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Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center.
Published in:
2016
By:
- Viaris de le Segno, Benjamin;
- Gruchy, Nicolas;
- Bronfen, Corinne;
- Dolley, Patricia;
- Leporrier, Nathalie;
- Creveuil, Christian;
- Benoist, Guillaume
Publication type:
journal article
Marine Collagen Hydrolysates Promote Collagen Synthesis, Viability and Proliferation While Downregulating the Synthesis of Pro-Catabolic Markers in Human Articular Chondrocytes.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3693, doi. 10.3390/ijms22073693
By:
- Bourdon, Bastien;
- Cassé, Frédéric;
- Gruchy, Nicolas;
- Cambier, Pierre;
- Leclercq, Sylvain;
- Oddoux, Sarah;
- Noël, Antoine;
- Lafont, Jérôme E.;
- Contentin, Romain;
- Galéra, Philippe;
- Lee, Seung-Hong
Publication type:
Article
Marine Collagen Hydrolysates Downregulate the Synthesis of Pro-Catabolic and Pro-Inflammatory Markers of Osteoarthritis and Favor Collagen Production and Metabolic Activity in Equine Articular Chondrocyte Organoids.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 580, doi. 10.3390/ijms22020580
By:
- Bourdon, Bastien;
- Contentin, Romain;
- Cassé, Frédéric;
- Maspimby, Chloé;
- Oddoux, Sarah;
- Noël, Antoine;
- Legendre, Florence;
- Gruchy, Nicolas;
- Galéra, Philippe
Publication type:
Article
MiR-4270 acts as a tumor suppressor by directly targeting Bcl-xL in human osteosarcoma cells.
Published in:
Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1220459
By:
- Veys, Clément;
- Boulouard, Flavie;
- Benmoussa, Abderrahim;
- Jammes, Manon;
- Brotin, Emilie;
- Rédini, Françoise;
- Poulain, Laurent;
- Gruchy, Nicolas;
- Denoyelle, Christophe;
- Legendre, Florence;
- Galera, Philippe
Publication type:
Article
3q29 duplications: A cohort of 46 patients and a literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
By:
- Massier, Marie;
- Doco‐Fenzy, Martine;
- Egloff, Matthieu;
- Le Guillou, Xavier;
- Le Guyader, Gwenaël;
- Redon, Sylvia;
- Benech, Caroline;
- Le Millier, Karine;
- Uguen, Kevin;
- Ropars, Juliette;
- Sacaze, Elise;
- Audebert‐Bellanger, Séverine;
- Apetrei, Andreea;
- Molin, Arnaud;
- Gruchy, Nicolas;
- Vincent‐Devulder, Aline;
- Spodenkiewicz, Marta;
- Jacquin, Clémence;
- Loron, Gauthier;
- Thibaud, Marie
Publication type:
Article
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63457
By:
- Bourgois, Alexia;
- Bizaoui, Varoona;
- Colson, Cindy;
- Vincent‐Devulder, Aline;
- Molin, Arnaud;
- Gérard, Marion;
- Gruchy, Nicolas
Publication type:
Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
By:
- Jacquin, Clémence;
- Landais, Emilie;
- Poirsier, Céline;
- Afenjar, Alexandra;
- Akhavi, Ahmad;
- Bednarek, Nathalie;
- Bénech, Caroline;
- Bonnard, Adeline;
- Bosquet, Damien;
- Burglen, Lydie;
- Callier, Patrick;
- Chantot‐Bastaraud, Sandra;
- Coubes, Christine;
- Coutton, Charles;
- Delobel, Bruno;
- Descharmes, Margaux;
- Dupont, Jean‐Michel;
- Gatinois, Vincent;
- Gruchy, Nicolas;
- Guterman, Sarah
Publication type:
Article
De novo 15q13.3 microdeletion with cryptogenic west syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2582, doi. 10.1002/ajmg.a.36085
By:
- Lacaze, Elodie;
- Gruchy, Nicolas;
- Penniello‐Valette, Marie‐José;
- Plessis, Ghislaine;
- Richard, Nicolas;
- Decamp, Mathieu;
- Mittre, Hervé;
- Leporrier, Nathalie;
- Andrieux, Joris;
- Kottler, Marie‐Laure;
- Gerard, Marion
Publication type:
Article
Caractéristiques immunoanalytiques de l'oestriol non conjugué : indications des dosages et performances des réactifs utilisés.
