Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Nicolas Gruchy"'
Autor:
Abdelkader Heddar, Cagri Ogur, Sabrina Da Costa, Inès Braham, Line Billaud-Rist, Necati Findikli, Claire Beneteau, Rachel Reynaud, Khaled Mahmoud, Stéphanie Legrand, Maud Marchand, Isabelle Cedrin-Durnerin, Adèle Cantalloube, Maeliss Peigne, Marion Bretault, Benedicte Dagher-Hayeck, Sandrine Perol, Celine Droumaguet, Sabri Cavkaytar, Carole Nicolas-Bonne, Hanen Elloumi, Mohamed Khrouf, Charlotte Rougier-LeMasle, Melanie Fradin, Elsa Le Boette, Perrine Luigi, Anne-Marie Guerrot, Emmanuelle Ginglinger, Amandine Zampa, Anais Fauconnier, Nathalie Auger, Françoise Paris, Elise Brischoux-Boucher, Christelle Cabrol, Aurore Brun, Laura Guyon, Melanie Berard, Axelle Riviere, Nicolas Gruchy, Sylvie Odent, Brigitte Gilbert-Dussardier, Bertrand Isidor, Juliette Piard, Laetitia Lambert, Samir Hamamah, Anne Marie Guedj, Aude Brac de la Perriere, Hervé Fernandez, Marie-Laure Raffin-Sanson, Michel Polak, Hélène Letur, Sylvie Epelboin, Genevieve Plu-Bureau, Sławomir Wołczyński, Sylvie Hieronimus, Kristiina Aittomaki, Sophie Catteau-Jonard, Micheline Misrahi
Publikováno v:
EBioMedicine
EBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
EBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yield-ing infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We s
Autor:
Marianne Begorre, Daniel Cailliez, Claire Beneteau, Pierre Chenal, Thierry Frebourg, Guillaume Benoist, François Lecoquierre, Raphaele Mangione, Florence Petit, Nicolas Gruchy, Louise Devisme, Sophie Patrier, Juliette Coursimault, Fanny Pelluard, Hubert Journel, Bénédicte Gérard, Marion Gérard, Pascale Saugier-Veber, Valérie Layet, Alain Liquier, Corinne Jeanne, Mirjam M. de Jong, Nadia Tillouche, Anne Bazin, Gaël Nicolas, Conny M. A. van Ravenswaaij-Arts, Anne-Claire Brehin, Wilfrid Finck, Sophie Coutant, Sophie Degre, Christine Francannet, Madeleine Joubert, Hélène Laurichesse Delmas
Publikováno v:
Human Mutation
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Full access; International audience; Sirenomelia is a rare severe malformation sequence of unknown cause characterized by fused legs and severe visceral abnormalities. We present a series of nine families including two rare familial aggregations of s
Autor:
Ewelina Bukowska-Olech, Robert Schöpflin, Verena Heinrich, Magdalena Socha, Martin Franke, Varun K. A. Sreenivasan, Uirá Souto Melo, Inga Nagel, Cristina López, Aleksander Jamsheer, Martin Vingron, Anna Sowińska-Seidler, Stefan Mundlos, Nicolas Gruchy, Bjørt K Kragesteen, Malte Spielmann
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (9), pp.1725-1734. ⟨10.1016/j.ajhg.2021.08.001⟩
Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
instname
The American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (9), pp.1725-1734. ⟨10.1016/j.ajhg.2021.08.001⟩
Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
instname
The American Journal of Human Genetics
Copy-number variations (CNVs) are a common cause of congenital limb malformations and are interpreted primarily on the basis of their effect on gene dosage. However, recent studies show that CNVs also influence the 3D genome chromatin organization. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c08a1a10d20ce527ff7c6de3d5fe37
https://hal-normandie-univ.archives-ouvertes.fr/hal-03351770
https://hal-normandie-univ.archives-ouvertes.fr/hal-03351770
Autor:
Marie-Laure Kottler, Matthieu Decamp, Nadia Coudray, Céline Ballandonne, Claire Bracquemart, Cindy Colson, Nicolas Gruchy, Hervé Mittre, Arnaud Molin, Harald Jüppner, Rieko Takatani, Nicolas Richard
Publikováno v:
BONE
BONE, Elsevier, 2019, 123, pp.145-152. ⟨10.1016/j.bone.2019.03.023⟩
BONE, Elsevier, 2019, 123, pp.145-152. ⟨10.1016/j.bone.2019.03.023⟩
International audience; Pseudohypoparathyroidism 1B (PHP1B) is caused by maternal epigenetic defects in the imprinted GNAS cluster. PHP1B can follow an autosomal dominant mode of inheritance or occur sporadically (spor-PHP1B). These latter patients p
Autor:
Arnaud Molin, Nicolas Gruchy, Sylvie Paulien, Hervé Mittre, Sophie Naudion, Justine Bacchetta, Nicolas Richard, Laurence Faivre, Marion Gérard, Elise Schaefer, Sylvie Odent, Sarah Snanoudj, Marie-Laure Kottler, Bénédicte Demeer, Nadia Coudray, Cindy Colson, Alice Goldenberg
Publikováno v:
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2019, ⟨10.1002/jbmr.3948⟩
