Works matching AU Morin, Gilles

Results: 24

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912

By:

Jourdain, Anne‐Sophie;
Petit, Florence;
Odou, Marie‐Françoise;
Balduyck, Malika;
Brunelle, Perrine;
Dufour, William;
Boussion, Simon;
Brischoux‐Boucher, Elise;
Colson, Cindy;
Dieux, Anne;
Gérard, Marion;
Ghoumid, Jamal;
Giuliano, Fabienne;
Goldenberg, Alice;
Khau Van Kien, Philippe;
Lehalle, Daphné;
Morin, Gilles;
Moutton, Sébastien;
Smol, Thomas;
Vanlerberghe, Clémence

Publication type:

Article

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 17, doi. 10.1002/humu.23899

By:

Morin, Gilles;
Biancalana, Valérie;
Echaniz‐Laguna, Andoni;
Noury, Jean‐Baptiste;
Lornage, Xavière;
Moggio, Maurizio;
Ripolone, Michela;
Violano, Raffaella;
Marcorelles, Pascale;
Maréchal, Denis;
Renaud, Florence;
Maurage, Claude‐Alain;
Tard, Céline;
Cuisset, Jean‐Marie;
Laporte, Jocelyn;
Böhm, Johann

Publication type:

Article

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 743, doi. 10.1002/humu.22804

By:

Mansour‐Hendili, Lamisse;
Blanchard, Anne;
Pottier, Nelly;
Roncelin, Isabelle;
Lourdel, Stéphane;
Treard, Cyrielle;
González, Wendy;
Vergara‐Jaque, Ariela;
Morin, Gilles;
Colin, Estelle;
Holder‐Espinasse, Muriel;
Bacchetta, Justine;
Baudouin, Véronique;
Benoit, Stéphane;
Bérard, Etienne;
Bourdat‐Michel, Guylhène;
Bouchireb, Karim;
Burtey, Stéphane;
Cailliez, Mathilde;
Cardon, Gérard

Publication type:

Article

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722

By:

Morin, Gilles;
Bruechle, Nadina Ortiz;
Singh, Amrathlal Rabbind;
Knopp, Cordula;
Jedraszak, Guillaume;
Elbracht, Miriam;
Brémond‐Gignac, Dominique;
Hartmann, Kathi;
Sevestre, Henri;
Deutz, Peter;
Hérent, Didier;
Nürnberg, Peter;
Roméo, Bernard;
Konrad, Kerstin;
Mathieu‐Dramard, Michèle;
Oldenburg, Johannes;
Bourges‐Petit, Elisabeth;
Shen, Yuequan;
Zerres, Klaus;
Ouadid‐Ahidouch, Halima

Publication type:

Article

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621

By:

Morin, Gilles;
Bruechle, Nadina Ortiz;
Singh, Amrathlal Rabbind;
Knopp, Cordula;
Jedraszak, Guillaume;
Elbracht, Miriam;
Brémond‐Gignac, Dominique;
Hartmann, Kathi;
Sevestre, Henri;
Deutz, Peter;
Hérent, Didier;
Nürnberg, Peter;
Roméo, Bernard;
Konrad, Kerstin;
Mathieu‐Dramard, Michèle;
Oldenburg, Johannes;
Bourges‐Petit, Elisabeth;
Shen, Yuequan;
Zerres, Klaus;
Ouadid‐Ahidouch, Halima

Publication type:

Article

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. 665, doi. 10.1002/humu.22012

By:

Daniel, Philip B.;
Morgan, Tim;
Alanay, Yasemin;
Bijlsma, Emilia;
Cho, Tae-Joon;
Cole, Trevor;
Collins, Felicity;
David, Albert;
Devriendt, Koen;
Faivre, Laurence;
Ikegawa, Shiro;
Jacquemont, Sebastien;
Jesic, Milos;
Krakow, Deborah;
Liebrecht, Daniela;
Maitz, Silvia;
Marlin, Sandrine;
Morin, Gilles;
Nishikubo, Toshiya;
Nishimura, Gen

Publication type:

Article

Non- USH2A mutations in USH2 patients.

