Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Martin G. Bialer"'
Autor:
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
Externí odkaz:
https://doaj.org/article/360ad6a6ef7c4ee28aed4090b30bd7e5
Autor:
Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with
Externí odkaz:
https://doaj.org/article/2f149b8196854879821d3ece66218bf2
Publikováno v:
The Journal of Emergency Medicine. 56:e1-e4
Background RIPPLY2-associated spondylocostal dysostosis is a rare disorder that leads to segmentation defects of the vertebrae. These vertebral defects can result in severe instability of the cervical spine, leading to cardiac arrest after only minor
Autor:
Joanne Kurtzberg, Vinod K. Prasad, Devin Oglesbee, Jennifer Rubin, April Studinski, Piero Rinaldo, Silvia Tortorelli, Martin G. Bialer, Laura Pisani, Kimiyo Raymond, Sharon Chen, Peter R. Baker, Alanna Strong, Amy L. White, Nicole Engelhardt, Rachel Hickey, Dietrich Matern, Joseph J. Orsini, George E. Hoganson, Leighann Sremba, Maria L. Escolar, Dawn Peck, Michael H. Gelb, Adam J. Guenzel, Dimitar Gavrilov, Jennifer Burton, Gisele Pino, Coleman T. Turgeon
Publikováno v:
Molecular Genetics and Metabolism. 132:S29-S30
Autor:
Louise Bier, Fan Xia, Zhong Ren, Susan Schelley, Geoffrey Wallace, Amy L Schneider, Thomas Besnard, Tracy Dudding-Byth, David Goldstein, Benjamin Cogné, Gregory M. Enns, Xiaolin Zhu, Jill A. Rosenfeld, Edwin Guzman, Xenia Latypova, Joanne M. Nguyen, Anya Revah Politi, James J. Riviello, Sophie Colombo, Erin L. Heinzen, Candace T. Myers, Bertrand Isidor, Joline C. Dalton, Theresa A. Grebe, Michele G. Mehaffey, Peter I. Karachunski, Kwame Anyane-Yeboa, Jonathan A. Bernstein, Slavé Petrovski, Klaas J. Wierenga, Alice Basinger, Heather C Mefford, Martin G. Bialer, Pierre Corre, Ingrid E. Scheffer, Emily Becraft, Stéphane Bézieau, Natasha Shur, Sandra Mercier, Aaron Rosen, Christine Moore, Sébastien Schmitt, Sébastien Küry, Alexandrea Wadley, Parisa Hemati, Ian Andrews
Publikováno v:
The American Journal of Human Genetics. 98:1001-1010
Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding pro
Autor:
Herbert Schuster, Franz Rüschendorf, Carolin Schächterle, Hermann Haller, Anita Rauch, Thomas F. Wienker, Eireen Bartels-Klein, Fabrice Vandeput, Sylvia Bähring, Martin G. Bialer, Friedrich C. Luft, Thomas Liehr, Andreas Busjahn, Anja Weise, Stefan Mundlos, Jurg Ott, Irene Hollfinger, Matthew A. Movsesian, Astrid Mühl, Ramin Naraghi, Maolian Gong, Fatimunnisa Qadri, Enno Klussmann, Herbert Schulz, Jens Jordan, Jochen Hecht, Knut Mai, Martin Kann, Katharina Rittscher, Carsten Lindschau, Nihat Bilginturan, Ghislaine Plessis, Dmitri Parkhomchuk, Peter Krawitz, David Chitayat, Okan Toka, Jens Tank, Maxwell Hopp, Atakan Aydin, Martin Vaegler, Philipp G. Maass, Norbert Hubner, Hakan R. Toka, Yvette Wefeld-Neuenfeld, Lars O Hattenbach, Russell Hodge, Sigmar Stricker
Publikováno v:
Nature Genetics
Cardiovascular disease is the most common cause of death worldwide, and hypertension is the major risk factor(1). Mendelian hypertension elucidates mechanisms of blood pressure regulation. Here we report six missense mutations in PDE3A (encoding phos
Autor:
Megan T. Cho, Nathaniel H. Robin, Yufeng Shen, David A. Sweetser, Wendy K. Chung, Payam Mohassel, Kyle Retterer, Christine Moore, Martin G. Bialer, Carsten G. Bönnemann, Lynne A. Wolfe, Francisca Millan, Christine M. Eng, Yunru Shao, Jessica L. Waxler, Cynthia J. Tifft, Esther R. Berko, Fallon Brewer, Sandra Donkervoort
Publikováno v:
Journal of Medical Genetics. 54:84-86
Background The causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID. Methods and results In this study, we performed whole exome sequencing on a large cohor
Publikováno v:
Journal of Hepatology. 58:1230-1243
SummaryCholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The d
Autor:
Simon Jones, Ornella Guardamagna, Gregory M. Enns, Iman G. Mahmoud, Laila Selim, Stephen Eckert, Jennifer Domm, Vassili Valayannopoulos, Julian Raiman, Anthony G. Quinn, Anil Dhawan, Stephen D. Cederbaum, Eugene Schneider, Alicia Chan, Osama K. Zaki, David N. Finegold, Maryam Banikazemi, J. Jay Gargus, Chester B. Whitley, Christian J. Hendriksz, Martin G. Bialer, Maja Di Rocco
Publikováno v:
Jones, SA; Valayannopoulos, V; Schneider, E; Eckert, S; Banikazemi, M; Bialer, M; et al.(2016). Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. GENETICS IN MEDICINE, 18(5), 452-458. doi: 10.1038/gim.2015.108. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/6908r4pq
Genetics in Medicine
Genetics in medicine : official journal of the American College of Medical Genetics, vol 18, iss 5
Genetics in Medicine
Genetics in medicine : official journal of the American College of Medical Genetics, vol 18, iss 5
Purpose: The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy. Genet Med 18 5, 452–458. Methods: Investigators reviewed medical records of infants with LALD and summarized data for the overall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd9ac2890f771bad20a1c02978daf82b
http://www.escholarship.org/uc/item/6908r4pq
http://www.escholarship.org/uc/item/6908r4pq
Autor:
Martin G. Bialer, Paul Harmatz, Hui Wang, Ke Yang, Ken Martin, Simon Jones, Rossella Parini, Adam J. Shaywitz
Publikováno v:
Pediatric research, vol 78, iss 6
Pediatric Research
Jones, S A, Bialer, M, Parini, R, Martin, K, Wang, H, Yang, K, Shaywitz, A J & Harmatz, P 2015, ' Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y ', PEDIATRIC RESEARCH, vol. 78, no. 6, pp. 717-722 . https://doi.org/10.1038/pr.2015.169
Pediatric Research
Jones, S A, Bialer, M, Parini, R, Martin, K, Wang, H, Yang, K, Shaywitz, A J & Harmatz, P 2015, ' Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y ', PEDIATRIC RESEARCH, vol. 78, no. 6, pp. 717-722 . https://doi.org/10.1038/pr.2015.169
Background: Previous studies have shown that elosulfase alfa has a favorable efficacy/safety profile in Morquio A patients aged ≥5 y. This study evaluated safety and impact on urine keratan sulfate (uKS) levels and growth velocity in younger patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96854605fc4037a81dab50c27520159f
https://escholarship.org/uc/item/1wh573m2
https://escholarship.org/uc/item/1wh573m2