Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Claudia Gonzaga-Jauregui"'
Autor:
Victor Murcia Pienkowski, Saima Riazuddin, Matthew J. Schultz, S. Amer Riazuddin, Foong-Yen Lim, Nicola Perrotti, Claudia Gonzaga-Jauregui, Muhammad A. Usmani, Zubair M. Ahmed, Hane Lee, Erik G. Puffenberger, Anneke J.A. Kievit, Tommaso Pippucci, Pamela Magini, Emma Colao, M. Mahdi Motazacker, Rebecca Hernan, Mureed Hussain, Karlla W. Brigatti, Wendy K. Chung, Matias Wagner, Marco Seri, Mohsin Shahzad, Brendan C. Lanpher, Zhiyv Niu, Karolina Matuszewska, Hans van Bokhoven, Faiza Rasheed, J. S. Klein Wassink-Ruiter, Kristen J. Rasmussen, Verena Kraus, Jessica Kianmahd, Julian A. Martinez-Agosto, Flavia Palombo, Rafał Płoski, Sheikh Riazuddin
Publikováno v:
American Journal of Human Genetics, 108, 1330-1341
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)
American journal of human genetics, 108(7), 1330-1341. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 7, pp. 1330-1341
American Journal of Human Genetics, 108(7), 1330-1341. CELL PRESS
American Journal of Human Genetics, 108(7), 1330-1341. Cell Press
Am. J. Hum. Genet. 108, 1330-1341 (2021)
Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several herita
Autor:
David J. Carey, Cristen J. Willer, Anthony Marcketta, Claudia Schurmann, Leland Barnard, John Penn, Suganthi Balasubramanian, Daren Liu, Joseph B. Leader, Gonçalo R. Abecasis, Marcus B. Jones, John C. Whittaker, Ashutosh K. Pandey, Ida Surakka, David H. Ledbetter, Evan Maxwell, John D. Overton, Andrew Blumenfeld, Michael N. Cantor, Robert A. Scott, Wendy K. Chung, Alexander H. Li, Alexander Lopez, Joshua D. Backman, Matthew R. Nelson, Jeffrey Staples, Giovanni Coppola, Jonathan Marchini, Xiaodong Bai, Kavita Praveen, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Aris N. Economides, Shareef Khalid, William J Salerno, Bin Ye, Cristopher V. Van Hout, Kristian Hveem, Jeffrey G. Reid, Colm O'Dushlaine, Joshua D. Hoffman, Laura M. Yerges-Armstrong, Nilanjana Banerjee, Sean O'Keeffe, Ioanna Tachmazidou, Lon R. Cardon, Alicia Hawes, Aris Baras, Ashish Yadav, George D. Yancopoulos, Lukas Habegger
Publikováno v:
Nature
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-sequence data for the first 49,960 study
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:
Adi Mory, R Wollstein, Tamar Paperna, G Larom-Khan, Vardit Adir, Hagit Baris Feldman, Alina Kurolap, Lena Sagi-Dain, Noam Adir, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Amir Peleg
Publikováno v:
Clinical Dysmorphology. 30:71-75
Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the ca
Autor:
Liat Salzer‐Sheelo, Avi Fellner, Naama Orenstein, Lily Bazak, Noa Lev‐El Halabi, Melanie Daue, Pola Smirin‐Yosef, Cristopher V. Van Hout, Yakov Fellig, Noa Ruhrman‐Shahar, Jeffrey Staples, Nurit Magal, Alan R. Shuldiner, Braxton D. Mitchell, Yoram Nevo, Toni I. Pollin, Claudia Gonzaga‐Jauregui, Lina Basel‐Salmon
Publikováno v:
European journal of neurologyREFERENCES. 29(4)
Muscular A-type lamin-interacting protein (MLIP) is most abundantly expressed in cardiac and skeletal muscle. In vitro and animal studies have shown its regulatory role in myoblast differentiation and in organization of myonuclear positioning in skel
Autor:
Melanie A. Manning, Ping Fang, Julie R. Jones, Patricia A. Wight, Ken Inoue, Feng Zhang, James R. Lupski, Claudia M.B. Carvalho, Angelique Davis-Williams, Sakku Bai Naidu, Andrea Poretti, Soe Mar, Davut Pehlivan, Carly Jornlin, Hadia Hijazi, Fernanda S. Coelho, Xiaofei Song, Pankaj Patyal, Siddharth Srivastava, Claudia Gonzaga-Jauregui, Grace M. Hobson, Jennifer R. Taube, Barbara Torres, Laura Bernardini, Jennifer A. Lee, Michael J. Friez, Thomas Alberico, Andrea Hanson-Kahn, Sau Wai Cheung
Publikováno v:
Human Mutation. 41:150-168
Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inac
Autor:
Adi Mory, Tamar Paperna, Gili Reznick-Levi, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Miora Feinstien, Lina Basel-Salmon, Nivin Moustafa, Hagit Baris Feldman, Alina Kurolap, Yael Goldberg, Nitzan Sharon-Shwartzman, Elizabeth E. Half, Yishai Ofran, Yariv Carasso
Publikováno v:
Journal of Medical Genetics. 57:500-504
BackgroundChromosomal instability, as reflected by structural or copy-number changes, is a known cancer characteristic but are rarely observed in healthy tissue. Mutations in DNA repair genes disrupt the maintenance of DNA integrity and predispose to
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:
Brunhilde Wirth, Jonathan Baets, Claudia Gonzaga-Jauregui, Roman Rombo, Stephan Züchner, Nico Fuhrmann, Irmgard Hölker, Maximilian P. Thelen, Vincent J Carson, Peter De Jonghe, Bertold Schrank, Erik G. Puffenberger, Gilbert Wunderlich, Danique Beijer, Kevin A. Strauss, Natalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, Tine Deconinck, Sebastian Zetzsche, Karlla W. Brigatti
Publikováno v:
American Journal of Human Genetics
The American Journal of Human Genetics
The American journal of human genetics
The American Journal of Human Genetics
The American journal of human genetics
Distal hereditary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetically heterogeneous diseases characterized primarily by motor neuron degeneration and distal weakness. The genetic cause for about h
Autor:
Lina, Basel-Salmon, Noa, Ruhrman-Shahar, Naama, Orenstein, Yael, Goldberg, Claudia, Gonzaga-Jauregui, Alan R, Shuldiner, Rivka, Sukenik-Halevy, Idit, Maya, Nurit, Magal, Ofir, Hagari, Noy, Azulay, Gabriel Arie, Lidzbarsky, Lily, Bazak
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(1)
Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in proband's family members might impact exome data interpretation.Of 614 exomes, 209 were diagno