Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Laura S. Farach"'
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Akademický článek
Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin
Autor: Shelby L. Mills, Paige Roberts, Myla Ashfaq, Kathryn Leal, Hope Northrup, Deborah L. Brown, David Rodriguez‐Buritica, Laura S. Farach
Publikováno v: JIMD Reports, Vol 64, Iss 6, Pp 434-439 (2023)
Abstract Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein
Externí odkaz: https://doaj.org/article/161bc960bd1f443781250b65c400c99a
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2
Akademický článek
Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism
Autor: Elizabeth Langley, Laura S. Farach, Kate Mowrey
Publikováno v: Frontiers in Genetics, Vol 13 (2022)
Malan syndrome is an autosomal dominant disorder caused by pathogenic variants in NFIX with less than 100 cases reported thus far. NFIX is important for stem cell proliferation, quiescence, and differentiation during development and its protein plays
Externí odkaz: https://doaj.org/article/7db57b7c49ca46bcb3bd8f3520ebc309
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3
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent
Autor: Elizabeth Langley, Laura S. Farach, Mary K. Koenig, Hope Northrup, David F. Rodriguez‐Buritica, Kate Mowrey
Publikováno v: American Journal of Medical Genetics Part A. 188:1688-1692
NEXMIF pathogenic variants have been known to produce a wide spectrum of X-linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have been described with NEXMIF-related disorders. Herein, we
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b0275640a32ac05a7dd0d9e1ba16f98
https://doi.org/10.1002/ajmg.a.62686
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4
Massive macroglossia, a rare side effect of COVID-19: clinical, histologic, and genomic findings in COVID-19-positive versus COVID-19-negative patients
Autor: Victoria A. Mañón, David Chubb, Laura S. Farach, Rachid Karam, Mary C. Farach-Carson, Nadarajah Vigneswaran, Karan Saluja, Simon Young, Mark Wong, James C. Melville
Publikováno v: Oral and Maxillofacial Surgery
Purpose The primary purpose of this study is to identify if there is an underlying genetic predisposition for COVID-related macroglossia and if this susceptibility is higher among individuals of African heritage. Secondary objectives include determin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f371ee7841f4e7039f2d2f63899c5b3e
http://europepmc.org/articles/PMC8722658
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5
Assessing patient attitudes toward genetic testing for hereditary hematologic malignancy
Autor: Addison Q. Johnson, Sarah A. Bannon, Laura S. Farach, Samuel M. Hyde, S. Shahrukh Hashmi, Chelsea Wagner, Courtney D. DiNardo
Publikováno v: European journal of haematologyREFERENCES. 110(1)
Since 2003, more than 15 genes have been identified to predispose to hereditary hematologic malignancy (HHM). Although the yield of germline analysis for leukemia appears like that of solid tumors, genetic referrals in adults with leukemia remain und
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa960bf9cceff7990616aa7a59fd9b8
https://pubmed.ncbi.nlm.nih.gov/36209474
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6
Two new reported cases of 16q22.3q23.3 duplication syndrome highlight intrafamilial variability and potential sex expression differences within a rare duplication syndrome
Autor: Kathryn Gunther, Laura S. Farach, Kate Mowrey
Publikováno v: Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 3, Pp 1629-1633 (2021)
Two new cases of 16q22.3q23.3 Duplication syndrome demonstrate that phenotype can vary from severely affected to mild psychiatric concerns, even within the same family and identical duplications.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc1d1ef3a954c1d6bd1ef69fb3d5801
http://europepmc.org/articles/PMC7981733
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7
Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex
Autor: Laura S. Farach, Melissa A. Richard, Philip J. Lupo, Mustafa Sahin, Darcy A. Krueger, Joyce Y. Wu, Elizabeth M. Bebin, Kit Sing Au, Hope Northrup, M. Sahin, D. Krueger, M. Bebin, J.Y. Wu, H. Northrup, S. Warfield, J. Peters, B. Scherrer, M. Goyal, R. Filip-Dhima, K. Dies, S. Bruns, E. Hanson, N. Bing, B. Kent, S. O'Kelley, M.E. Williams, D. Pearson, G. Cutter, S. Roberds, D.S. Murray
Publikováno v: Pediatric Neurology. 113:46-50
Background Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important. Despite several identified risk factors, it rem
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be434680fd9c678d2f5c78b38015631a
https://doi.org/10.1016/j.pediatrneurol.2020.07.015
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9
The first reported case of Loeys‐Dietz syndrome in a patient with biallelic SMAD3 variants
Autor: Shaine A. Morris, Jacqueline T. Hecht, Laura S. Farach, Stephanie M Baskin, Autumn Vara
Publikováno v: American Journal of Medical Genetics Part A. 182:2755-2760
Loeys-Dietz syndrome (LDS), a connective tissue disorder characterized by its vascular, skeletal, craniofacial, and cutaneous manifestations is caused by mutations in one of six genes (TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, and TGFB3). Until recently,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4cf03324da2300ddbcd64b91d723107e
https://doi.org/10.1002/ajmg.a.61844
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10
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Autor: Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler
Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546
Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access) PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecula
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f3e30c4e22e927d1381e056b7dcbef
http://europepmc.org/articles/PMC7060121
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