Výsledky vyhledávání - "Kara A. Withrow"

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

Autor: William B. Dobyns, John W. Day, Kelly Chen, Steven A. Moore, Joline C. Dalton, Arti Pandya, Louanne Hudgins, Sanam Zarei, Kara A. Withrow, Himali Jayakody, Huy Nguyen, Katherine D. Mathews, Jean Teasley

Publikováno v: Journal of Neuropathology and Experimental Neurology

Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5c0fe919030cdfef803df3a69b6e516
https://doi.org/10.1093/jnen/nlaa062

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Impact of genetic advances and testing for hearing loss: Results from a national consumer survey

Autor: Kara A. Withrow, Arti Pandya, Virginia W. Norris, Kelly A. Tracy, Kathleen S. Arnos, Hermine H. Maes, Sarah K. Burton

Publikováno v: American Journal of Medical Genetics Part A. :1159-1168

Hearing loss is a common neuro-sensory deficit; nearly 50% of children with hearing loss have a genetic etiology. With the discovery of 40 genes and more than 100 loci involved in hearing loss, genetic testing is becoming more widely available. The i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fe82ba2f05568a8ebec5d2237c5766
https://doi.org/10.1002/ajmg.a.32800

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Provision of genetic services for hearing loss: results from a national survey and comparison to insights obtained from previous focus group discussions

Autor: Kathleen S. Arnos, Hermine H. Maes, Arti Pandya, Kara A. Withrow, Virginia W. Norris, Sarah K. Burton, Kelly A. Tracy

Publikováno v: Journal of genetic counseling. 18(6)

Hearing loss is a common sensory deficit and more than 50% of affected individuals have a genetic etiology. The discovery of 40 genes and more than 100 loci involved in hearing loss has made genetic testing for some of these genes widely available. G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6492fa56e1d8a8c80c0ebc64aa455193
https://pubmed.ncbi.nlm.nih.gov/19798556

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Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss

Autor: Kara A. Withrow, Andrea L. Kalfoglou, Arti Pandya, Kathleen S. Arnos, Sarah K. Burton

Publikováno v: Journal of genetic counseling. 17(3)

Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b2dbb29edc657b0515402e64e1b0fb3
https://pubmed.ncbi.nlm.nih.gov/18247107

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A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness

Autor: Kara A. Withrow, Arti Pandya, Sarah K. Burton, Kathleen S. Arnos, Andrea L. Kalfoglou

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 8(12)

Purpose: Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more widespread use of molecular tests to detect genetic forms of hearing loss. Efforts to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1bdf802f26ada5b3eb9a8ababf4f4a8
https://pubmed.ncbi.nlm.nih.gov/17172941

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