Published in:

Human Mutation, 2012, v. 33, n. 3, p. 504, doi. 10.1002/humu.22004

By:

Besnard, Thomas;
Vaché, Christel;
Baux, David;
Larrieu, Lise;
Abadie, Caroline;
Blanchet, Catherine;
Odent, Sylvie;
Blanchet, Patricia;
Calvas, Patrick;
Hamel, Christian;
Dollfus, Hélène;
Lina-Granade, Geneviève;
Lespinasse, James;
David, Albert;
Isidor, Bertrand;
Morin, Gilles;
Malcolm, Sue;
Tuffery-Giraud, Sylvie;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Published in:

Human Mutation, 2012, v. 33, n. 1, p. 180, doi. 10.1002/humu.21617

By:

Crépin, Michel;
Dieu, Marie-Claire;
Lejeune, Sophie;
Escande, Fabienne;
Boidin, Denis;
Porchet, Nicole;
Morin, Gilles;
Manouvrier, Sylvie;
Mathieu, Michèle;
Buisine, Marie-Pierre

Publication type:

Article

TCF4 Deletions in Pitt-Hopkins Syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 11, p. E242, doi. 10.1002/humu.20859

By:

Giurgea, Irina;
Missirian, Chantal;
Cacciagli, Pierre;
Whalen, Sandra;
Fredriksen, Tessa;
Gaillon, Thierry;
Rankin, Julia;
Mathieu-Dramard, Michele;
Morin, Gilles;
Martin-Coignard, Dominique;
Dubourg, Christèle;
Chabrol, Brigitte;
Arfi, Jacqueline;
Giuliano, Fabienne;
Claude Lambert, Jean;
Philip, Nicole;
Sarda, Pierre;
Villard, Laurent;
Goossens, Michel;
Moncla, Anne

Publication type:

Article

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1248, doi. 10.1038/sj.ejhg.5201708

By:

Lehmann, Katarina;
Seemann, Petra;
Boergermann, Jan;
Morin, Gilles;
Reif, Silke;
Knaus, Petra;
Mundlos, Stefan

Publication type:

Article

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372

By:

Hichri, Haifa;
Stoetzel, Corinne;
Laurier, Virginie;
Caron, Solenne;
Sigaudy, Sabine;
Sarda, Pierre;
Hamel, Christian;
Martin-Coignard, Dominique;
Gilles, Morin;
Leheup, Bruno;
Holder, Mureille;
Kaplan, Josseline;
Bitoun, Pierre;
Lacombe, Didier;
Verloes, Alain;
Bonneau, Dominique;
Perrin-Schmitt, Fabienne;
Brandt, Christian;
Besancon, Anne-Françoise;
Mandel, Jean-Louis

Publication type:

Article

Identification of mutations in CUL7 in 3-M syndrome.

Published in:

Nature Genetics, 2005, v. 37, n. 10, p. 1119, doi. 10.1038/ng1628

By:

Huber, Céline;
Dias-Santagata, Dora;
Glaser, Anna;
O'Sullivan, James;
Brauner, Raja;
Wu, Kenneth;
Xinsong Xu;
Pearce, Kerra;
Rong Wang;
Uzielli, Maria Luisa Giovannucci;
Dagoneau, Nathalie;
Chemaitilly, Wassim;
Superti-Furga, Andrea;
Dos Santos, Heloisa;
Mégarbané, André;
Morin, Gilles;
Gillessen-Kaesbach, Gabriele;
Hennekam, Raoul;
van der Burgt, Ineke;
Black, Graeme C. M.

Publication type:

Article

Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.

Published in:

2022

By:

Picard, Jean-Yves;
Morin, Gilles;
Devouassoux-Shisheboran, Mojgan;
Smagt, Jasper Van der;
Klosowski, Serge;
Pienkowski, Catherine;
Pierre-Renoult, Peggy;
Masson, Cécile;
Bole, Christine;
Josso, Nathalie;
Van der Smagt, Jasper

Publication type:

journal article

Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

Published in:

Clinical Genetics, 2024, v. 106, n. 3, p. 234, doi. 10.1111/cge.14525

By:

Billes, Alexis;
Pujalte, Mathilde;
Jedraszak, Guillaume;
Amsallem, Daniel;
Boudry‐Labis, Elise;
Boute, Odile;
Bouquillon, Sonia;
Brischoux‐Boucher, Elise;
Callier, Patrick;
Coutton, Charles;
Denizet, Anne‐Laude Avice;
Dieterich, Klaus;
Kuentz, Paul;
Lespinasse, James;
Mazel, Benoît;
Morin, Gilles;
Amram, Florence;
Pennamen, Perrine;
Rio, Marlène;
Piard, Juliette

