Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Claudia Gonzaga-Jauregui"'
Autor:
William A. Gahl, Elizabeth A. Burke, Yajun Tang, Melissa G. Dominguez, Ron A. Deckelbaum, May Christine V. Malicdan, Michael Podgorski, Brian Zambrowicz, James R. Lupski, Christopher J. Scheonherr, Wendy K. Chung, Dennis Delgado, Aris N. Economides, John Dronzek, Nicholas W. Gale, Richard A. Gibbs, Prasad Sarangapani, Samer Nuwayhid, Matthew C. Franklin, Harikiran Nistala, Shek Man Chim, Claudia Gonzaga-Jauregui, Saathyaki Rajamani, Ender Karaca, Marjorie Withers
Publikováno v:
Human Molecular Genetics
Neurodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability.
Autor:
Nehal Gosalia, Cristopher V. Van Hout, John D. Overton, Omri Gottesman, Ryan Murchie, Aris Baras, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Gabriel Welch, Aleixo M. Muise, Jeffrey G. Reid, Julie E. Horowitz, Karoline Fiedler, Neil Warner, Anne M. Griffiths, Alejandra King, Eileen Crowley, Jeffrey Staples
Publikováno v:
Paediatrics Publications
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD represen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21923c551e5578f0d9e38862eb408d7b
https://ir.lib.uwo.ca/context/paedpub/article/2012/viewcontent/s41598_021_84938_8.pdf
https://ir.lib.uwo.ca/context/paedpub/article/2012/viewcontent/s41598_021_84938_8.pdf
Autor:
Dermot P.B. McGovern, Iram Siddiqui, Claudia Gonzaga-Jauregui, Aleixo M. Muise, Jamie Hu, Michael Brudno, Peter C Church, Scott B. Snapper, Dalin Li, Shiqi Zhang, Andrew D. Paterson, Jie Pan, Daniel Kotlarz, Anne M. Griffiths, Sam Khalouei, Dana M. Bronte-Tinkew, Karoline Fiedler, Chaim M. Roifman, Holm H. Uhlig, Thomas D. Walters, Eileen Crowley, Christoph Klein, Justin Foong, David Tian, Julie E. Horowitz, Abdul Elkadri, Donna A. Wall, Andrei L. Turinsky, Neil Warner, Julia Upton, Arun K. Ramani
Publikováno v:
Gastroenterology
Paediatrics Publications
Paediatrics Publications
Background & Aims: A proportion of infants and young children with inflammatory bowel diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We aimed to determine the prevalence of monogenic disease in a cohort of pediat
Autor:
Jennifer A. Lee, Carlos Ferreira, Kym M. Boycott, Lina Basel-Salmon, Yue Si, Richard E. Person, Michael J. Lyons, Melissa T. Carter, Dmitriy Niyazov, Claudia Gonzaga-Jauregui, Renee Bend, Erin Torti, Lior Cohen, Samantha K Rojas, Ingrid M. Wentzensen, Mohamad A. Mikati
Publikováno v:
European Journal of Human Genetics
PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations in
Autor:
Alina Kurolap, Hagit Baris Feldman, John D. Overton, Ann Saada, Adi Mory, Tova Hershkovitz, Tamar Paperna, Sarah Wolf, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Hanna Mandel
Publikováno v:
Journal of Human Genetics. 64:589-595
Translation of mitochondrial-specific DNA is required for proper mitochondrial function and energy production. For this purpose, an elaborate network of dedicated molecular machinery including initiation, elongation and termination factors exists. We
Autor:
Karlla W. Brigatti, John D. Overton, Mark Yoder, Anthony Antonellis, Vincent J Carson, Erick D Martinez, Lili Miles, Kadakkal Radhakrishnan, Vinay Kandula, Aris Baras, Claudia Gonzaga-Jauregui, Laurie B. Griffin, Jeffrey G. Reid, Robert N. Jinks, Erik G. Puffenberger, Katie B. Williams, Katryn N. Furuya, Olivia Wenger, Kevin A. Strauss, Matthew M Demczko, Laura Poskitt, Michael D Fox
Publikováno v:
Human Molecular Genetics. 28:525-538
Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven rel
Autor:
Eric D. Austin, Rizwan Hamid, William C. Nichols, Jiayao Wang, Philip M. Allen, Frederick E. Dewey, Yufeng Shen, Erika B. Rosenzweig, Wendy K. Chung, Lijiang Ma, John D. Overton, Alejandra King, Katie A. Lutz, Claudia Gonzaga-Jauregui, Carrie L. Welch, Jeffrey G. Reid, Michael W. Pauciulo, Usha Krishnan, D. Dunbar Ivy, Aris Baras, Na Zhu
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-11 (2018)
Genome Medicine
Genome Medicine
Background Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive pulmonary arterial pressures, right-sided heart failure, and a high mortality rate. Up to 30% of
Autor:
Donna L. Robinson, Cristopher V. Van Hout, Mindy Kuebler, Millie Young, Kavita Praveen, Erik G. Puffenberger, Scott Mellis, Aris Baras, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Kevin A. Strauss, Alejandra King, Robert N. Jinks, Jeffrey G. Reid, John D. Overton, Frederick E. Dewey, Katie B. Williams, Ian Finnegan, Adam D. Heaps
Publikováno v:
Genetics in Medicine. 20:31-41
PurposeWe integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.MethodsSeventy-nine probands (newborn to 49.8 years) who presented between 1998
Autor:
Bryn Jones, Stephan Waldmueller, Elizabeth J. Bhoj, Erik G. Puffenberger, Hakon Hakonarson, Nanditha Das, Tiong Yang Tan, Claudia Gonzaga-Jauregui, Ioanna Skubas, Sarah J. Hatsell, Susannah Brydges, Stefanie Eggers, Karlla W. Brigatti, Kevin A. Strauss, Melissa G. Dominguez, Ron A. Deckelbaum, Angelika Riess, Gwenaël Le Guyader, Peter G. Farlie, Virginia Hughes, Peter J Simm, Tobias B. Haack, LiQin Xie, Katharina Steindl, Pascal Joset, Aris N. Economides, Dong Li, Fanny Pelluard, Michael Hofbeck, Chia-Jen Siao, Naomi L. Baker, John D. Overton, Anita Rauch, Valerie Mayne, Marc Sturm
Publikováno v:
American journal of human genetics. 101(6)
Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short s
Autor:
Ronak M, Patel, David, Liu, Claudia, Gonzaga-Jauregui, Shalini, Jhangiani, James T, Lu, V Reid, Sutton, Susan D, Fernbach, Mahshid, Azamian, Lisa, White, Jane C, Edmond, Evelyn A, Paysse, John W, Belmont, Donna, Muzny, James R, Lupski, Richard A, Gibbs, Richard Alan, Lewis, Brendan H, Lee, Seema R, Lalani, Philippe M, Campeau
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wa