Published in:
Annales de Biologie Clinique, 2016, v. 74, n. 6, p. 717, doi. 10.1684/abc.2016.1194
By:
- Lefevre, Camille;
- Gruchy, Nicolas;
- Guénet, David;
- Renom, Gilles;
- Allouche, Stéphane;
- Read, Marie-Hélène
Publication type:
Article
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.
Published in:
2012
By:
- Richard N;
- Abeguilé G;
- Coudray N;
- Mittre H;
- Gruchy N;
- Andrieux J;
- Cathebras P;
- Kottler ML;
- Richard, Nicolas;
- Abeguilé, Genevieve;
- Coudray, Nadia;
- Mittre, Hervé;
- Gruchy, Nicolas;
- Andrieux, Joris;
- Cathebras, Pascal;
- Kottler, Marie-Laure
Publication type:
journal article
Chondrogenic commitment of human umbilical cord blood-derived mesenchymal stem cells in collagen matrices for cartilage engineering.
Published in:
Scientific Reports, 2016, p. 32786, doi. 10.1038/srep32786
By:
- Gómez-Leduc, Tangni;
- Hervieu, Magalie;
- Legendre, Florence;
- Bouyoucef, Mouloud;
- Gruchy, Nicolas;
- Poulain, Laurent;
- de Vienne, Claire;
- Herlicoviez, Michel;
- Demoor, Magali;
- Galéra, Philippe
Publication type:
Article
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.
Published in:
Human Genetics, 2009, v. 124, n. 6, p. 649, doi. 10.1007/s00439-008-0588-3
By:
- Daoud, Hussein;
- Gruchy, Nicolas;
- Constans, Jean-Marc;
- Moussaoui, Edgar;
- Saumureau, Simone;
- Bayou, Nadia;
- Amy, Maïté;
- Védrine, Sylviane;
- Phi Yen Vu;
- Rötig, Agnès;
- Laumonnier, Frédéric;
- Vourc'h, Patrick;
- Andres, Christian R.;
- Leporrier, Nathalie;
- Briault, Sylvain
Publication type:
Article
Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Published in:
Andrology, 2022, v. 10, n. 8, p. 1625, doi. 10.1111/andr.13279
By:
- Capron, Céline;
- Januel, Louis;
- Vieville, Gaëlle;
- Jaillard, Sylvie;
- Kuentz, Paul;
- Salaun, Gaëlle;
- Nadeau, Gwenaël;
- Clement, Patrice;
- Brechard, Marie Pierre;
- Herve, Bérénice;
- Dupont, Jean Michel;
- Gruchy, Nicolas;
- Chambon, Pascal;
- Abdelhedi, Fatma;
- Dahlen, Eric;
- Vago, Philippe;
- Harbuz, Radu;
- Plotton, Ingrid;
- Coutton, Charles;
- Belaud‐Rotureau, Marc‐Antoine
Publication type:
Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
By:
- Leroy, Camille;
- Landais, Emilie;
- Briault, Sylvain;
- David, Albert;
- Tassy, Olivier;
- Gruchy, Nicolas;
- Delobel, Bruno;
- Grégoire, Marie-José;
- Leheup, Bruno;
- Taine, Laurence;
- Lacombe, Didier;
- Delrue, Marie-Ange;
- Toutain, Annick;
- Paubel, Agathe;
- Mugneret, Francine;
- Thauvin-Robinet, Christel;
- Arpin, Stéphanie;
- Le Caignec, Cedric;
- Jonveaux, Philippe;
- Beri, Mylène
Publication type:
Article
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Published in:
Clinical Chemistry, 2019, v. 65, n. 9, p. 1153, doi. 10.1373/clinchem.2019.304246
By:
- Cassinari, Kévin;
- Quenez, Olivier;
- Joly-Hélas, Géraldine;
- Beaussire, Ludivine;
- Le Meur, Nathalie;
- Castelain, Mathieu;
- Goldenberg, Alice;
- Guerrot, Anne-Marie;
- Brehin, Anne-Claire;
- Deleuze, Jean-François;
- Boland, Anne;
- Rovelet-Lecrux, Anne;
- Campion, Dominique;
- Saugier-Veber, Pascale;
- Gruchy, Nicolas;
- Frebourg, Thierry;
- Nicolas, Gaël;
- Sarafan-Vasseur, Nasrin;
- Chambon, Pascal
Publication type:
Article
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Published in:
2019
By:
- Moradkhani, Kamran;
