Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Patrick Callier"'
Autor:
Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Laurence Faivre, Patrick Callier, Caroline Racine, Lawrence C. Layman, Il-Keun Kong, Cheol-Hee Kim, Woo-Yang Kim, Hyung-Goo Kim
Publikováno v:
Frontiers in Molecular Neuroscience. 15
Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb c
Autor:
Frederic Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Orphanomix Physician’s Group, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Hana Safraou, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES. We applied an innovative parental DNA poo
Autor:
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100812-(2021)
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspe
Autor:
Virginie Carmignac, David Vandroux, Nathalie Droin, Patrick Callier, Guillaume Meurice, Laurence Faivre, Noémie Pata-Merci, Romaric Loffroy, Christel Thauvin-Robinet, Ange-Line Bruel, Romain Da Costa, Julien Thevenon, Olivier Bouchot, Laurence Duplomb, Eric Solary
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
IF 5.340; International audience; The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die p
Autor:
Magali Tournaire, Yuri Musizzano, E Mousty, Patrick Callier, Anouck Schneider, Carole Corsini, Vincent Gatinois, Emmanuelle Haquet, Nicole Bigi, Jean-Baptiste Gaillard, Geneviève Lefort, Franck Pellestor, Clémence Ragon, David Geneviève, Patricia Blanchet, Jacques Puechberty, Jean Chiesa, Lucile Pinson, Marie-Josée Perez
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 2019, 7 (11), pp.e00895. ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (11), ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, 2019, 7 (11), pp.e00895. ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (11), ⟨10.1002/mgg3.895⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
BACKGROUND: Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61cd15b3709ca26efa2c8ef5dc6afc20
https://hal.umontpellier.fr/hal-02562012
https://hal.umontpellier.fr/hal-02562012
Autor:
Pierre Vabres, Yannis Duffourd, Tisserant, Laurence Faivre, V. Carmignac, Christel Thauvin-Robinet, Arthur Sorlin, Patrick Callier, Julien Thevenon, Paul Kuentz, J.-B. Rivière
Publikováno v:
Journal of Investigative Dermatology
International Investigative Dermatology (IID) Meeting
International Investigative Dermatology (IID) Meeting, May 2018, Orlando, United States. pp.S133, ⟨10.1016/j.jid.2018.03.792⟩
International Investigative Dermatology (IID) Meeting
International Investigative Dermatology (IID) Meeting, May 2018, Orlando, United States. pp.S133, ⟨10.1016/j.jid.2018.03.792⟩
IF 6.448 (2017); International audience
Autor:
Eric Bieth, Alice Masurel-Paulet, Bernard Aral, Nadège Gigot, Brunella Franco, Anne Donzel, Mario Tosi, Lionel Van Maldergem, Elodie Gautier, Frédéric Huet, Laurence Faivre, Jean-Raymond Teyssier, Ahmad S. Teebi, Pascale Saugier-Veber, Patrick Callier, Valérie Layet, Thierry Frebourg, James Lespinasse, Francine Mugneret, Christel Thauvin-Robinet, Michèle Mathieu
Publikováno v:
Human Mutation. 30:E320-E329
Oral-facial-digital type I syndrome (OFDI) is characterised by an X-linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, dental and distal abnormalities, polycystic kidney disease and ce
Autor:
Stylianos E. Antonarakis, Christel Thauvin-Robinet, Marilyn D. Resh, Laurence Faivre, Sandy Lambert, Isabelle Stévant, Christèle Desdoits-Lethimonier, Hiroshi Kurosaka, Paul A. Trainor, Federico Santoni, Christelle Borel, Bernard Jégou, Armine Matevossian, Antoine Rolland, Serge Nef, Frédéric Huet, Pierre Calvel, Françoise Kühne, Jadwiga Jaruzelska, Béatrice Conne, Patrick Callier, Séverine Mazaud-Guittot, Periklis Makrythanasis, Pascal Bernard, Céline Zimmermann, Michel Guipponi, Anne Vannier, Dagmar Wilhelm, Francine Mugneret
Publikováno v:
PLoS Genet, vol. 10, no. 5, pp. e1004340
PLoS Genetics
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLOS Genetics, Vol. 10, No 5 (2014) P. e1004340
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. 〈10.1371/journal.pgen.1004340〉
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLoS Genetics
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
PLOS Genetics, Vol. 10, No 5 (2014) P. e1004340
PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. 〈10.1371/journal.pgen.1004340〉
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
PLoS Genetics, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multime
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18fd6b266f4ab586b836727c4f09cfaa
https://serval.unil.ch/resource/serval:BIB_359C54BAB25D.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_359C54BAB25D.P001/REF.pdf
Autor:
N. Lemeur, G. Bourrouillou, Véronique Satre, Muriel Payet, Anouck Schneider, B. Quilichini, Thierry Rousseau, A. Liquier, Jacques Puechberty, François Vialard, S. Fert Ferrer, D. Molina Gomes, S. Amblard, Patrick Callier, Martine Doco-Fenzy, H. Stora, Marie-Pierre Cordier, Nathalie Marle, Brigitte Simon-Bouy, Joris Andrieux, Laurence Faivre, A. L. Mosca, Azzedine Aboura, Florence Fellmann, F. Girard-Lemaire, Danielle Martinet, Pascal Chambon, A. Delaye, Damien Sanlaville, M. Becker, Elisabeth Flori, C. Rangon, Sébastien Jacquemont, Anne Bazin, V. Kremer, Eva Pipiras, R. Molignier, F. Mugneret, Géraldine Joly-Helas, Serge Aho, A. Vigouroux-Castera, Anne-Claude Tabet
Publikováno v:
Clinical genetics. 85(3)
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content i
Autor:
Anne H. Child, Christophe Béroud, Catherine Boileau, Jaime Sanchez del Pozo, Julie De Backer, Cyril Goizet, Jeanne Amiel, Lesley C. Adès, Pierre Vabres, Anne De Paepe, Julien Thevenon, Laurence Duplomb, Katherine Holman, Christel Thauvin-Robinet, Clarisse Baumann, Frédéric Huet, Ghislaine Plessis, Gwenaëlle Collod-Béroud, Bert Callewaert, Eloisa Arbustini, Henri Plauchu, Bernard Aral, Peter N. Robinson, Sophie Julia, Jean Baptiste Rivière, Valérie Cormier-Daire, Gavin Arno, Nadège Gigot, Marjolijn Renard, Lucie Gueneau, Guillaume Jondeau, Patrick Callier, Jean Benoît Courcet, Maja Di Rocco, Laurence Faivre, Virginie Carmignac, Estelle Lopez, Maurizia Grasso
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
International audience; Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4240c41e9ce258a7c24b5f040116e571
https://hal.archives-ouvertes.fr/hal-01670135/document
https://hal.archives-ouvertes.fr/hal-01670135/document