Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Sara M Sarasua"'
Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment.
Autor:
Catherine A Ziats, Luke P Grosvenor, Sara M Sarasua, Audrey E Thurm, Susan E Swedo, Ahmed Mahfouz, Owen M Rennert, Mark N Ziats
Publikováno v:
PLoS ONE, Vol 14, Iss 3, p e0213921 (2019)
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. SH
Externí odkaz:
https://doaj.org/article/1bde7c760a064fb3a1eae980e5ebd04f
Autor:
Donna Schaare, Kendra Allison, Kara Skorge, Pangkong Fox, Laina Lusk, Sara M. Sarasua, Ingo Helbig, Luigi Boccuto
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionCACNA1A-related Hemiplegic Migraine (HM) is a rare neurological disorder distinguished by paroxysmal episodes of hemiparesis/hemiplegia with and without headache. Clinical features have been widely characterized, yet the impacts of the pa
Externí odkaz:
https://doaj.org/article/82917b19e876457ca4a512a089e9799f
Publikováno v:
Journal of Eating Disorders, Vol 12, Iss 1, Pp 1-32 (2024)
Abstract Background Anorexia nervosa has one of the highest mortality rates of all mental illnesses. For those who survive, less than 70% fully recover, with many going on to develop a more severe and enduring phenotype. Research now suggests that ge
Externí odkaz:
https://doaj.org/article/66aa3a3d82564ab1bfb6748a18cb39e4
Autor:
Sunny Chen, Sara M. Sarasua, Nicole J. Davis, Jane M. DeLuca, Luigi Boccuto, Stephen M. Thielke, Chang-En Yu
Publikováno v:
BMC Geriatrics, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Introduction Healthy aging relies on mitochondrial functioning because this organelle provides energy and diminishes oxidative stress. Single nucleotide polymorphisms (SNPs) in TOMM40, a critical gene that produces the outer membrane protein
Externí odkaz:
https://doaj.org/article/a8377a47fb2247ff82b82c254a2a3181
Autor:
Jessica A. Cooley Coleman, Sara M. Sarasua, Hannah Warren Moore, Luigi Boccuto, Christopher W. Cowan, Steven A. Skinner, Jane M. DeLuca
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Introduction MEF2C‐related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C‐related disorders across 43
Externí odkaz:
https://doaj.org/article/846519327b42404aaec70ebde4ce1f10
Autor:
Sara S. Cathey, Sara M. Sarasua, Richard Simensen, Katie Pietris, Gordon Kimbrell, David Sillence, Callum Wilson, Lucia Horowitz
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 44-49 (2019)
Abstract Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited informatio
Externí odkaz:
https://doaj.org/article/0e3392e49109460c999b6708901dff09
Publikováno v:
Genetic Testing and Molecular Biomarkers. 27:172-182
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::691cd6a2ff50f75f8576b851d8f468c5
https://doi.org/10.1089/gtmb.2022.0086
https://doi.org/10.1089/gtmb.2022.0086
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec330c7abef4d5b4ccd40736a0be9617
https://doi.org/10.1111/cge.14364
https://doi.org/10.1111/cge.14364
Autor:
Bridgette A. Moffitt, Lindsay M. Oberman, Laura Beamer, Sujata Srikanth, Lavanya Jain, Lauren Cascio, Kelly Jones, Rini Pauly, Melanie May, Cindy Skinner, Caroline Buchanan, Barbara R. DuPont, Walter E. Kaufmann, Kathleen Valentine, Linda D. Ward, Diana Ivankovic, R. Curtis Rogers, Katy Phelan, Sara M. Sarasua, Luigi Boccuto
Publikováno v:
Clinical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd1ab43bc1805fffe70549655175149f
https://doi.org/10.1111/cge.14361
https://doi.org/10.1111/cge.14361
Autor:
Sara M. Sarasua, Jane M. DeLuca, Curtis Rogers, Katy Phelan, Lior Rennert, Kara E. Powder, Katherine Weisensee, Luigi Boccuto
Publikováno v:
Genes
Volume 14
Issue 3
Pages: 540
Volume 14
Issue 3
Pages: 540
Phelan–McDermid syndrome (PMS) is a multisystem disorder that is associated with deletions of the 22q13 genomic region or pathogenic variants in the SHANK3 gene. Notable features include developmental issues, absent or delayed speech, neonatal hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70663bb11094ba096951ace0388edcae