Výsledky vyhledávání - "Tyler D. Graves"

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Publikováno v: Genes
Volume 11
Issue 11
Genes, Vol 11, Iss 1329, p 1329 (2020)

The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0eab6ce593711c04f4e2bc4a83a9040
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-219293

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The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

Autor: Kyungsoo Ha, Hyung Goo Kim, Cheol-Hee Kim, Tyler D. Graves, Yiping Shen

Publikováno v: Molecular Cytogenetics

Background 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, card

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6c46f07613b0fe831466c541659efa9
https://doi.org/10.1186/s13039-016-0286-0

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A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Autor: Tyler D. Graves, Julie R. Jones, Il-Keun Kong, Yiping Shen, Jonathan D J Labonne, Lawrence C. Layman, Hyung Goo Kim

Publikováno v: BMC Neurology

Background Among the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. Using an atypical microdeletion, which does not encompass PLP1, we implicate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d3a70fb8aebdc3922b2b6ef39271bc9

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