Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Yoseph, Horovitz"'
Autor:
Osama Tanous, Orna Steinberg Shemer, Joanne Yacobovich, Meira Zoldan, Yoseph Horovitz, Isaac Yaniv, Esther Rabizadeh, Hannah Tamary, Sigal Nakav, Judith Lahav
Publikováno v:
Platelets, Vol 28, Iss 7, Pp 676-681 (2017)
Platelet function disorders (PFDs) are a common cause of mild bleeding tendency. However, they cannot be recognized by standard screening studies. The gold standard test for PFD is platelet aggregation, performed by light transmission aggregometry (L
Externí odkaz:
https://doaj.org/article/50ea3b31094d4e52a9d548069f988855
Autor:
Hanna Mandel, Marketa Tesarova, Vladimir Bzduch, Martin Zahorec, Ronen Spiegel, Joél Smet, Rudy Van Coster, Jiri Zeman, Shamima Rahman, Katarina Brennerova, Tomas Honzik, Fatma Tuba Eminoğlu, Eva Morava-Kozicz, Alexander Broomfield, Veronika Dvorakova, Diego Martinelli, Johannes Koch, Martin Magner, Yoseph Horovitz, Vesna Stojanović, Stella Mazurova, Hana Hansikova, Vassiliki Konstantopoulou, Enrico Bertini, Wolfgang Sperl, Johannes A. Mayr, Carlo Dionisi-Vici
Publikováno v:
Journal of Inherited Metabolic Disease. 38:417-426
TMEM70 deficiency is the most common nuclear-encoded defect affecting the ATP synthase. In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 patients with mutations in TMEM70. Eleven
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af3cb841d2961bf4210c458f6e0a027
https://doi.org/10.1007/s10545-014-9774-8
https://doi.org/10.1007/s10545-014-9774-8
Publikováno v:
Rheumatology International. 34:1497-1503
The current study aimed to define evidence-based admission criteria of pediatric Henoch-Schonlein purpura (HSP). In addition, we aimed to better characterize epidemiological and clinical features of pediatric HSP in Israel. We performed a retrospecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a1bdbfd789262993472cbedb14321d
https://doi.org/10.1007/s00296-014-2971-9
https://doi.org/10.1007/s00296-014-2971-9
Autor:
Louis H. Philipson, Yoseph Horovitz, Graeme I. Bell, Eric Boerwinkle, Honggang Ye, Stavit A. Shalev, Richard A. Gibbs, Craig L. Hanis, David Carmody, Heather M. Highland, Veronica Paz, Siri Atma W. Greeley, Yardena Tenenbaum-Rakover, Donna M. Muzny
Publikováno v:
Pediatric Diabetes. 15:252-256
Neonatal diabetes mellitus is known to have over 20 different monogenic causes. A syndrome of permanent neonatal diabetes along with primary microcephaly with simplified gyral pattern, associated with severe infantile epileptic encephalopathy was rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3e100753674e9dd6a3faa49ff222c23
https://doi.org/10.1111/pedi.12086
https://doi.org/10.1111/pedi.12086
Autor:
Judith Lahav, Esther Rabizadeh, Meira Zoldan, Isaac Yaniv, Osama Tanous, Sigal Nakav, Hannah Tamary, Yoseph Horovitz, Joanne Yacobovich, Orna Steinberg Shemer
Publikováno v:
Platelets. 28(7)
Platelet function disorders (PFDs) are a common cause of mild bleeding tendency. However, they cannot be recognized by standard screening studies. The gold standard test for PFD is platelet aggregation, performed by light transmission aggregometry (L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b10a28d639ab9a05f55d00fdd1fad370
https://pubmed.ncbi.nlm.nih.gov/28060550
https://pubmed.ncbi.nlm.nih.gov/28060550
Publikováno v:
International journal of rheumatic diseases. 21(3)
Aims To determine if familial Mediterranean fever (FMF) genetic testing should be advised in children with initial presentation of monoarthritis and to identify clinical parameters associated with FMF-induced arthritis that warrant genetic investigat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6ce04add44ad9318efd174955fa9716
https://pubmed.ncbi.nlm.nih.gov/27310037
https://pubmed.ncbi.nlm.nih.gov/27310037
Autor:
Orly Elpeleg, Eli Hershkovitz, Morad Khayat, Stanley H. Korman, Hanna Mandel, Ronen Spiegel, Stavit A. Shalev, Yoseph Horovitz, Avraham Shaag, Ido Yatsiv, Flora Barghuti, Ann Saada
Publikováno v:
Journal of Medical Genetics. 48:177-182
Background The TMEM70 gene defect was recently identified as a novel cause of autosomal recessive ATP synthase deficiency. Most of the 28 patients with TMEM70 disorder reported to date display a distinctive phenotype characterised by neonatal onset o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290b1d210b1fb3d9fd155d30b525492d
https://doi.org/10.1136/jmg.2010.084608
https://doi.org/10.1136/jmg.2010.084608
Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations
Autor:
Salvatore DiMauro, Ronen Spiegel, Estela Area Gomez, Sindu Krishna, Hasan O. Akman, Yoseph Horovitz
Publikováno v:
Neuromuscular Disorders. 19:207-211
We describe an 18-year-old man with muscle cramps and recurrent exertional myoglobinuria, without hemolytic anemia or brain dysfunction. Phosphoglycerate kinase (PGK) deficiency was documented in muscle and erythrocytes and molecular analysis of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5a0dcfad9c655b1dd102fa1f0cc7ae
https://doi.org/10.1016/j.nmd.2008.12.004
https://doi.org/10.1016/j.nmd.2008.12.004
Autor:
Irena Shizgreen, Eliel Ben David, Dan Miron, Frederic S. Ohnona, Andrey Izkovitz, Yechiel Schlesinger, Anthony Luder, Yoseph Horovitz
Publikováno v:
The Pediatric Infectious Disease Journal. 25:898-901
Background: The extent and clinical manifestations of acute human parvovirus B19 (B19) infection were assessed in previously healthy hospitalized children admitted with clinical syndromes potentially associated the virus. Patients and Methods: The st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5853f94dbdbbf4d77d761c0d6b2d6205
https://doi.org/10.1097/01.inf.0000237865.01251.d2
https://doi.org/10.1097/01.inf.0000237865.01251.d2
Autor:
Morad Khayat, Theodor C. Iancu, Hanna Mandel, Stavit A. Shalev, Margarita Indelman, Ilana Chervinsky, Ksenya Cohen Katsanelson, Yoseph Horovitz, Ronen Spiegel, Eugene Vladovski, Eli Sprecher
Publikováno v:
European journal of medical genetics. 57(11-12)
Neuronal ceroid lipofuscinosis (NCL) refers to a growing heterogeneous group of neurodegenerative disorders characterized by lysosomal accumulation of abnormal autofluorescent material. NCLs are traditionally classified clinically according to their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f2a285ab794eaaae77573ac10b886be
https://pubmed.ncbi.nlm.nih.gov/25270050
https://pubmed.ncbi.nlm.nih.gov/25270050