Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Andrea Bates"'
Autor:
Peter N. Cox, Daniele Merico, Vy Hong-Diep Kim, Chaim M. Roifman, Bhooma Thiruvahindrapuram, Jo-Anne Herbrick, Bo Ngan, Thomas Nalpathamkalam, Andrea Bates, Julia Upton, Nufar Marcus
Publikováno v:
LymphoSign Journal. :10-26
Introduction: Genetic aberrations associated with combined immunodeficiency have been increasingly identified in the past two decades. Yet, there are still 30% of these patients with unidentified genetic cause.Methods: We employed whole genome sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::470d411340e82e0b35b4d9410340b30f
https://doi.org/10.14785/lpsn-2014-0002
https://doi.org/10.14785/lpsn-2014-0002
Publikováno v:
Autoimmunity Reviews. 11:341-347
Objective Toll-like receptors, a major component of the innate immune system, play an important role in the initial response against pathogens. Genetic abnormalities in some receptors like TLR2, TLR3 and TLR4 have been associated with susceptibility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5e988732fbaba3a48d541e27bbf8dd
https://doi.org/10.1016/j.autrev.2011.10.007
https://doi.org/10.1016/j.autrev.2011.10.007
Publikováno v:
Journal of Allergy and Clinical Immunology. 127:528-531
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f3741e9ffb192d2d082f5caf1f1aa02
https://doi.org/10.1016/j.jaci.2010.09.031
https://doi.org/10.1016/j.jaci.2010.09.031
Autor:
Bhooma Thiruvahindrapuram, Benjamin J. Blencowe, Alyson Kakakios, Maian Roifman, Thomas Nalpathamkalam, Raymond Buncic, Jane Peake, Brenda Reid, Andrea Bates, Stephanie Hogarth, Daniele Merico, Stephen W. Scherer, Ulrich Braunschweig, Paul Gray, Chaim M. Roifman, Sergio L. Pereira, David Manson, Jo-Anne Herbrick, Zhuozhi Wang, Ryan K. C. Yuen, Roumiana Alexandrova
Publikováno v:
Nature Communications
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heteroz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d542ad3671223e422058a52287dadd45
https://pubmed.ncbi.nlm.nih.gov/26522830
https://pubmed.ncbi.nlm.nih.gov/26522830
Publikováno v:
Journal of Allergy and Clinical Immunology. 122:1220-1222
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef83bc98aa8b3680ab1e9b2202fc10c4
https://doi.org/10.1016/j.jaci.2008.10.027
https://doi.org/10.1016/j.jaci.2008.10.027
Autor:
Fotini D. Kavadas, Eleonora Pegoiani, Silvia Giliani, Andrea Bates, Chaim M. Roifman, Yiping Gu, Evelina Mazzolari, Luigi D. Notarangelo
Publikováno v:
The Journal of allergy and clinical immunology. 122(6)
Background Cartilage hair hypoplasia is an autosomal recessive type of metaphyseal chondrodysplasia, caused by mutations in the ribonuclease mitochondrial RNA processing ( RMRP ) gene. Typical features of cartilage hair hypoplasia include short statu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ac1c3d320074b1597f1b0c93e653efe
https://pubmed.ncbi.nlm.nih.gov/18804272
https://pubmed.ncbi.nlm.nih.gov/18804272
Publikováno v:
Journal of Allergy and Clinical Immunology. 122:1219-1220
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::548351c2cc94b90bcd57c6b639e32d0e
https://doi.org/10.1016/j.jaci.2008.08.031
https://doi.org/10.1016/j.jaci.2008.08.031
Publikováno v:
Physiologybehavior. 34(5)
Cooling mother rats by means of sodium salicylate injections did not curtail the intervals between maternal contact bouts. To the contrary, the interbout intervals were prolonged, suggesting that the relief from hyperthermia is a necessary but not a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f7b7b8dae9aa5e21bc488ce44ef7908
https://pubmed.ncbi.nlm.nih.gov/4041058
https://pubmed.ncbi.nlm.nih.gov/4041058