Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Nicolas Gruchy"'
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:
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:
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
Autor:
Marie-Laure Kottler, Hervé Mittre, Marine Lebrun, Dominique Gourdier, Jacques Alliet, Nicolas Gruchy, Nathalie Leporrier, Michel Herlicoviez
Publikováno v:
American Journal of Medical Genetics Part A. :2770-2776
To assess the practical usefulness of array-comparative genomic hybridization (a-CGH) when supernumerary marker chromosomes (SMCs) are detected during prenatal diagnosis, we retrospectively studied SMC management in our laboratory before a-CGH availa
Autor:
Nicolas Richard, Nicolas Gruchy, Joris Andrieux, Ghislaine Plessis, Marie-Laure Kottler, Hervé Mittre, Elodie Lacaze, Mathieu Decamp, Marie-José Penniello-Valette, Nathalie Leporrier, Marion Gérard
Publikováno v:
American Journal of Medical Genetics Part A.
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 m
Autor:
Benjamin, Viaris de le Segno, Nicolas, Gruchy, Corinne, Bronfen, Patricia, Dolley, Nathalie, Leporrier, Christian, Creveuil, Guillaume, Benoist
Publikováno v:
Journal of clinical ultrasound : JCU. 44(2)
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.We conducted a retrospective study of all cases of clubfoot diagnosed prenatally in th
Autor:
Nicolas Gruchy, Genevieve Abeguile, Marie-Laure Kottler, Hervé Mittre, Nadia Coudray, Joris Andrieux, Pascal Cathebras, Nicolas Richard
Publikováno v:
The Journal of clinical endocrinology and metabolism. 97(5)
Patients with pseudohypoparathyroidism type Ib (PHP-1b) develop resistance toward PTH, leading to hypocalcemia and hyperphosphatemia. PHP-1b is an imprinted human disorder associated with methylation changes at one or several differentially methylate
Autor:
Nicolas, Gruchy, Matthieu, Decamp, Nicolas, Richard, Corinne, Jeanne-Pasquier, Guillaume, Benoist, Hervé, Mittre, Nathalie, Leporrier
Publikováno v:
Prenatal diagnosis. 32(4)
To compare results of array comparative genomic hybridization (CGH) on cell-free fetal (cff) DNA from amniotic fluid supernatant and DNA from cultured amniocytes in high-risk pregnancies.We selected 48 cases of high-risk pregnancies (in utero growth
Autor:
Marie-France Portnoï, Christèle Dubourg, Yves Le Bouc, Françoise Denoyelle, Nicolas Gruchy, Jean-Pierre Siffroi, Sylvie Odent, Lina Finkel, Muriel Houang, Sandrine Marlin
Publikováno v:
Clinical dysmorphology. 16(4)
The phenotype of monosomy 18p varies widely, the main clinical manifestations being mental and growth retardation, and craniofacial dysmorphism. Clinical features also include growth hormone (GH) deficiency, or holoprosencephaly (HPE). Haploinsuffici