Zobrazeno 1 - 10
of 18
pro vyhledávání: '"M. Adela Mansilla"'
Autor:
Meenakshi Sambharia, Margaret E. Freese, Francisco Donato, Girish Bathla, Ibrahim M.M. Abukhiran, Maisie I. Dantuma, M. Adela Mansilla, Christie P. Thomas
Publikováno v:
Nephron. :1-9
The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome. COACH syndrome belongs to the spectrum of Jouber
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a25f30dd35c6939354b1103a3b71b933
https://doi.org/10.1159/000527991
https://doi.org/10.1159/000527991
Autor:
Meenakshi Sambharia, Jyothsna Gattineni, Lama Noureddine, M. Adela Mansilla, Christie P. Thomas
Publikováno v:
Journal of Nephrology. 35:1737-1742
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1181d34d81917ec9d27b187f7f88ae3b
https://doi.org/10.1007/s40620-021-01217-5
https://doi.org/10.1007/s40620-021-01217-5
Autor:
Masaaki Yamada, Richard J.H. Smith, Prerna Rastogi, Sarat Kuppachi, M. Adela Mansilla, Dilek Ince, Abdullah Thayyil, Christie P. Thomas
Publikováno v:
Transplantation Proceedings
Kidney injury is a well-known complication in people with coronavirus disease 2019 (COVID-19). In kidney transplant recipients with COVID-19, presentation with nephrotic syndrome has not been well described. We report on a 49-year-old African America
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71df43b88a47e90982bb67e7a8ff97d6
https://doi.org/10.1016/j.transproceed.2020.08.012
https://doi.org/10.1016/j.transproceed.2020.08.012
Autor:
Richard J.H. Smith, M. Adela Mansilla, Anne E. Kwitek, Mycah J Kimble, Christie P. Thomas, Colleen A. Campbell, Carla Nishimura, Margaret E. Freese, Ramakrishna Sompallae
Publikováno v:
Nephrology Dialysis Transplantation
BackgroundThe clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af2c67b0e655d30b89dda624e604517
https://doi.org/10.1093/ndt/gfz173
https://doi.org/10.1093/ndt/gfz173
Autor:
Adam P Ross, M Adela Mansilla, Youngshik Choe, Simon Helminski, Richard Sturm, Roy L Maute, Scott R May, Kamil K Hozyasz, Piotr Wójcicki, Adrianna Mostowska, Beth Davidson, Iannis E Adamopoulos, Samuel J Pleasure, Jeffrey C Murray, Konstantinos S Zarbalis
Publikováno v:
PLoS ONE, Vol 8, Iss 7, p e69333 (2013)
Orofacial clefts are among the most common birth defects and result in an improper formation of the mouth or the roof of the mouth. Monosomy of the distal aspect of human chromosome 6p has been recognized as causative in congenital malformations affe
Externí odkaz:
https://doaj.org/article/3455b107f3fe46c88b568ef09eda1336
Autor:
Alissa M. Hulstrand, Jeffrey C. Murray, J. Robert Manak, Robert A. Cornell, Lisa A. Lansdon, Douglas W. Houston, Abby Long, Rachel B. Brouillette, M. Adela Mansilla, Aline Petrin, Benjamin W. Darbro, Jennifer Standley
Publikováno v:
Genetics. 208:283-296
Orofacial clefts are one of the most common birth defects, affecting 1–2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants (CNVs) tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8713d29ba88b897f6f94c1fd7e6969f0
https://doi.org/10.1534/genetics.117.300535
https://doi.org/10.1534/genetics.117.300535
Autor:
Sara O. Mason, Colleen A. Campbell, Diana L. Kolbe, Charuta Joshi, Richard J.H. Smith, M. Adela Mansilla
Publikováno v:
Brain and Development. 38:848-851
We describe the presentation and workup of two brothers with early-onset epileptic encephalopathy who became seizure-free on a ketogenic diet. Extensive testing culminated in whole exome sequencing, which led to the diagnosis of phosphatidyl inositol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd1460f8a9ec1eabbda69f36165c20b
https://doi.org/10.1016/j.braindev.2016.04.004
https://doi.org/10.1016/j.braindev.2016.04.004
Autor:
M. Adela Mansilla, Sara O. Mason, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Richard J.H. Smith
Publikováno v:
BioMed Research International, Vol 2016 (2016)
BioMed Research International
BioMed Research International
Whole exome sequencing (WES) has revolutionized the way we think about and diagnose epileptic encephalopathies. Multiple recent review articles discuss the benefits of WES and suggest various algorithms to follow for determining the etiology of epile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8a1c91fc3a9079214a178ac7af0483
https://doi.org/10.1155/2016/6421039
https://doi.org/10.1155/2016/6421039
Autor:
Lisa A, Lansdon, Benjamin W, Darbro, Aline L, Petrin, Alissa M, Hulstrand, Jennifer M, Standley, Rachel B, Brouillette, Abby, Long, M Adela, Mansilla, Robert A, Cornell, Jeffrey C, Murray, Douglas W, Houston, J Robert, Manak
Publikováno v:
Genetics. 208(1)
Orofacial clefts are one of the most common birth defects, affecting 1–2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants (CNVs) tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97a35b6d3eb9240a41c8b47227279310
https://pubmed.ncbi.nlm.nih.gov/29162626
https://pubmed.ncbi.nlm.nih.gov/29162626
Autor:
Renato Menezes, Sandra R. Imoehl, Manika Govil, Jacqueline T. Hecht, Renata F. Fonseca, Stephen Tropp, Brett T. Chiquet, Lian Ma, Iêda M. Orioli, Eduardo E. Castilla, Mary L. Marazita, Andrew E. Czeizel, Jeffrey C. Murray, M. Adela Mansilla, Alexandre R. Vieira, Margaret E. Cooper, José Mauro Granjeiro, Ariadne Letra
Publikováno v:
The Cleft Palate-Craniofacial Journal. 48:363-370
Objective To assess the association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and single-nucleotide polymorphisms (SNPs) within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). Design Four S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c41e61edb12f3a22519dcaa9f7beaa
https://doi.org/10.1597/09-227
https://doi.org/10.1597/09-227