manifestations of the syndrome. The types of heart defects found in patients with CHD7 mutations are variable, with an overrepresentation of atrioventricular septal defect and outflow tract defect including aortic arch anomalies compared to nonsyndromic heart defects. Chd7 haploinsufficiency in mouse is a good model for studying the heart effects seen in CHARGE syndrome, and mouse models reveal a ro...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 31, 2017 Category: Genetics & Stem Cells Authors: Nicole Corsten ‐Janssen, Peter J. Scambler Tags: RESEARCH REVIEW Source Type: research

Behavior in CHARGE syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 431-438, 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 - October 30, 2017 Category: Genetics & Stem Cells Source Type: research

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 439-449, 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 - October 30, 2017 Category: Genetics & Stem Cells Source Type: research

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head ‐to‐toe
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 496-506, 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 - October 30, 2017 Category: Genetics & Stem Cells Source Type: research

CHARGEd with neural crest defects
American Journal of Medical Genetics Part C: Seminars in Medical Genetics,Volume 175, Issue 4, Page 478-486, 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 - October 30, 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 431-438, 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 - October 30, 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 439-449, 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 - October 30, 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 496-506, 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 - October 30, 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 478-486, 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 - October 30, 2017 Category: Genetics & Stem Cells Source Type: research

CHARGEd with neural crest defects
Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest‐derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA‐binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss‐of‐function dat...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 30, 2017 Category: Genetics & Stem Cells Authors: Silke Pauli, Ruchi Bajpai, Annette Borchers Tags: RESEARCH REVIEW Source Type: research

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head ‐to‐toe
CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria. Over 90% of individuals experience feeding and gastrointestinal dysf...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 30, 2017 Category: Genetics & Stem Cells Authors: Kim D. Blake, Alexandra S. Hudson Tags: RESEARCH REVIEW Source Type: research