Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Linda M, Randolph"'
Autor:
Miao Sun, Cornelia K. Kaminsky, Philip Deppe, Mai-Britt Ilse, Frédéric M. Vaz, Barbara Plecko, Torben Lübke, Linda M. Randolph
Publikováno v:
Genes and Diseases, Vol 11, Iss 3, Pp 101025- (2024)
Externí odkaz:
https://doaj.org/article/360deb19642148408ae569c301ad2850
Autor:
Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients. In this
Externí odkaz:
https://doaj.org/article/c271591af19847f898593fcb0772d0d8
Autor:
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman
Publikováno v:
Wellcome Open Research, Vol 3 (2018)
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants.
Externí odkaz:
https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ec
Publikováno v:
Genetics in Medicine. 23:1854-1863
To determine the value of early exome sequencing (eES) relative to the current typical care (TC) in the diagnosis of newborns with suspected severe mitochondrial disorders (MitD). We used a decision tree–Markov hybrid to model neonatal intensive ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1dad8558da808662ad0b67ce9ca69e55
https://doi.org/10.1038/s41436-021-01210-0
https://doi.org/10.1038/s41436-021-01210-0
Autor:
Kenneth W. Martin, Paula Garcia, Howard Rosenfeld, Dawn Phillips, Paul Harmatz, Linda M. Randolph, JoAnn Johnson
Publikováno v:
Molecular Genetics and Metabolism. 133:100-108
Objective Long-term outcomes of patients with mucopolysaccharidosis (MPS) VI treated with galsulfase enzyme replacement therapy (ERT) since infancy were evaluated. Methods The study was a multicenter, prospective evaluation using data from infants wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd9bfcb431ebdbd1b2f84ca3ff405b9
https://doi.org/10.1016/j.ymgme.2021.03.006
https://doi.org/10.1016/j.ymgme.2021.03.006
Publikováno v:
SN Comprehensive Clinical Medicine. 2:1646-1660
Inborn errors of metabolism (IEM) are individually rare but collectively common disorders, occurring in 1:800 to 1:1000 births. There are more than 1000 known inherited disorders characterized by disruption of metabolic pathways which may present wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b69ceee637cecea6c9f6baffc81e1d0
https://doi.org/10.1007/s42399-020-00403-z
https://doi.org/10.1007/s42399-020-00403-z
Autor:
Jennifer M. Kalish, N. Scott Adzick, Anita E. Beck, Emilie Lalonde, Arupa Ganguly, Laura K. Conlin, Sarah E Sheppard, Tricia R. Bhatti, Linda M. Randolph, Lisa J. States, Brian J Sajorda, Evan R Hathaway, Kelly A. Duffy, Katherine Lord, Rebecca L. Linn, Jianling Ji, Diva D. De León
Publikováno v:
Genet Med
PURPOSE: Beckwith–Wiedemann syndrome (BWS) is a human genomic imprinting disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects, congenital hyperinsulinism, and predisposition to embryonal tumors. One of the molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9fcf89a0e9631dd65f5a7bd168140c
https://doi.org/10.1038/s41436-019-0551-9
https://doi.org/10.1038/s41436-019-0551-9
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)
To determine the value of early exome sequencing (eES) relative to the current typical care (TC) in the diagnosis of newborns with suspected severe mitochondrial disorders (MitD).We used a decision tree-Markov hybrid to model neonatal intensive care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::028faa1127515052d7ed5ef3104111ce
https://pubmed.ncbi.nlm.nih.gov/34040192
https://pubmed.ncbi.nlm.nih.gov/34040192
Autor:
Mimi S. Kim, Veeraya K Tanawattanacharoen, Hengameh Mirzaalian, Xiao Guo, Linda M. Randolph, Heather M. Ross, Wael AbdAlmageed, Mitchell E. Geffner
Publikováno v:
JAMA Network Open
This cross-sectional study evaluates the use of machine learning for prediction of congenital adrenal hyperplasia based on distinct facial morphologic features.
Key Points Question Do patients with congenital adrenal hyperplasia (CAH) have disti
Key Points Question Do patients with congenital adrenal hyperplasia (CAH) have disti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e6cdde707b280ee9f03fe806c30865f
https://pubmed.ncbi.nlm.nih.gov/33206189
https://pubmed.ncbi.nlm.nih.gov/33206189
Autor:
Mitchell E. Geffner, Wael AbdAlmageed, Mimi S. Kim, Linda M. Randolph, Veeraya K Tanawattanacharoen, Xiao Guo, Hengameh Mirzaalian, Heather M. Ross
Publikováno v:
Journal of the Endocrine Society
Purpose: Classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency affects 1:15,000 newborns and involves adrenal insufficiency and androgen excess. These hormone abnormalities are evident as early as 7 weeks’ gestation and pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2ab43916b3c8e40fdf46cf92cd5045
http://europepmc.org/articles/PMC7208108
http://europepmc.org/articles/PMC7208108