Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Yael, Wilnai"'
Autor:
Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabil
Externí odkaz:
https://doaj.org/article/a4eeec32a8884c4395e424f817425fe1
Autor:
Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Nadirah S. Damseh, Elena Dumin, Aviva Fattal‐Valevski, Tzipora C. Falik‐Zaccai, Clair Habib, Sagi Josefsberg, Stanley H. Korman, Katya Kneller, Yuval Landau, Tally Lerman‐Sagie, Hanna Mandel, Yehoshua Manor, Tameemi Moady Abdalla, Rachel Rock, Nira Rostami, Ann Saada, Talya Saraf‐Levy, Nava Shaul Lotan, Ronen Spiegel, Orna Staretz‐Chacham, Galit Tal, Igor Ulanovsky, Taly Vaisid, Yael Wilnai, Shlomo Almashanu
Publikováno v:
Journal of Inherited Metabolic Disease. 46:232-242
Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose-1-phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues p
Autor:
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen
Publikováno v:
van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P, Gregersen, P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, ' Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort ', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760 . https://doi.org/10.1016/j.gim.2022.04.010
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC
Genetics in Medicine, 24, 1753-1760
Genetics in Medicine, 24, 8, pp. 1753-1760
Genetics in Medicine
Genetics in Medicine, 2022, 24 (8), pp.1753-1760. ⟨10.1016/j.gim.2022.04.010⟩
Genet Med
Genetics in Medicine, 24(8), 1753-1760. Lippincott Williams & Wilkins
Genetics in Medicine, 24(8), 1753-1760. Nature Publishing Group
Genetics in Medicine, 24(8), 1753-1760. ELSEVIER SCIENCE INC
Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowl
Autor:
Penina, Ponger, Alina, Kurolap, Israela, Lerer, Judith, Dagan, Chofit, Chai Gadot, Adi, Mory, Yael, Wilnai, Nino, Oniashvili, Nir, Giladi, Tanya, Gurevich, Vardiella, Meiner, Alexander, Lossos, Hagit, Baris Feldman
Publikováno v:
Journal of Molecular Neuroscience. 72:1715-1723
AOA2 is a rare progressive adolescent-onset disease characterised by cerebellar vermis atrophy, peripheral neuropathy and elevated serum alpha-fetoprotein (AFP) caused by pathogenic bi-allelic variants in SETX, encoding senataxin, involved in DNA rep
Autor:
Levy, Michal, Lifshitz, Shira, Goldenberg-Fumanov, Mirela, Bazak, Lily, Goldshtein, Rayna Joy, Hamiel, Uri, Ziskind, Yael Wilnai, Berger, Rachel, Lipitz, Shlomo, Shohat, Mordechai
Publikováno v:
In American Journal of Obstetrics and Gynecology January 2024 230(1) Supplement:S558-S559
Autor:
Huan He, Anwar Iqbal, Einat Birk, David Gonzalez-Martinez, Maicon Landim-Vieira, Mayra A. Marques, Jerson L. Silva, Yael Wilnai, Jose R. Pinto, P. Bryant Chase, Jamie R. Johnston, Adolfo H. Moraes, Guilherme A. P. de Oliveira, Nili Zucker
Publikováno v:
Repositório Institucional da UFMG
Universidade Federal de Minas Gerais (UFMG)
instacron:UFMG
J Biol Chem
Universidade Federal de Minas Gerais (UFMG)
instacron:UFMG
J Biol Chem
Aberrant regulation of myocardial force production represents an early biomechanical defect associated with sarcomeric cardiomyopathies, but the molecular mechanisms remain poorly defined. Here, we evaluated the pathogenicity of a previously unreport
Autor:
Avivit Brener, Leonid Zeitlin, Yael Wilnai, Ohad S. Birk, Talya Rosenfeld, Efrat Chorna, Yael Lebenthal
Publikováno v:
Acta diabetologica. 59(5)
The precision medicine approach of tailoring treatment to the individual characteristics of each patient has been a great success in monogenic diabetes subtypes, highlighting the importance of accurate clinical and genetic diagnoses of the type of di
Autor:
Zheng Wang, Jingyi Xue, Gen Nishimura, Mitsuhiro Kometani, Yael Wilnai, Leonid Zeitlin, Akira Kinoshita, Koh-ichiro Yoshiura, Takeshi Imamura, Hirofumi Ohashi, Shunsuke Kawai, Masaaki Shiina, Kazuhiro Ogata, Noriko Miyake, Junya Toguchida, Andrea Superti-Furga, Naomichi Matsumoto, Shiro Ikegawa
Publikováno v:
Bone Reports. 16:101561
Autor:
Robert D. Steiner, Yael Lebenthal, Aideen M. McInerney-Leo, Yline Capri, Daphné Lehalle, Adi Mory, Grażyna G Krzemień, Cathy L. Raggio, Monika Miklaszewska, Robert D. Blank, Hila Milo Rasouly, Ali G. Gharavi, Annabelle Enriquez, David T. Humphreys, Emma L. Duncan, Gavin Chapman, Elizabeth Wohler, Paul Leo, Jeanne Amiel, Eddie Ip, Clémantine Dimartino, Christopher T. Gordon, Yael Wilnai, Eleni Giannoulatou, Duncan B. Sparrow, Joelene A Greasby, Hagit Baris Feldman, Delicia Sheng, Rebekah Jobling, Kavitha R Iyer, Philip F Giampietro, Ella M M A Martin, Sally L. Dunwoodie, Nara Sobreira
Publikováno v:
Hum Mol Genet
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258
https://doi.org/10.1093/hmg/ddaa258
Autor:
Katherine R. Nelson, Emilien Orgebin, Loic Geoffroy, Shawn R. Gilbert, Marie-Françoise O'Donohue, Antoine Hamel, Leonid Zeitlin, Stéphane Téletchéa, Annick Toutain, Richard Redon, Alexander Pepler, Benjamin Cogné, Stéphane Bézieau, Pierre Lindenbaum, Robel Tesfaye, Marc Baud'huin, Mathilde Nizon, Cédric Le Caignec, Christelle Retière, Lydie Da Costa, Manon Saby, Benoît de Courtivron, Yael Wilnai, Aliette Decock-Giraudaud, Benjamin Ory, Céline Charrier, Anna C.E. Hurst, Bertrand Isidor, Emmanuelle Mayrargue, Pierre-Emmanuel Gleizes, Kirsty McWalter, Francois Lamoureux, Olivier Pichon, Eitan Segev
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2019.09.024⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2019.09.024⟩
Am J Hum Genet
Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. Here, we report one de novo missense variant and three de novo splice va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395f5a105ec7adf07a5937db715ea6dc
https://hal.archives-ouvertes.fr/hal-02327833
https://hal.archives-ouvertes.fr/hal-02327833