Zobrazeno 1 - 10 of 60 pro vyhledávání: '"Reeval, Segel"'
1
Akademický článek
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing
Autor: Daniel Backenroth, Gheona Altarescu, Fouad Zahdeh, Tzvia Mann, Omer Murik, Paul Renbaum, Reeval Segel, Sharon Zeligson, Elinor Hakam-Spector, Shai Carmi, David A. Zeevi
Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Recent advances in genomic technologies expand the scope and efficiency of preimplantation genetic testing (PGT). We previously developed Haploseek, a clinically-validated, variant-agnostic comprehensive PGT solution. Haploseek is based on m
Externí odkaz: https://doaj.org/article/69a704d99591414cb15f84c5e26fb2de
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2
Akademický článek
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype
Autor: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann
Publikováno v: Frontiers in Neurology, Vol 11 (2020)
Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TA
Externí odkaz: https://doaj.org/article/0d2a822147c14b50947f4f220e1b67cb
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3
Akademický článek
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Autor: Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott
Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dys
Externí odkaz: https://doaj.org/article/6eab3bb9f75d4cc9bb50e592a22f156a
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4
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population
Autor: Tal Freund, Sarah K. Baxter, Tom Walsh, Hana Golan, Joseph Kapelushnik, Michal Abramsohn-Goldenberg, Shira Benor, Nadav Sarid, Ron Ram, Yifat Alcalay, Reeval Segel, Paul Renbaum, Polina Stepensky, Mary-Claire King, Troy R. Torgerson, David Hagin
Publikováno v: Journal of Clinical Immunology. 43:151-164
Pathogenic variants in LRBA, encoding the LPS Responsive Beige-Like Anchor (LRBA) protein, are responsible for recessive, early-onset hypogammaglobulinemia, severe multi-organ autoimmunity, and lymphoproliferation, with increased risk for malignancy.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f350bdb680d1fe2079e01a3345208412
https://doi.org/10.1007/s10875-022-01358-7
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5
Akademický článek
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6
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements
Autor: Rachel Michaelson-Cohen, Omer Murik, Sharon Zeligson, Orit Lobel, Omri Weiss, Elie Picard, Tzvia Mann, Hagar Mor-Shaked, David A. Zeevi, Reeval Segel
Publikováno v: Molecular Genetics and Genomics. 297:925-933
Complex chromosomal rearrangements (CCRs), a class of structural variants (SVs) involving more than two chromosome breaks, were classically thought to be extremely rare. As advanced technologies become more available, it has become apparent that CCRs
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e0c70f97f41c5fca01a72867851d99
https://doi.org/10.1007/s00438-022-01898-y
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7
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
Autor: Alla Kuzminsky, Liora Sagi, Adi Aran, Luba Blumkin, Tehila Klopstock, Dorit Lev, Dafna Guttman, Lilach Shemer Meiri, Reeval Segel, Suleyman Gulsuner, Michal Yechieli, Mary Claire King, Varda Gross-Tsur, Aviva Fattal, Paul Renbaum, Hilla Ben-Pazi, Ephrat Lahad Levy, Sharon Zeligson, Nira Schneebaum Sender, Dorit Shmueli, Thomas J. Walsh, Amnon Lahad
Publikováno v: Journal of Medical Genetics. 59:759-767
ObjectiveTo determine the yield of genetic diagnoses using chromosomal microarray (CMA) and trio whole exome sequencing (WES), separately and combined, among patients with cryptogenic cerebral palsy (CP).MethodsTrio WES of patients with prior CMA ana
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38651cbf030aa40871531f9535a83b74
https://doi.org/10.1136/jmedgenet-2021-107884
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8
Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing
Autor: Elinor Hakam-Spector, Tzvia Mann, Gheona Altarescu, Shai Carmi, Paul Renbaum, Fouad Zahdeh, Adi Ben-Yehuda, Reeval Segel, David A. Zeevi, Ido Ben-Ami, Daniel Backenroth, Talia Eldar-Geva, Sharon Zeligson
Publikováno v: Genetics in Medicine. 23:1334-1340
Purpose We previously developed Haploseek, a method for comprehensive preimplantation genetic testing (PGT). However, some key features were missing, and the method has not yet been systematically validated. Methods We extended Haploseek to incorpora
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5f16a2f5627410208f0a9dff5b54fd38
https://doi.org/10.1038/s41436-021-01145-6
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9
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
Autor: Gheona Altarescu, Shira Shaviv, Talia Eldar-Geva, Sharon Zeligson, Naama Srebnik Moshe, Orit Freireich, Omri Weiss, Keren Rotshenker-Olshinka, Reeval Segel
Publikováno v: J Assist Reprod Genet
PURPOSE: To review cases of couples presented to our PGT-unit with copy number variants (CNVs) classified as variants of uncertain significance (VUS) in order to better understand their needs. METHODS: Retrospective cohort study conducted in a tertia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa56155af53033d20bf2562f6ba8c547
https://doi.org/10.1007/s10815-020-02055-3
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