Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Omer, Shlomovitz"'
Autor:
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Michal Stern-Zimmer, Aviva Eliyahu, Annick Raas-Rothschild, Maayan Bivas, Omer Shlomovitz, Odelia Chorin, Rachel Rock, Michal Tzadok, Bruria Ben-Zeev, Gali Heimer, Yoav Bolkier, Noah Gruber, Adi Dagan, Bat El Bar Aluma, Itai M. Pessach, Gideon Rechavi, Ortal Barel, Ben Pode-Shakked, Yair Anikster, Asaf Vivante
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric su
Externí odkaz:
https://doaj.org/article/5ffe107900c941c4ab532f5edb295397
Autor:
Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt
Publikováno v:
Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290
Background: About 40 disease genes have been described to date for isolated congenital anomalies of the kidneys and urinary tract (CAKUT), the most common cause of childhood chronic kidney disease. However, these genes account for only 20% of cases.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858
https://repository.ubn.ru.nl/handle/2066/290858
Autor:
Anat Shrot, Omer Shlomovitz, Philip Lawson, Shai Shrot, Bruria Ben-Zeev, Chen Hoffmann, Michal Tzadok
Publikováno v:
Neuroradiology. 64:611-620
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multiorgan hamartomas, including cerebral lesions, with seizures as a common presentation. Most TSC patients will also experience neurocognitive comorbidities. Our objective was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::977daa86cda5adb33fa16df1e07fbd99
https://doi.org/10.1007/s00234-021-02789-6
https://doi.org/10.1007/s00234-021-02789-6
Autor:
Omer Shlomovitz, Oren Pleniceanu, Shoshana Greenberger, Einat Lahav, Michal Tzadok, Sharon Mini, Bruria Ben-Zeev
Publikováno v:
Child's Nervous System. 37:3827-3833
We aimed to describe the experience of a large single-center cohort for the clinical, radiological, and genetic characteristics, as well as to determine the efficacy of different anti-epileptic strategies in children and adults with tuberous sclerosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56d77b3dc92c01763ff5ff3c6b5f841a
https://doi.org/10.1007/s00381-021-05348-9
https://doi.org/10.1007/s00381-021-05348-9
Autor:
Yarden Sarouf, Amir Vardi, Ben Pode-Shakked, Yishay Ben Moshe, Alvit Veber, Gideon Rechavi, Yair Anikster, Dina Marek-Yagel, Odelia Chorin, Annick Raas-Rothschild, Shrikant Mane, Yoav Bolkier, Yishay Salem, Danit Atias-Varon, Omer Shlomovitz, Elisheva Javasky, Tal Tirosh-Wagner, Uriel Katz, Jeffrey M. Jacobson, Orna Staretz-Chacham, Nechama Shalva, Ortal Barel, David Mishali, Maayan Kagan, Asaf Vivante, Aviva Eliyahu
Publikováno v:
Journal of Medical Genetics. 59:691-696
BackgroundThe molecular basis of heterotaxy and congenital heart malformations associated with disruption of left–right asymmetry is broad and heterogenous, with over 25 genes implicated in its pathogenesis thus far.ObjectiveWe sought to elucidate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2860acb43e08c30e8928380ab6ba385f
https://doi.org/10.1136/jmedgenet-2021-107775
https://doi.org/10.1136/jmedgenet-2021-107775
Autor:
Omer Shlomovitz, Dina Yagel, Ortal Barel, Danit Atias-Varon, Aviva Eliyahu, Younes Bathish, Victor Frajewicki, Daniel Kushnir, Rinat Zaid, Suheir Assady, Marina Tchirkov, Kamal Hassan, Khaled Khazim, Ronit Geroמ, Anaam Hanut, Farid Nakhoul, Yael Kenig, Refael Gery, Etty Kruzel-Davila, Marcel Leiba, Shimon Storch, Maayan Kagan, Benjamin Dekel, Gidi Rechavi, Rachel Shukrun, Yishay Ben Moshe, Karin Weiss, Asaf Vivante
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS Genetic etiologies are estimated to affect ∼10% of adults with advanced CKD. However, significant population disparities in genetic kidney disease exist and population-based screening are lacking especially among minority groups
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b54b803133262170e0c7e7047f90d1c
https://doi.org/10.1093/ndt/gfac062.027
https://doi.org/10.1093/ndt/gfac062.027
Autor:
Maayan Kagan, Yishay Ben Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Daniella Magen, Ruth Schreiber, Oded Volovelsky, Hadas Shasha-Lavsky, Miriam Davidovits, Yael Borovitz, Nofar Mor, Yulia Khavkin, Shimrit Tzvi Behr, Shirley Pollack, Michael Geylis, Aviad Schnapp, Irith Weissman, Ortal Barel, Asaf Vivante
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND Chronic kidney disease in children is estimated to be secondary to a monogenic etiology in ∼20% of patients and can arise from mutations in a multitude of different single-gene causes. Still, data are lacking on the true prevalence of ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::112e0c7d4a1ff37e3b5ec88dd11be5c9
https://doi.org/10.1093/ndt/gfac102.003
https://doi.org/10.1093/ndt/gfac102.003
Autor:
Ben Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, Lilach C. Regev, Maayan Kagan, Aviva Eliyahu, Dina Marek-Yagel, Danit Atias-Varon, Einat Lahav, Naomi Issler, Omer Shlomovitz, Rotem Semo Oz, Nitzan Kol, Nofar Mor, Ifat Bar-Joseph, Yulia Khavkin, Elisheva Javasky, Pazit Beckerman, Meidad Greenberg, Oded Volovelsky, Yael Borovitz, Miriam Davidovits, Orly Haskin, Hadas Alfandary, Shely Levi, Maital Kaidar, Ze’ev Katzir, Avital Angel-Korman, Rachel Becker-Cohen, Efrat Ben-Shalom, Adi Leiba, Eytan Mor, Amit Dagan, Itai M. Pessach, Danny Lotan, Moshe Shashar, Yair Anikster, Annick Raas-Rothschild, Gideon Rechavi, Benjamin Dekel, Asaf Vivante
Publikováno v:
Pediatric nephrology (Berlin, Germany). 37(7)
Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of genetic testing poses implementation chall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875b141e5d54b909a84bb48f2712f22e
https://pubmed.ncbi.nlm.nih.gov/34993602
https://pubmed.ncbi.nlm.nih.gov/34993602
Autor:
Ofri Vorobichik Berar, Michal Tzadok, Ofira Zloto, Iris Moroz, Idan Hecht, Anne Ampaire Musika, Omer Shlomovitz, Ido-Didi Fabian, Vicktoria Vishnevskia Dai
Publikováno v:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 260(9)
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Fifty percent of patients with TSC will develop retinal astrocytic hamartoma (RAH). The mammalian target of rapamycin (mTOR) inhibitors interferes with the pathological mechani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d085d10282c1f8e62a48bbed26a1f7f9
https://pubmed.ncbi.nlm.nih.gov/35230473
https://pubmed.ncbi.nlm.nih.gov/35230473
Autor:
Omer Shlomovitz, Shiri Spielman, Rotem Semo Oz, Maya Gerstein, Iris Eshed, Asaf Vivante, Irit Tirosh
Publikováno v:
The Journal of Pediatrics. 247:163-167.e2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7642c45b4846e09e6981f885cebac1ae
https://doi.org/10.1016/j.jpeds.2022.02.057
https://doi.org/10.1016/j.jpeds.2022.02.057