Journal of Bone and Mineral Research, American Society for Bone and Mineral Research, 2020, 35 (5), pp.913-919. ⟨10.1002/jbmr.3948⟩
International audience; Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by loss-of-function mutations in the imprinted Guanine Nucleotide Binding Protein, Alpha Stimu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df982f6d6a0d3f76074da646d62ba810
https://hal.archives-ouvertes.fr/hal-02434917
https://hal.archives-ouvertes.fr/hal-02434917
Autor:
Gilles Renom, Marie-Hélène Read, Camille Lefevre, David Guénet, Stéphane Allouche, Nicolas Gruchy
Publikováno v:
Annales de biologie clinique. 74:717-723
After a short description of the structure and the physiological roles of unconjugated estriol, this paper points out pre-analytical conditions and performances of the serum unconjugated estriol immunoassay, essentially used for Down syndrome screeni
Autor:
Chantal Missirian, Sylvie Jaillard, Valérie Malan, Marianne Till, Paul Kuentz, Claire Beneteau, Brigitte Simon-Bouy, Marguerite Hureaux, François Vialard, Nathalie Marle, Nicolas Gruchy, Bérénice Hervé, Laurent Salomon, Morgane Plutino, Fabienne Prieur, Lucie Tosca, Caroline Rooryck, Céline Dupont, Charles Coutton, Caroline Schluth-Bolard, Sarah Guterman, Mylène Valduga, Damien Sanlaville, Sylvie Redon, Jacques Puechberty
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
International audience; Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8decd4270286b823269f105dcfe129f6
https://hal.inrae.fr/hal-03179998
https://hal.inrae.fr/hal-03179998
Autor:
Sébastien Schmitt, Philippe Vago, Marie-Laure Maurin, Gregory Egea, Denise Molina Gomes, Emmanuelle Haquet, Marine Lebrun, Jacques Puechberty, François Vialard, Olivier Pichon, Perrine Malzac, Philippe Jonveaux, Martine Doco-Fenzy, Paul Kuentz, Sandra Chantot-Bastaraud, Kamran Moradkhani, Jean-Paul Bonnefont, Caroline Janel, Jean-Michel Dupont, Pierre Boisseau, Jean-Pierre Siffroi, Cédric Le Caignec, Anne-Laure Fauret-Amsellem, Damien Sanlaville, Chantal Missirian, Carole Goumy, Agnès Guichet, Marie-Christine Manca-Pellissier, Renaud Touraine, Laurence Cuisset, Pascale Saugier-Veber, Nicolas Gruchy, Houda Hamdi-Rozé, Bénédicte Duban-Bedu, Bruno Delobel, N. Joye, Isabelle Creveaux, Ines Harzallah, Frédéric Bilan, Philippe Gosset, Marie-Pierre Audrézet
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
International audience; Objective: Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c647a284e78a1fbe1bdab254bf6bb6
https://hal.science/hal-02343373/document
https://hal.science/hal-02343373/document
Autor:
Asma Chebil, Duksha Ramful, Thibaud Jouan, Hanitra Randrianaivo, Norbert F. Ajeawung, Nicolas Gruchy, Yannis Duffourd, Bérénice Doray, Christopher T. Gordon, Francesca Filippini, Christine Bole-Feysot, Philippe M. Campeau, Asma Omarjee, Julien Thevenon, Paul Kuentz, Jean-Luc Alessandri, Patrick Nitschke, Laurence Faivre, Jeanne Amiel, Coralie Dumont, Thi Tuyet Mai Nguyen, Marion Gérard, Myriam Oufadem, Guillaume Benoist, Olivier Alibeu, Marie-Line Jacquemont
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. 〈https://www.nature.com/articles/s41431-017-0087-x〉. 〈10.1038/s41431-017-0087-x〉
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. 〈https://www.nature.com/articles/s41431-017-0087-x〉. 〈10.1038/s41431-017-0087-x〉
International audience; Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d931cc42fd61c0cd79cc735187fb5658
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01708808
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01708808
Autor:
Marie-Ange Delrue, Nathalie Golovkine, Annick Toutain, Marie-Jose Gregoire, Christel Thauvin-Robinet, Nicolas Gruchy, Cédric Le Caignec, Emilie Landais, Bruno Delobel, Olivier Tassy, Pascal Sabouraud, Laurence Taine, Caroline Fiquet, Nathalie Leporrier, Agathe Paubel, Dominique Gaillard, Philippe Jonveaux, Nathalie Bednarek, Jacques Motte, Bruno Leheup, Olivier Brichet, Albert David, Didier Lacombe, Martine Doco-Fenzy, Stéphanie Arpin, Mylène Beri, Sylvain Briault, Monique Mozelle-Nivoix, Camille Leroy, Francine Mugneret
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. 〈10.1038/ejhg.2012.230〉
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
European Journal of Human Genetics, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. 〈10.1038/ejhg.2012.230〉
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
European Journal of Human Genetics, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based