Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Lynda Holloway"'
Autor:
Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, Lynda Holloway, Cindy Skinner, Anna Hurst, Michael Tiemeyer, Richard Steet
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 138-145 (2023)
Abstract GM3 synthase deficiency (GM3SD) is caused by biallelic variants in ST3GAL5. The ganglioside GM3, enriched in neuronal tissues, is a component of lipid rafts and regulates numerous signaling pathways. Affected individuals with GM3SD exhibit g
Externí odkaz:
https://doaj.org/article/204c7fa285a649e18e49b3a15749debc
Autor:
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dyst
Externí odkaz:
https://doaj.org/article/dbd914df64284d34aa13e99f91cafaa9
Autor:
Laxmi Kirola, Joy Norris, Lynda Holloway, Tracy Brandt, Kate Kaercher, Catherine A. Ziats, Kirsty McWalter, Marilyn C. Jones, Cindy Skinner, Charles Schwartz
Publikováno v:
Gene Reports. 27:101590
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::537272a9c675fbd6b0e0836f6ae56f04
https://doi.org/10.1016/j.genrep.2022.101590
https://doi.org/10.1016/j.genrep.2022.101590
Autor:
Lynda Holloway, Richard Steet, Tonya Moss, Steve A. Skinner, Seok-Ho Yu, Addison Neighbors, Russell P. Saneto, Fran Annese
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac1a0bbe327f661f5bac002d9d8c8b4
https://doi.org/10.1002/mgg3.1121
https://doi.org/10.1002/mgg3.1121
Autor:
Ty C. Lynnes, Julie R. Jones, Brett H. Graham, Charles E. Schwartz, Amy M. Breman, David D. Weaver, Alyce Belonis, Victoria M. Pratt, Lynda Holloway, Theodore E. Wilson, Valerie J. Castelluccio, Katherine Sapp, Francesco Vetrini
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 179(12)
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder characterized by moderate to severe intellectual disability, hypotonia, craniofacial features, tapering digits, short stature, and skeletal deformities. Using whole exome sequencing and high-res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de557e28fc62bdca0cd2ac61c3bcec8
https://pubmed.ncbi.nlm.nih.gov/31512387
https://pubmed.ncbi.nlm.nih.gov/31512387
Autor:
Giovanni Neri, Stephen G. Kahler, Katharina Steindl, Jung Hwa Choi, Jennifer Mueller, Peter J. van der Spek, Sigrid M.A. Swagemakers, Kyu Seok Hwang, Charles E. Schwartz, Patrick S. Tarpey, Jeong Im Ryu, Hyun Taek Kim, Cheol-Hee Kim, Melanie May, Richard I. Dorsky, Shannon K. Stefl, Pietro Chiurazzi, Emil Alexov, Judith H. Miles, Lynda Holloway, Cindy Skinner, Roger E. Stevenson, Tao Wang, Tejasvi Niranjan, Charles A. Williams
Publikováno v:
Human Molecular Genetics
Human molecular genetics
Human Molecular Genetics, 24(17), 4848-4861. Oxford University Press
Human molecular genetics
Human Molecular Genetics, 24(17), 4848-4861. Oxford University Press
Miles–Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hyperextendable MCP joints, ro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ac7a6cccb70eee2d482b6c402715cc
https://pure.eur.nl/en/publications/4e85a164-a99e-4e27-a8c5-104050021dce
https://pure.eur.nl/en/publications/4e85a164-a99e-4e27-a8c5-104050021dce
Autor:
Charles E. Schwartz, Melissa Lah, Tejasvi Niranjan, Lynda Holloway, Tao Wang, Sujata Srikanth, David D. Weaver
Publikováno v:
American journal of medical genetics : part A
We further evaluated a previously reported family with an apparently undescribed X‐linked syndrome involving joint contractures, keloids, an increased optic cup‐to‐disc ratio, and renal stones to elucidate the genetic cause. To do this, we obta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9638d41a6d6bd9c6bfcedf6174e82014
https://pubmed.ncbi.nlm.nih.gov/26804200
https://pubmed.ncbi.nlm.nih.gov/26804200
Autor:
Fatima, Abidi, Lynda, Holloway, Cynthia A, Moore, David D, Weaver, Richard J, Simensen, Roger E, Stevenson, R Curtis, Rogers, Charles E, Schwartz
Publikováno v:
Human genetics. 125(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1b282b7b0ca227251faaadc51ad5b879
https://pubmed.ncbi.nlm.nih.gov/19320024
https://pubmed.ncbi.nlm.nih.gov/19320024