Zobrazeno 51 - 60
of 83
pro vyhledávání: '"Sander Pajusalu"'
Autor:
Benjamin Cogné, Stephen Sanders, François Rivier, Tahir N. Khan, Mireille Claustres, Gaetan Lesca, Lihadh Al-Gazali, Annick Vogels, Sarah Weckhuysen, Nicholas Katsanis, Stéphane Bézieau, Thomas Besnard, Maxime Cadieux-Dion, Julitta de Bellescize, Katrin Õunap, Anne Boland, Aurora Pujol, Monica H. Wojcik, Maria J. Guillen Sacoto, Paul Rollier, Laurent Pasquier, Bertrand Isidor, Sébastien Küry, Hilde Van Esch, Aisha Al Shamsi, Megan T. Cho, Kyle Retterer, Michel Koenig, Christèle Dubourg, Andreas G. Chiocchetti, Damien Sanlaville, Erica E. Davis, Claire Guissart, Sander Pajusalu, Hannah Stamberger, Xenia Latypova, Shannon Sattler, Souphatta Sasorith, Isabelle Thiffault, Marie Vincent, Nicolas Leboucq, Irman Forghani, Lynn Schema, Sylvie Odent, Marie T. McDonald, Lauren E. Grote, Susanne Kjaergaard, Wilfrid Carré, Rena Pressman, Emily G. Farrow, Jean-François Deleuze, Carol J Saunders, Deborah Barbouth, Danielle Karlowicz, Nicole P. Safina, Kirsty McWalter, Christine M. Freitag, Wim Van Paesschen, Rebecca Willaert
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
Dipòsit Digital de la UB
Universidad de Barcelona
The American journal of human genetics
American Journal of Human Genetics, 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
American journal of human genetics, vol 102, iss 5
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
Dipòsit Digital de la UB
Universidad de Barcelona
The American journal of human genetics
American Journal of Human Genetics, 2018, 102 (5), pp.744-759. ⟨10.1016/j.ajhg.2018.02.021⟩
American journal of human genetics, vol 102, iss 5
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to res
Publikováno v:
Neuroscience. 374:91-103
Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy. WFS1 has been shown to participate in
Publikováno v:
Molecular Syndromology. 9:205-213
Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages
Autor:
Katherine R. Chao, Payam Mohassel, Tiia Reimand, Julia K. Goodrich, M. Wojcik, D. Vargas-Franco, Sander Pajusalu, Werner Stenzel, Peter B. Kang, Katrin Õunap, Sanna Puusepp, T. Siddique, Carsten G. Bönnemann, Sandra Coppens, Sandra Donkervoort, C. Bruels, L. Pais
Publikováno v:
Neuromuscular Disorders. 30:S143-S144
Autor:
Lynn Pais, Samantha Baxter, Vijay S. Ganesh, Ben Weisburd, Heidi L. Rehm, Stephanie DiTroia, Julia K. Goodrich, Anne H. O’Donnell-Luria, Emily O'Heir, Katrin Õunap, Alan H. Beggs, Pankaj B. Agrawal, Daniel G. MacArthur, Monica H. Wojcik, Sander Pajusalu, Katherine R. Chao
Publikováno v:
Molecular Genetics and Metabolism. 132:S88
Autor:
Katrin Õunap, Hanno Roomere, Kristi Simenson, Ülle Murumets, Tiia Reimand, Tiina Kahre, Laura Roht, Sander Pajusalu
Publikováno v:
Clinical Genetics. 93:78-83
BACKGROUND In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. MATERIALS AND METHODS Here we
Autor:
Riina Zordania, Dirk Lefeber, Kai Teeäär, Mari Anne Vals, Katrin Õunap, Eva Morava, Sander Pajusalu
Publikováno v:
American Journal of Medical Genetics. Part A, 173, 1620-1624
American Journal of Medical Genetics. Part A, 173, 6, pp. 1620-1624
American Journal of Medical Genetics. Part A, 173, 6, pp. 1620-1624
