Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Caroline Schluth-Bolard"'
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:
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:
Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations fo
Externí odkaz:
https://doaj.org/article/ae56b6265fa24c479aa4aa6363b6a984
Autor:
Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Publikováno v:
PLoS Genetics, Vol 10, Iss 9, p e1004580 (2014)
SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of
Externí odkaz:
https://doaj.org/article/baff5fce8b7e495e86bb1abb116c6895
Autor:
Philippe Joly, Caroline Schluth-Bolard, Philippe Lacan, Claire Barro, Serge Pissard, Audrey Labalme, Damien Sanlaville, Catherine Badens
Publikováno v:
Haematologica, Vol 98, Iss 1 (2013)
Externí odkaz:
https://doaj.org/article/34ef3a4b0fd4496986553d0ae4b600d9
Autor:
Chloé Tessereau, Monique Buisson, Nastasia Monnet, Marine Imbert, Laure Barjhoux, Caroline Schluth-Bolard, Damien Sanlaville, Emmanuel Conseiller, Maurizio Ceppi, Olga M Sinilnikova, Sylvie Mazoyer
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76054 (2013)
Although the breast cancer susceptibility gene BRCA1 is one of the most extensively characterized genetic loci, much less is known about its upstream variable number tandem repeat element, the RNU2 locus. RNU2 encodes the U2 small nuclear RNA, an ess
Externí odkaz:
https://doaj.org/article/32cf0e96e18a44699293ecf8e88416cd
Autor:
Nausica Arnoult, Caroline Schluth-Bolard, Anne Letessier, Irena Drascovic, Rachida Bouarich-Bourimi, Judith Campisi, Sahn-Ho Kim, Amina Boussouar, Alexandre Ottaviani, Frédérique Magdinier, Eric Gilson, Arturo Londoño-Vallejo
Publikováno v:
PLoS Genetics, Vol 6, Iss 4, p e1000920 (2010)
The mechanisms governing telomere replication in humans are still poorly understood. To fill this gap, we investigated the timing of replication of single telomeres in human cells. Using in situ hybridization techniques, we have found that specific t
Externí odkaz:
https://doaj.org/article/3e341172847d40159be7b61dc626ac57
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:
Malek Bouassida, Matthieu Egloff, Jonathan Levy, Nicolas Chatron, Laura Bernardini, Gwenaël Le Guyader, Anne-Claude Tabet, Caroline Schluth-Bolard, Francesco Brancati, Maria Grazia Giuffrida, Rodolphe Dard, Juliette Clorennec, Juliette Coursimault, François Vialard, Bérénice Hervé
Publikováno v:
European Journal of Human Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d439f0556d9b1ae7280f9ae1a933e4e5
https://doi.org/10.1038/s41431-023-01379-9
https://doi.org/10.1038/s41431-023-01379-9
Autor:
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis‐Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth‐Bolard, Carole Goumy, Sylvia Redon, Jean‐Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne‐Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 2023, ⟨10.1002/pd.6340⟩
Prenatal Diagnosis, 2023, ⟨10.1002/pd.6340⟩
International audience; Objective: We aimed to gather fetal cases carrying a 7q11.23 copy number variation (CNV) and collect precise clinical data to broaden knowledge of antenatal features in these syndromes.Methods: We retrospectively recruited unr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2298cfc427024007f848f111933c8ba8
https://hal-u-picardie.archives-ouvertes.fr/hal-04032330
https://hal-u-picardie.archives-ouvertes.fr/hal-04032330