Publication type:

Article

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746

By:

Ranza, Emmanuelle;
Guimier, Anne;
Verloes, Alain;
Capri, Yline;
Marques, Charles;
Auclair, Martine;
Mathieu‐Dramard, Michèle;
Morin, Gilles;
Thevenon, Julien;
Faivre, Laurence;
Thauvin‐Robinet, Christel;
Innes, A. Micheil;
Dyment, David A.;
Vigouroux, Corinne;
Amiel, Jeanne

Publication type:

Article

Prenatal Diagnosis of Proteus Syndrome: About a Case.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63968

By:

Giovannangeli, Luana;
Magry, Virginie;
Jobic, Florence;
Messaoudi, Kahia;
Darwiche, Walaa;
Perriere, Marianne;
Billes, Alexis;
Delmas Lanta, Ségolène;
Masurel, Alice;
Morin, Gilles;
Jedraszak, Guillaume

Publication type:

Article

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3877, doi. 10.1002/ajmg.a.62448

By:

Jobic, Florence;
Lacot‐Leriche, Emilie;
Piton, Amélie;
Le Moing, Anne‐Gaëlle;
Mathieu‐Dramard, Michèle;
Costantini, Sara;
Morin, Gilles;
Jedraszak, Guillaume

Publication type:

Article

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2923, doi. 10.1002/ajmg.a.38420

By:

Luisin, Marion;
Chevreau, Julien;
Klein, Céline;
Naepels, Philippe;
Demeer, Bénédicte;
Mathieu‐Dramard, Michèle;
Jedraszak, Guillaume;
Gondry‐Jouet, Catherine;
Gondry, Jean;
Dieux‐Coeslier, Anne;
Morin, Gilles

Publication type:

Article

New intragenic rearrangements in non-Finnish mulibrey nanism.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381

By:

Jobic, Florence;
Morin, Gilles;
Vincent‐Delorme, Catherine;
Cadet, Estelle;
Cabry, Rosalie;
Mathieu‐Dramard, Michèle;
Copin, Henri;
Rochette, Jacques;
Jedraszak, Guillaume

Publication type:

Article

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 504, doi. 10.1002/ajmg.a.36882

By:

Jedraszak, Guillaume;
Demeer, Bénédicte;
Mathieu‐Dramard, Michèle;
Andrieux, Joris;
Receveur, Aline;
Weber, Astrid;
Maye, Una;
Foulds, Nicola;
Temple, IK;
Crolla, John;
Alex‐Cordier, Marie‐Pierre;
Sanlaville, Damien;
Ewans, Lisa;
Wilson, Meredith;
Armstrong, Ruth;
Clarkson, Amanda;
Copin, Henri;
Morin, Gilles

Publication type:

Article

A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 13, p. 2317, doi. 10.1093/hmg/6.13.2317

By:

Saunier, Sophie;
Calado, Joaquim;
Heilig, Roland;
Silbermann, Flora;
Benessy, France;
Morin, Gilles;
Konrad, Martin;
Broyer, Michel;
Gubler, Marie-Claire;
Weissenbach, Jean;
Antignac, Corinne

Publication type:

Article

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission.

Published in:

Prenatal Diagnosis, 2001, v. 21, n. 10, p. 890, doi. 10.1002/pd.175

By:

Morin, Gilles;
Gekas, Jean;
Naepels, Philippe;
Gondry, Jean;
Devauchelle, Bernard;
Testelin, Sylvie;
Sevestre, Henri;
Thépôt, François;
Mathieu, Michèle

Publication type:

Article

Life After Parliament: The Role of Associations of Former Parliamentarians.

Published in:

Canadian Parliamentary Review, 2015, v. 38, n. 3, p. 4

By:

Asper, Linda;
Dionne-Marsolais, Rita;
Evans, Clif;
Haslam, Karen;
Morin, Gilles;
Shea, Derwyn;
Warner, David

Publication type:

Article

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/943905

By:

Jedraszak, Guillaume;
Receveur, Aline;
Andrieux, Joris;
Mathieu-Dramard, Michèle;
Copin, Henri;
Morin, Gilles

Publication type:

Article