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable. Patients often have a recognizable phenotype with neuro
Autor:
Eleanor G. Seaby, Marwan Shinawi, Raymond J. Louie, Aida Telegrafi, Suzanne M. Leal, Julien Buratti, Ana Petracovici, David B. Beck, Muhammad Arif Nadeem Saqib, Boris Keren, Sivagamy Sithambaram, Muhammad Zahid, Marie-Christine Nougues, Sander Pajusalu, Jill A. Fahrner, Eloise J. Prijoles, G. Bradley Schaefer, Dustin Baldridge, Trudie Cottrell, Regie Lyn P. Santos-Cortez, Roberto Bonasio, Tiia Reimand, Muhammad Ansar, Kirsty McWalter, Sofia Douzgou, Cyril Mignot, Siddharth Banka, Hannah W. Moore, Chongsheng He, Roger E. Stevenson, Katrin Õunap, Renee Bend
Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b252a93b681045e4e6abb069876ac02
Autor:
Tiia Reimand, Kirsty McWalter, Eleanor G. Seaby, G. Bradley Schaefer, Marwan Shinawi, Muhammad Arif Nadeem Saqib, Aida Telegrafi, Ana Petracovici, Sander Pajusalu, Jill A. Fahrner, David B. Beck, Chongsheng He, Hannah W. Moore, Suzanne M. Leal, Raymond J. Louie, Siddharth Banka, Renee Bend, Regie Lyn P. Santos-Cortez, Roberto Bonasio, Boris Keren, Marie Christine Nougues, Eloise J. Prijoles, Muhammad Ansar, Katrin Õunap, Roger E. Stevenson, Julien Buratti, Sofia Douzgou, Cyril Mignot, Sivagamy Sithambaram, Trudie Cottrell, Dustin Baldridge, Muhammad Zahid
Publikováno v:
Am J Hum Genet
Beck, D B, Petracovici, A, He, C, Moore, H W, Louie, R J, Ansar, M, Douzgou, S, Sithambaram, S, Cottrell, T, Santos-Cortez, R L P, Prijoles, E J, Bend, R, Keren, B, Mignot, C, Nougues, M-C, Õunap, K, Reimand, T, Pajusalu, S, Saqib, M A N, Buratti, J, Seaby, E G, McWalter, K, Telegrafi, A, Baldridge, D, Shinawi, M, Leal, S M, Schaefer, G B, Stevenson, R E, Banka, S, Bonasio, R & Fahrner, J A 2020, ' Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery : TET3 Deficiency ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.12.007
Beck, D B, Petracovici, A, He, C, Moore, H W, Louie, R J, Ansar, M, Douzgou, S, Sithambaram, S, Cottrell, T, Santos-Cortez, R L P, Prijoles, E J, Bend, R, Keren, B, Mignot, C, Nougues, M-C, Õunap, K, Reimand, T, Pajusalu, S, Saqib, M A N, Buratti, J, Seaby, E G, McWalter, K, Telegrafi, A, Baldridge, D, Shinawi, M, Leal, S M, Schaefer, G B, Stevenson, R E, Banka, S, Bonasio, R & Fahrner, J A 2020, ' Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery : TET3 Deficiency ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.12.007
Germline pathogenic variants in chromatin-modifying enzymes are a common cause of pediatric developmental disorders. These enzymes catalyze reactions that regulate epigenetic inheritance via histone post-translational modifications and DNA methylatio
Autor:
Carsten G. Bönnemann, Janis Stavusis, Baiba Lace, Nathan T. Wright, Jochen Schäfer, Dietrich Haubenberger, Aikaterini Kontrogianni-Konstantopoulos, Annika Saak, Janelle Geist, Manja Weinhold, Dita Kidere, Sandra Jackson, Inna Inashkina, Sander Pajusalu
Publikováno v:
Ann Neurol
Objective To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families. Methods Clinical evaluations as well as exome and panel sequencing analyses were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19bea6476631230c2ca616af6eb0d1da
https://europepmc.org/articles/PMC6685440/
https://europepmc.org/articles/PMC6685440/