Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Stavit, Shalev"'
Autor:
Sandrine Caburet, Anne-Laure Todeschini, Cynthia Petrillo, Emmanuelle Martini, Nada D. Farran, Bérangère Legois, Gabriel Livera, Johnny S. Younis, Stavit Shalev, Reiner A. Veitia
Publikováno v:
EBioMedicine, Vol 42, Iss , Pp 524-531 (2019)
Background: Primary Ovarian Insufficiency (POI), a major cause of infertility, affects about 1–3% of women under forty years of age. Although there is a growing list of causal genetic alterations, POI remains mostly idiopathic. Methods: We performe
Externí odkaz:
https://doaj.org/article/c89c6aa10eb94c78b3262f14448ee5de
Autor:
Jana Key, Sylvia Torres-Odio, Nina C. Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A. Phillip West, Holger Prokisch, Peter Freisinger, William G. Newman, Stavit Shalev, Stephan A. Sieber, Ilka Wittig, Georg Auburger
Publikováno v:
Cells, Vol 10, Iss 12, p 3354 (2021)
Biallelic pathogenic variants in CLPP, encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early sensorineural hearing l
Externí odkaz:
https://doaj.org/article/392176045a06439686ba95e970055680
Autor:
Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 3, Pp 319-336 (2017)
Abstract Dilated cardiomyopathy (DCM) is a life‐threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4–30 months from four families, were diagnosed with DCM associated with mild skin, tee
Externí odkaz:
https://doaj.org/article/3bda5fe3b264454bbafad929188d4a0f
Autor:
Siddharth Banka, Stavit Shalev, Soo-Mi Park, Katherine A Wood, Huw B Thomas, Helen L Wright, Mohammed Alyahya, Sean Bankier, Ola Alimi, Elena Chervinsky, Leo A H Zeef, Raymond T O’Keefe
Publikováno v:
BRAIN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523d62bd9a6409e8773d22d40b939bbe
https://doi.org/10.1093/brain/awac262
https://doi.org/10.1093/brain/awac262
Autor:
Liat Samuelov, Eli Sprecher, Holly Evans, Janice Schwartz, Stavit Shalev, Noam Adir, James Bergman, Eran Cohen Barak, Odile Meijers, Kiril Malovitski
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f62c9e3a2223fc910648be28e5aeb94
https://doi.org/10.26226/m.62fa00996199da001930fc17
https://doi.org/10.26226/m.62fa00996199da001930fc17
Autor:
Kiril Malovitski, Odile Meijers, Eran Cohen-Barak, James Bergman, Noam Adir, Moshe Giladi, Stavit Shalev, Ofer Sarig, Janice Schwartz, Holly Evans, Eli Sprecher, Liat Samuelov
Publikováno v:
The British journal of dermatologyReferences. 187(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abbc7bcda40baf7b46d065c0e56647c
https://pubmed.ncbi.nlm.nih.gov/35822394
https://pubmed.ncbi.nlm.nih.gov/35822394
Autor:
Eran Cohen-Barak, Nada Danial-Farran, Helwa Hammad, Ola Aleme, Judith Krauz, Ester Gavish, Morad Khayat, Michael Ziv, Stavit Shalev
Publikováno v:
Acta Dermato-Venereologica, Vol 98, Iss 8, Pp 809-810 (2018)
Externí odkaz:
https://doaj.org/article/bb78a597b2704d39b1bc61dfcfec2228
Autor:
Eran, Cohen-Barak, Nada, Danial-Farran, Elana, Chervinsky, Ola, Alimi-Kasem, Fadia, Zagairy, Ido, Livneh, Bannan, Mawassi, Maysa, Hreish, Morad, Khayat, Alexander, Lossos, Vardiella, Meiner, Nina, Ehilevitch, Karin, Weiss, Stavit, Shalev
Publikováno v:
Journal of medical genetics.
Monogenic neurodegenerative diseases represent a heterogeneous group of disorders caused by mutations in genes involved in various cellular functions including autophagy, which mediates degradation of cytoplasmic contents by their transport into lyso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6171447e2629937ed8c34e6283dc2eb6
https://pubmed.ncbi.nlm.nih.gov/35710109
https://pubmed.ncbi.nlm.nih.gov/35710109
Autor:
Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L Gallo, Noam Shomron, Ralf Paus, Eli Sprecher
Publikováno v:
PLoS Genetics, Vol 12, Iss 10, p e1006369 (2016)
Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featu
Externí odkaz:
https://doaj.org/article/2a310f48642d4138a48fbddd5896a7f3
Autor:
Rotem Kadir, Tamar Harel, Barak Markus, Yonatan Perez, Anna Bakhrat, Idan Cohen, Michael Volodarsky, Miora Feintsein-Linial, Elana Chervinski, Joel Zlotogora, Sara Sivan, Ramon Y Birnbaum, Uri Abdu, Stavit Shalev, Ohad S Birk
Publikováno v:
PLoS Genetics, Vol 12, Iss 3, p e1005919 (2016)
Primary microcephaly is a congenital neurodevelopmental disorder of reduced head circumference and brain volume, with fewer neurons in the cortex of the developing brain due to premature transition between symmetrical and asymmetrical cellular divisi
Externí odkaz:
https://doaj.org/article/01db379f64c84cf18be33060206d37ff