Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Nicolas Gruchy"'
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:
Mylène Valduga, Catherine Yardin, François Vialard, Marie-Agnès Collonge-Rame, Nathalie Leporrier, Marianne Till, Camille Lebel-Roy, Nicolas Gruchy, Nathalie Le Meur, Frédérique Carré-Pigeon, Sylvie Jaillard, Eleonore Blondeel, Radu Harbuz, Pascal Chambon, A. Vigouroux-Castera, Géraldine Joly-Helas, Elisabeth Flori, Martine Herbaux, James Lespinasse, Mélanie Jimenez Pocquet, Francine Mugneret, Florence Amblard, Philippe Vago, Aurélie Coussement
Publikováno v:
Prenatal Diagnosis. 36:523-529
OBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47,XXX and 47,XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of th
Autor:
P. Dolley, Nicolas Gruchy, Corinne Bronfen, Nathalie Leporrier, Christian Creveuil, Benjamin Viaris de le Segno, Guillaume Benoist
Publikováno v:
Journal of Clinical Ultrasound. 44:100-105
Purpose Our aim was to evaluate the rate of occurrence of chromosomal abnormalities, associated findings, and outcome in a series of cases of prenatally diagnosed clubfoot. Methods We conducted a retrospective study of all cases of clubfoot diagnosed
Autor:
François Vialard, Melanie Jimenez, Mylène Valduga, Francine Mugneret, Florence Amblard, Sylvie Jaillard, Eleonore Blondeel, Philippe Vago, M Collonge Rame, F. Carré-Pigeon, Nathalie Leporrier, Marianne Till, Radu Harbuz, Aurélie Coussement, Catherine Yardin, James Lespinasse, Pascal Chambon, Géraldine Joly-Helas, Nicolas Gruchy, Elisabeth Flori, N. Le Meur, M. Herbaut-Graux, L Lebel Roy Camille, A. Vigouroux-Castera
Publikováno v:
Prenatal Diagnosis. 34:1133-1138
The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multid