Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Caroline Bénech"'
Autor:
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d3a51772819dc5fee7d4ce45602927
https://pubmed.ncbi.nlm.nih.gov/36369750
https://pubmed.ncbi.nlm.nih.gov/36369750
Autor:
Caroline Bénech, Christine Guerry, Laurence Le Glatin, Christine Duclos, Rémi Beloeil, Yann Fichou
Publikováno v:
Transfusion. 62
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dacfd09f43a31f4a8125c73ccf3aa0a8
https://doi.org/10.1111/trf.17044
https://doi.org/10.1111/trf.17044
Autor:
Pornlada, Nuchnoi, Jairak, Thongbut, Caroline, Bénech, Pawinee, Kupatawintu, Dootchai, Chaiwanichsiri, Claude, Férec, Yann, Fichou
Publikováno v:
Blood Transfus
BACKGROUND: Discriminating individuals with “Asian type DEL” from those who are “true D-negative” (D−) among serologically D− donors/patients in Asia would be very valuable, as clinical outcomes are different in these groups. Here we inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::360be48213ad3e9922a0d5dd82c815a4
https://pubmed.ncbi.nlm.nih.gov/36346882
https://pubmed.ncbi.nlm.nih.gov/36346882
Autor:
Tatiane A, de Paula Vendrame, Carine P, Arnoni, Flavia R M, Latini, Afonso J, Pereira Cortez, Caroline, Bénech, Yann, Fichou, Lilian, Castilho
Publikováno v:
Blood Transfus
BACKGROUND: Hybrid genes are responsible for the formation of Rh variants and are common in patients with sickle cell disease (SCD). However, it is not usually possible to detect them by conventional molecular protocols. In the present study, hybrid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a5410384ea0f6e11798e2685c3f4bf
https://pubmed.ncbi.nlm.nih.gov/35848626
https://pubmed.ncbi.nlm.nih.gov/35848626
Autor:
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)
Abstract Background Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation ha
Externí odkaz:
https://doaj.org/article/a0957b4159c64ec8b85c8227ab117a02
Autor:
Yann, Fichou, Cédric, Le Maréchal, Laurence, Bryckaert, Christine, Guerry, Caroline, Bénech, Isabelle, Dupont, Déborah, Jamet, Claude, Férec, Jian-Min, Chen
Publikováno v:
Transfusion. 52(4)
A considerable number of RHD alleles responsible for weak and partial D phenotypes have been identified over the past decade. Two particular concerns, namely, 1) that red blood cells of these phenotypes may cause anti-D immunization when transfused t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5ea83038b966f737c5faad0f82b0b3f6
https://pubmed.ncbi.nlm.nih.gov/21950494
https://pubmed.ncbi.nlm.nih.gov/21950494
Autor:
Marie-Lise Quillé, Solenne Carat, Sylvia Quéméner-Redon, Edouard Hirchaud, Daniel Baron, Caroline Benech, Jeanne Guihot, Morgane Placet, Olivier Mignen, Claude Férec, Rémi Houlgatte, Gaëlle Friocourt
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e25181 (2011)
Genetic investigations of X-linked intellectual disabilities have implicated the ARX (Aristaless-related homeobox) gene in a wide spectrum of disorders extending from phenotypes characterised by severe neuronal migration defects such as lissencephaly
Externí odkaz:
https://doaj.org/article/6a2df5e0c1a84f3cad42a19d62594d09