Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Idit Maya"'
Autor:
Michal Levy, Lily Bazak, Noa Lev-El, Rotem Greenberg, Nesia Kropach, Lina Basel-Salmon, Idit Maya
Publikováno v:
Genes, Vol 14, Iss 10, p 1854 (2023)
Background: Alport syndrome is a hereditary disorder caused by pathogenic variants in the COL4A gene, which can be inherited in an autosomal recessive, dominant, or X-linked pattern. In the Bukharian Jewish population, no founder pathogenic variant h
Externí odkaz:
https://doaj.org/article/9686a3c7ec7b4bcf9d2a88d43c7225d1
Autor:
Idit Maya, Sharon Perlman, Mordechai Shohat, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifaat Agmon-Fishman, Reut Tomashov Matar, Lina Basel-Salmon, Rivka Sukenik-Halevy
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 8, p 2602 (2020)
Copy number variations of the 15q11.2 region at breakpoints 1-2 (BP1-BP2) have been associated with variable phenotypes and low penetrance. Detection of such variations in the prenatal setting can result in significant parental anxiety. The clinical
Externí odkaz:
https://doaj.org/article/6a86bd31bdc54175a652fae6a502e0b1
Publikováno v:
Journal of Perinatal Medicine.
For decades, prenatal screening and genetic testing strategies were limited, requiring less complex decisions. Recently, however, several new advanced technologies were introduced, including chromosomal microarray analysis (CMA) and non-invasive pren
Autor:
Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A.J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M.E. Suzanne Lewis, Angie Lichty, Marcel M.A.M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema
Publikováno v:
Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group
Contains fulltext : 290808.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e9527bbc3853240983032791841559
https://repository.ubn.ru.nl/handle/2066/290808
https://repository.ubn.ru.nl/handle/2066/290808
Autor:
Lena Sagi-Dain, Idit Maya, Michal Feingold-Zadok, Shay Ben Shachar, Amihood Singer, Anat Bar-Shira, Tzipora C. Falik-Zaccai, Amir Peleg
Publikováno v:
Archives of Gynecology and Obstetrics. 304:649-656
To analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios. Data from all chromosomal microarray analyses (CMA) performed due to polyhydramnios between January 2013 and December 2019 were retrospectively
Autor:
Yael Goldberg, Noa Ruhrman-Shahar, Rivka Sukenik-Halevy, Noy Azulay, Idit Maya, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Lina Basel-Salmon, Ofir Hagari, Nurit Magal, Lily Bazak, Naama Orenstein, Gabriel Arie Lidzbarsky
Publikováno v:
Genetics in Medicine. 23:215-221
PURPOSE Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in proband's family members might impact exome data interpretation. METHODS Of 614 exomes
Autor:
Naama Oresntein, Arie Koifman, Efrat Sofrin-Drucker, Adi Reches, Noa Rhurman-Shahar, Gal Zaks-Hoffer, Nurit Magal, Doron M. Behar, Yael Goldberg, Daphna Marom, Mordechai Shohat, Lina Basel-Salmon, Noa Shefer Averbuch, Lily Bazak, Reut Matar, Sagi Josefberg, Nesia Kropach-Gilad, Rachel Michaelson-Cohen, Rivka Sukenik-Halevy, Avi Fellner, Liat Salzer-Sheelo, Monika Weiss-Hubshmann, Idit Maya
Publikováno v:
Genetics in Medicine. 22:1703-1709
Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model. We assessed the 5-day, extended format progr
Autor:
Pola Smirin-Yosef, Mordechai Shohat, Shiri Yacobson, Elisheva Bitton, Reut Matar, Ifaat Agmon-Fishman, Mali Salmon-Divon, Lina Basel-Salmon, Sne Morag, Sarit Kahana, Idit Maya
Publikováno v:
Human Genetics. 140:553-563
The population of Israel is ethnically diverse, and individuals from different ethnic groups share specific genetic variations. These variations, which have been passed on from common ancestors, are usually reported in public databases as rare varian
Autor:
Amihood Singer, Morad Khayat, Rachel Michaelson-Cohen, Hagit Daum, Lena Sagi-Dain, Keren Tzadikevitch Geffen, Shay Ben-Shachar, Rivka Sukenik Halevy, Michal Feingold-Zadok, Idit Maya
Publikováno v:
Archives of Gynecology and Obstetrics. 303:85-92
To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with fetal short long bones diagnosed by ultrasound. The study cohort was based on cases of chromosomal mi
Autor:
Morad Khayat, Yael Pasternak, Rivka Sukenik Halevy, Sharon Zeligson, Shay Ben-Shachar, Amihood Singer, Lena Sagi-Dain, Michal Feingold-Zadok, Lior Greenbaum, Idit Maya
Publikováno v:
Journal of Perinatal Medicine. 48:553-558
Objectives Chromosomal microarray analysis (CMA) is the method of choice for genetic work-up in cases of fetal malformations. We assessed the detection rate of CMA in cases of abnormal fetal head circumference (HC). Methods The study cohort was based