Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Gidon Akler"'
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Autor:
Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
Abstract Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular coloboma,
Externí odkaz:
https://doaj.org/article/a8c8b36507974d6a83c24a422501bd60
Autor:
Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wid
Externí odkaz:
https://doaj.org/article/6d3ee0c27468471986227a368547920f
Autor:
Gidon Akler, Ashley H. Birch, Nicole Schreiber‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
The cover image is based on the Original Article Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients by Gidon Akler et al., https://doi.org/10.1002/mgg3.1053. [Image: see te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e283b3feb4366124461802cc7aae1119
https://europepmc.org/articles/PMC7005609/
https://europepmc.org/articles/PMC7005609/
Autor:
Geetu Mendiratta‐Vij, Xiaoqiang Cai, Lisong Shi, Mitchell W Dillon, Guiqing Cai, Andrew S McLellan, Ashley H. Birch, Funda E. Suer, Anastasia M. Larmore, Lisa Edelmann, Gidon Akler, Eric E. Schadt, Bryn D. Webb, Nicole Schreiber‐Agus, Chunli Yu, Jun Zhu, Lama Elkhoury, Ruth Kornreich
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Background Next‐generation sequencing (NGS)‐based panels have gained traction as a strategy for reproductive carrier screening. Their value for screening Ashkenazi Jewish (AJ) individuals, who have benefited greatly from population‐wide targete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a1b70179958dfb7e378d4953cafdb7
http://europepmc.org/articles/PMC7005669
http://europepmc.org/articles/PMC7005669
Autor:
Ifat Sarouk, Huda Mussaffi, Dario Prais, Bat El Bar Aluma, Meir Mei-Zahav, Lea Bentur, Soliman Alkrinawi, Galit Livnat, Elie Picard, Malena Cohen-Cymberknoh, Ori Efrati, Moshe Ashkenazi, Patrick Stafler, Ori Inbar, Michal Shteinberg, Micha Aviram, Michal Gur, Hannah Blau, Fahed Hakim, David Shoseyov, Concetta Bormans, Joseph Rivlin, Eitan Kerem, Adi Dagan, Amihood Singer, Doron M. Behar, Gidon Akler
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b4f50d21d2ecc24fe65289fe060af4
https://doi.org/10.1002/mgg3.278
https://doi.org/10.1002/mgg3.278
Autor:
Gidon Akler, Robert Rapaport, Genna W. Klein, Nanda Kerkar, Tamir Miloh, Ronen Arnon, Sander Florman, Rachel A. Annunziato, Fenella Greig
Publikováno v:
Pediatric Transplantation. 17:27-33
Studies of DALT in pediatric recipients describe incidence and risk factors, but diagnostic criteria varied. This study reports characteristics and course of pediatric DALT by established diabetes criteria. Retrospective chart review of pediatric LT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1af986562c70f3ecce08b3baba390f06
https://doi.org/10.1111/j.1399-3046.2012.01779.x
https://doi.org/10.1111/j.1399-3046.2012.01779.x
Autor:
Fenella, Greig, Robert, Rapaport, Genna, Klein, Gidon, Akler, Rachel, Annunziato, Tamir, Miloh, Ronen, Arnon, Sander, Florman, Nanda, Kerkar
Publikováno v:
Pediatric transplantation. 17(1)
Studies of DALT in pediatric recipients describe incidence and risk factors, but diagnostic criteria varied. This study reports characteristics and course of pediatric DALT by established diabetes criteria. Retrospective chart review of pediatric LT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0da3225548717bd8cf5d1b6489ae6b0a
https://pubmed.ncbi.nlm.nih.gov/23157421
https://pubmed.ncbi.nlm.nih.gov/23157421
Publikováno v:
The Israel Medical Association journal : IMAJ. 12(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::edce5e70baf4f64b39ea7d75fbea98d8
https://pubmed.ncbi.nlm.nih.gov/20550038
https://pubmed.ncbi.nlm.nih.gov/20550038
Publikováno v:
Thyroid. 20:947-948
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d5818435660b649128bf475e2f897c4e
https://doi.org/10.1089/thy.2010.1656
https://doi.org/10.1089/thy.2010.1656
Publikováno v:
Thyroid; Sep2010, Vol. 20 Issue 9, p947-948, 2p