Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Concetta Bormans"'
Autor:
Doron M. Behar, Lina Basel-Vanagaite, Fabian Glaser, Marielle Kaplan, Shay Tzur, Nurit Magal, Tal Eidlitz-Markus, Yishay Haimi-Cohen, Galit Sarig, Concetta Bormans, Mordechai Shohat, Avraham Zeharia
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 2, Pp 307-312 (2014)
Congenital pancreatic lipase (PNLIP) deficiency is a rare monoenzymatic form of exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state o
Externí odkaz:
https://doaj.org/article/136cc1f21a804f50adb5be8f6ad38c9b
Autor:
Ephrat Levy-Lahad, Daniel Au, Concetta Bormans, Moshe Einhorn, Yuval Porat, Brent Manning, Arjan Bormans, Luisa Fernanda Sanchez, Hila Fridman, Doron M. Behar
Publikováno v:
Molecular Genetics and Genomics. 296:653-663
Next generation sequencing tests are used routinely as first-choice tests in the clinic. However, systematic performance comparing the results of exome sequencing as a single test replacing Sanger sequencing of targeted gene(s) is still lacking. Perf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1aaf45e9485c8ae46368e50496a1cd01
https://doi.org/10.1007/s00438-021-01772-3
https://doi.org/10.1007/s00438-021-01772-3
Autor:
T. Lerman Sagie, M. Weisz-Hubshman, Eri Imagawa, Alvit Veber, E. Banne, Naomichi Matsumoto, H. Meirson, Gali Heimer, Dorit Lev, S. Modai, Lina Basel-Salmon, Annick Raas-Rothschild, Dina Marek-Yagel, Osnat Konen, Nechama Shalva, Concetta Bormans, R. Michaelson-Cohen, Bruria Ben-Zeev, R. Beeri, Y. Shilon, Noam Shomron, Doron M. Behar, Shay Tzur, Naama Orenstein
Publikováno v:
European Journal of Paediatric Neurology. 23:418-426
The human WW Domain Containing Oxidoreductase (WWOX) gene was originally described as a tumor suppressor gene. However, recent reports have demonstrated its cardinal role in the pathogenesis of central nervous systems disorders such as epileptic ence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c490b16d1844fc6ee6685a14f688e0e3
https://doi.org/10.1016/j.ejpn.2019.02.003
https://doi.org/10.1016/j.ejpn.2019.02.003
Autor:
Doron M. Behar, Francesco Montinaro, Helen Post, Richard Villems, Mayukh Mondal, Lauri Saag, Ulf Gyllensten, Hovhannes Sahakyan, Monika Karmin, Anne-Mai Ilumäe, Mart Kals, Luca Pagani, Concetta Bormans, Adam Ameur, Rodrigo Flores, Reedik Mägi, Siiri Rootsi, Luisa Fernanda Sanchez
Publikováno v:
Eur J Hum Genet
The most frequent Y-chromosomal (chrY) haplogroups in northern and eastern Europe (NEE) are well-known and thoroughly characterised. Yet a considerable number of men in every population carry rare paternal lineages with estimated frequencies around 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52bd4f0bfed8855ca008977584f57a70
http://hdl.handle.net/11577/3390030
http://hdl.handle.net/11577/3390030
Autor:
Hila, Fridman, Concetta, Bormans, Moshe, Einhorn, Daniel, Au, Arjan, Bormans, Yuval, Porat, Luisa Fernanda, Sanchez, Brent, Manning, Ephrat, Levy-Lahad, Doron M, Behar
Publikováno v:
Molecular genetics and genomics : MGG. 296(3)
Next generation sequencing tests are used routinely as first-choice tests in the clinic. However, systematic performance comparing the results of exome sequencing as a single test replacing Sanger sequencing of targeted gene(s) is still lacking. Perf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::138906125a3e349ef158fec9e4ca8a55
https://pubmed.ncbi.nlm.nih.gov/33694043
https://pubmed.ncbi.nlm.nih.gov/33694043
Autor:
Daniel Au, Hila Fridman, Brent Manning, Moshe Einhorn, Arjan Bormans, Concetta Bormans, Luisa Fernanda Sanchez, Doron M. Behar, Ephrat Levy-Lahad, Yuval Porat
Systematic performance comparing the results of exome-sequencing as a single test replacing Sanger-sequencing of targeted gene(s) is still lacking. In this study we compared Sanger-sequencing results of 258 genes to those obtained from next generatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::401c614bcd19251cae637b4337f72b6a
https://doi.org/10.1101/2020.11.29.400853
https://doi.org/10.1101/2020.11.29.400853
Autor:
Peter Novak, Matthew J. Hamilton, Mariana Castells, Emily Weller, Concetta Bormans, Matthew P. Giannetti
Publikováno v:
Annals of allergy, asthmaimmunology : official publication of the American College of Allergy, Asthma,Immunology. 126(6)
Background Hereditary alpha-tryptasemia (HαT) is an autosomal dominant genetic trait characterized by multiple copies of the alpha-tryptase gene at the TPSAB1 locus. Previously described symptomatology involves multiple organ systems and anaphylaxis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639f7449f0e73150bc2c5941571dfbd0
https://pubmed.ncbi.nlm.nih.gov/33465452
https://pubmed.ncbi.nlm.nih.gov/33465452
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:
Carlos López-Otín, Chana Vinkler, Meytal Landau, Ana Gutiérrez-Fernández, Xose S. Puente, Shai Marcu, Doron M. Behar, Mordechai Shohat, Eyal Reinstein, Dana Irge, Einav Tayeb-Fligelman, Shay Tzur, Annick Raas-Rothschild, Concetta Bormans
Publikováno v:
European Journal of Human Genetics. 24:1792-1796
In the vast majority of pediatric patients with dilated cardiomyopathy, the specific etiology is unknown. Studies on families with dilated cardiomyopathy have exemplified the role of genetic factors in cardiomyopathy etiology. In this study, we appli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62005c494373c8171e9b721b860a74e6
https://doi.org/10.1038/ejhg.2016.110
https://doi.org/10.1038/ejhg.2016.110
Publikováno v:
European Journal of Human Genetics. 24:1635-1638
Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ed9f487e45392c32abba61409fb8c4
https://doi.org/10.1038/ejhg.2016.72
https://doi.org/10.1038/ejhg.2016.72