- Cuisset, Laurence;
- Boisseau, Pierre;
- Pichon, Olivier;
- Lebrun, Marine;
- Hamdi‐Rozé, Houda;
- Maurin, Marie‐Laure;
- Gruchy, Nicolas;
- Manca‐Pellissier, Marie‐Christine;
- Malzac, Perrine;
- Bilan, Frédéric;
- Audrezet, Marie‐Pierre;
- Saugier‐Veber, Pascale;
- Fauret‐Amsellem, Anne‐Laure;
- Missirian, Chantal;
- Kuentz, Paul;
- Egea, Gregory;
- Guichet, Agnès;
- Creveaux, Isabelle;
- Janel, Caroline
Publication type:
journal article
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Published in:
2019
By:
- Hureaux, Marguerite;
- Guterman, Sarah;
- Hervé, Bérénice;
- Till, Marianne;
- Jaillard, Sylvie;
- Redon, Sylvie;
- Valduga, Myléne;
- Coutton, Charles;
- Missirian, Chantal;
- Prieur, Fabienne;
- Simon‐Bouy, Brigitte;
- Beneteau, Claire;
- Kuentz, Paul;
- Rooryck, Caroline;
- Gruchy, Nicolas;
- Marle, Nathalie;
- Plutino, Morgane;
- Tosca, Lucie;
- Dupont, Celine;
- Puechberty, Jacques
Publication type:
journal article
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Published in:
2016
By:
- Gruchy, Nicolas;
- Blondeel, Eleonore;
- Le Meur, Nathalie;
- Joly‐Hélas, Géraldine;
- Chambon, Pascal;
- Till, Marianne;
- Herbaux, Martine;
- Vigouroux‐Castera, Adeline;
- Coussement, Aurélie;
- Lespinasse, James;
- Amblard, Florence;
- Jimenez Pocquet, Mélanie;
- Lebel‐Roy, Camille;
- Carré‐Pigeon, Frédérique;
- Flori, Elisabeth;
- Mugneret, Francine;
- Jaillard, Sylvie;
- Yardin, Catherine;
- Harbuz, Radu;
- Collonge‐Rame, Marie‐Agnès
Publication type:
journal article
Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.
Published in:
Prenatal Diagnosis, 2012, v. 32, n. 4, p. 383, doi. 10.1002/pd.2861
By:
- Gruchy, Nicolas;
- Decamp, Matthieu;
- Richard, Nicolas;
- Jeanne-Pasquier, Corinne;
- Benoist, Guillaume;
- Mittre, Hervé;
- Leporrier, Nathalie
Publication type:
Article
Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations.
Published in:
Journal of Bone & Mineral Research, 2020, v. 35, n. 5, p. 913, doi. 10.1002/jbmr.3948
By:
- Snanoudj, Sarah;
- Molin, Arnaud;
- Colson, Cindy;
- Coudray, Nadia;
- Paulien, Sylvie;
- Mittre, Hervé;
- Gérard, Marion;
- Schaefer, Elise;
- Goldenberg, Alice;
- Bacchetta, Justine;
- Odent, Sylvie;
- Naudion, Sophie;
- Demeer, Bénédicte;
- Faivre, Laurence;
- Gruchy, Nicolas;
- Kottler, Marie‐Laure;
- Richard, Nicolas
Publication type:
Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
By:
- Ben-Mahmoud, Afif;
- Kishikawa, Shotaro;
- Gupta, Vijay;
- Leach, Natalia T.;
- Shen, Yiping;
- Moldovan, Oana;
- Goel, Himanshu;
- Hopper, Bruce;
- Ranguin, Kara;
- Gruchy, Nicolas;
- Maas, Saskia M;
- Lacassie, Yves;
- Kim, Soo-Hyun;
- Kim, Woo-Yang;
- Quade, Bradley J.;
- Morton, Cynthia C.;
- Kim, Cheol-Hee;
- Layman, Lawrence C.;
- Kim, Hyung-Goo
Publication type:
Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
By:
- Ben-Mahmoud, Afif;
- Kishikawa, Shotaro;
- Gupta, Vijay;
- Leach, Natalia T.;
- Shen, Yiping;
- Moldovan, Oana;
- Goel, Himanshu;
- Hopper, Bruce;
- Ranguin, Kara;
- Gruchy, Nicolas;
- Maas, Saskia M;
- Lacassie, Yves;
- Kim, Soo-Hyun;
- Kim, Woo-Yang;
- Quade, Bradley J.;
- Morton, Cynthia C.;
- Kim, Cheol-Hee;
- Layman, Lawrence C.;
- Kim, Hyung-Goo
Publication type:
Article

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