Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Pierre Antoine Rollat Farnier"'
Autor:
Alain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, Stéphane Pinson, Abderrazzaq Bentaher, Serge Lebecque, Harriet Corvol, Rola Abou Taam, Véronique Houdouin, Claire Bardel, Pascal Roy, Gilles Devouassoux, Vincent Cottin, Pascal Seve, Jean-François Bernaudin, Clarice X. Lim, Thomas Weichhart, Dominique Valeyre, Yves Pacheco, Annick Clement, Nadia Nathan, in the frame of GSF (Groupe Sarcoïdose France)
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-19 (2018)
Abstract Background Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To find out relevant sarco
Externí odkaz:
https://doaj.org/article/4056fb49f80d4471b504aa3aa69fdf58
Autor:
Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)
Abstract Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness and social di
Externí odkaz:
https://doaj.org/article/11f492c26ac74b05ad0d3a1140c45abd
Autor:
Julie Masson, Céline Pebrel‐Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Kevin Uguen, Pierre‐Antoine Rollat‐Farnier, Flavie Diguet, Isabelle Perthus, Gwenaël Le Gudayer, Damien Haye, Marie‐Noëlle Bonnet Dupeyron, Audrey Putoux, Fabienne Raskin‐Champion, Marianne Till, Nicolas Chatron, Bérénice Doray, Claire Bardel, Christine Vinciguerra, Damien Sanlaville, Caroline Schluth‐Bolard
Publikováno v:
Clinical Genetics. 103:401-412
Chromoanagenesis are complex chromosomal rearrangements that are supposed to occur during a single catastrophic event. They may result in loss or gain of genetic material and may be responsible for various phenotypes. These rearrangements are usually
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d085136b287e8ea95ad8394c467a1a
https://doi.org/10.1111/cge.14291
https://doi.org/10.1111/cge.14291
Autor:
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencin
Externí odkaz:
https://doaj.org/article/2bc4ee64a0974d0d8733a52a9dd35fe4
Autor:
Xavier Vanhoye, Claire Bardel, Antoine Rimbert, Philippe Moulin, Pierre-Antoine Rollat-Farnier, Manon Muntaner, Oriane Marmontel, Sabrina Dumont, Sybil Charrière, François Cornélis, Pierre Henri Ducluzeau, Annie Fonteille, Estelle Nobecourt, Noël Peretti, Franck Schillo, Matthieu Wargny, Bertrand Cariou, Aline Meirhaeghe, Mathilde Di Filippo
Publikováno v:
Translational research : the journal of laboratory and clinical medicine.
Genetic diagnosis of familial hypercholesterolemia (FH) remains unexplained in 30 to 70% of patients after exclusion of monogenic disease. There is now a growing evidence that a polygenic burden significantly modulates LDL-cholesterol (LDL-c) concent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ec981dbf92714de1a59a8ea88152c3
https://pubmed.ncbi.nlm.nih.gov/36528340
https://pubmed.ncbi.nlm.nih.gov/36528340
Autor:
Julie Masson, Linda Pons, Tiffany Busa, Chantal Missirian, Matthew Lines, Hélène Tevissen, Flavie Diguet, Pierre-Antoine Rollat-Farnier, Gaétan Lesca, Damien Sanlaville, Caroline Schluth-Bolard
Publikováno v:
European journal of medical genetics. 65(4)
TCF4 gene (18q21.1) encodes for a transcription factor with multiple isoforms playing a critical role during neurodevelopment. Molecular alterations of this gene are associated with Pitt-Hopkins syndrome, a severe condition characterized by intellect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::260b7c1132ca2dd423321d8a0564dca5
https://pubmed.ncbi.nlm.nih.gov/35189377
https://pubmed.ncbi.nlm.nih.gov/35189377
Autor:
Patrick Edery, Flavie Diguet, Mathilde Fretigny, Claire Bardel, Audrey Labalme, Yohann Jourdy, Marie-Laure Mathieu, Caroline Schluth-Bolard, Pierre-Antoine Rollat-Farnier, Christine Vinciguerra, Damien Sanlaville
Publikováno v:
Haemophilia : the official journal of the World Federation of HemophiliaREFERENCES. 28(1)
Introduction Depending on the location of insertion of the gained region, F8 duplications can have variable clinical impacts from benign impact to severe haemophilia A phenotype. Aim To characterize two large Xq28 duplications involving F8 incidental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c751f13fa049da6b32bd4b748e7dfb5d
https://pubmed.ncbi.nlm.nih.gov/34480810
https://pubmed.ncbi.nlm.nih.gov/34480810
Autor:
Richard Redon, Pierre Lindenbaum, Denis Duboule, Flavie Diguet, Annaig Briand, André Mégarbané, Christian Bonnard, Caroline Schluth-Bolard, Cédric Le Caignec, Damien Sanlaville, Marie-Laure Vuillaume, Olivier Pichon, Benoît de Courtivron, Pierre-Antoine Rollat-Farnier, Marta Sanchez-Castro, Annick Toutain
Publikováno v:
Eur J Hum Genet
The HoxD cluster is critical for vertebrate limb development. Enhancers located in both the telomeric and centromeric gene deserts flanking the cluster regulate the transcription of HoxD genes. In rare patients, duplications, balanced translocations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::927109b1dcc8ee33741567a903fbbbe3
https://doi.org/10.1038/s41431-019-0522-2
https://doi.org/10.1038/s41431-019-0522-2
Autor:
Audrey Labalme, Nicolas Chatron, Mohamed Bakloul, Julia Mitchell, Olivier Metton, Flavie Diguet, Damien Sanlaville, Caroline Schluth-Bolard, Patrice Bouvagnet, Adrien Buisson, Linda Pons, Pierre-Antoine Rollat-Farnier, Sylvie Di Filippo
Publikováno v:
Molecular Syndromology. 10:209-213
Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype. We report herein the case of a 4-year-old boy presenting with clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcc43fedb46333521c216255298be4c7
https://doi.org/10.1159/000500215
https://doi.org/10.1159/000500215
Autor:
Caroline Schluth-Bolard, Danny E. Miller, Marie-Noelle Bonnet-Dupeyron, Carl Baker, Alexandre Reymond, Evan E. Eichler, Damien Sanlaville, Katherine M. Munson, Nicolas Chatron, Glennis A. Logsdon, Pierre-Antoine Rollat-Farnier, Giuliana Giannuzzi, Julie Reversat, Kendra Hoekzema
Human centromeres are mainly composed of alpha satellite DNA hierarchically organized as higher-order repeats (HORs). Alpha satellite dynamics is shown by sequence homogenization in centromeric arrays and by its transfer to other centromeric location
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bdc786cb18a79ad3c5e9243759db6dd
https://doi.org/10.1101/2021.03.10.434819
https://doi.org/10.1101/2021.03.10.434819
