OpenURL Connection Search

Select item for more details and to access through your institution.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
By:
- Monin, Marie-Lorraine;
- Mignot, Cyril;
- De Lonlay, Pascale;
- Héron, Bénédicte;
- Masurel, Alice;
- Mathieu-Dramard, Michèle;
- Lenaerts, Catherine;
- Thauvin, Christel;
- Gérard, Marion;
- Roze, Emmanuel;
- Jacquette, Aurélia;
- Charles, Perrine;
- de Baracé, Claire;
- Drouin-Garraud, Valérie;
- Khau Van Kien, Philippe;
- Cormier-Daire, Valérie;
- Mayer, Michèle;
- Ogier, Hélène;
- Brice, Alexis;
- Seta, Nathalie
Publication type:
Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Published in:
2014
By:
- Monin, Marie-Lorraine;
- Mignot, Cyril;
- De Lonlay, Pascale;
- Héron, Bénédicte;
- Masurel, Alice;
- Mathieu-Dramard, Michèle;
- Lenaerts, Catherine;
- Thauvin, Christel;
- Gérard, Marion;
- Roze, Emmanuel;
- Jacquette, Aurélia;
- Charles, Perrine;
- de Baracé, Claire;
- Drouin-Garraud, Valérie;
- Khau Van Kien, Philippe;
- Cormier-Daire, Valérie;
- Mayer, Michèle;
- Ogier, Hélène;
- Brice, Alexis;
- Seta, Nathalie
Publication type:
Journal Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Published in:
2017
By:
- Wolff, Markus;
- Johannesen, Katrine M;
- Hedrich, Ulrike B S;
- Masnada, Silvia;
- Rubboli, Guido;
- Gardella, Elena;
- Lesca, Gaetan;
- Ville, Dorothée;
- Milh, Mathieu;
- Villard, Laurent;
- Afenjar, Alexandra;
- Chantot-Bastaraud, Sandra;
- Mignot, Cyril;
- Lardennois, Caroline;
- Nava, Caroline;
- Schwarz, Niklas;
- Gérard, Marion;
- Perrin, Laurence;
- Doummar, Diane;
- Auvin, Stéphane
Publication type:
journal article
The three stages of epilepsy in patients with CDKL5 mutations.
Published in:
Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
By:
- Bahi-Buisson, Nadia;
- Kaminska, Anna;
- Boddaert, Nathalie;
- Rio, Marlène;
- Afenjar, Alexandra;
- Gérard, Marion;
- Giuliano, Fabienne;
- Motte, Jacques;
- Héron, Delphine;
- Morel, Marie Ange N'Guyen;
- Plouin, Perrine;
- Richelme, Christian;
- des Portes, Vincent;
- Dulac, Olivier;
- Philippe, Christophe;
- Chiron, Catherine;
- Nabbout, Rima;
- Bienvenu, Thierry
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
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1008, doi. 10.1002/ajmg.a.36856
By:
- Chatron, Nicolas;
- Haddad, Véronique;
- Andrieux, Joris;
- Désir, Julie;
- Boute, Odile;
- Dieux, Anne;
- Baumann, Clarisse;
- Drunat, Séverine;
- Gérard, Marion;
- Bonnet, Céline;
- Leheup, Bruno;
- Till, Marianne;
- Rossi, Massimiliano;
- Flori, Elisabeth;
- Alembik, Yves;
- Stewart, Helen;
- McParland, Joanna;
- Bernardini, Laura;
- Castelluccio, Pia;
- Roos, Laura
Publication type:
Article
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 185, doi. 10.1002/ajmg.a.36428
By:
- Jean‐Marçais, Nolwenn;
- Decamp, Matthieu;
- Gérard, Marion;
- Ribault, Virginie;
- Andrieux, Joris;
- Kottler, Marie‐Laure;
- Plessis, Ghislaine
Publication type:
Article
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3023, doi. 10.1002/ajmg.a.36151
By:
- Mehawej, Cybel;
- Courcet, Jean‐Benoît;
- Baujat, Geneviève;
- Mouy, Richard;
- Gérard, Marion;
- Landru, Isabelle;
- Gosselin, Morgane;
- Koehrer, Philippe;
- Mousson, Christiane;
- Breton, Sylvain;
- Quartier, Pierre;
- Le Merrer, Martine;
- Faivre, Laurence;
- Cormier‐Daire, Valérie
Publication type:
Article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
By:
- Delahaye, Andrée;
- Khung-Savatovsky, Suonavy;
- Aboura, Azzedine;
- Guimiot, Fabien;
- Drunat, Séverine;
- Alessandri, Jean-Luc;
- Gérard, Marion;
- Bitoun, Pierre;
- Boumendil, Julien;
- Robin, Stéphanie;
- Huel, Chan;
- Guilherme, Romain;
- Serero, Stéphane;
- Gressens, Pierre;
- Elion, Jacques;
- Verloes, Alain;
- Benzacken, Brigitte;
- Delezoide, Anne-Lise;
- Pipiras, Eva
Publication type:
Article
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
By:
- Rambaud, Jérôme;
- Marey, Isabelle;
- Dupont, Céline;
- Perrin-Sabourin, Laurence;
- Capri, Yline;
- Tabet, Anne Claude;
- Benzacken, Brigitte;
- Verloes, Alain;
- Aboura, Azzedine;
- Gérard, Marion
Publication type:
Article
The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients.
Published in:
2014
By:
- Marcos, Séverine;
- Sarfati, Julie;
- Leroy, Chrystel;
- Fouveaut, Corinne;
- Parent, Philippe;
- Metz, Chantal;
- Wolczynski, Slawomir;
- Gérard, Marion;
- Bieth, Eric;
- Kurtz, François;
- Verier-Mine, Odile;
- Perrin, Laurence;
- Archambeaud, Françoise;
- Cabrol, Sylvie;
- Rodien, Patrice;
- Hove, Hanne;
- Prescott, Trine;
- Lacombe, Didier;
- Christin-Maitre, Sophie;
- Touraine, Philippe
Publication type:
Journal Article
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
Published in:
Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0438-4
By:
- Saugier-Veber, Pascale;
- Marguet, Florent;
- Lecoquierre, François;
- Adle-Biassette, Homa;
- Guimiot, Fabien;
- Cipriani, Sara;
- Patrier, Sophie;
- Brasseur-Daudruy, Marie;
- Goldenberg, Alice;
- Layet, Valérie;
- Capri, Yline;
- Gérard, Marion;
- Frébourg, Thierry;
- Laquerrière, Annie
Publication type:
Article
An Integrated Diagnosis Strategy for Congenital Myopathies.
Published in:
PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067527
By:
- Böhm, Johann;
- Vasli, Nasim;
- Malfatti, Edoardo;
- Le Gras, Stéphanie;
- Feger, Claire;
- Jost, Bernard;
- Monnier, Nicole;
- Brocard, Julie;
- Karasoy, Hatice;
- Gérard, Marion;
- Walter, Maggie C.;
- Reilich, Peter;
- Biancalana, Valérie;
- Kretz, Christine;
- Messaddeq, Nadia;
- Marty, Isabelle;
- Lunardi, Joël;
- Romero, Norma B.;
- Laporte, Jocelyn
Publication type:
Article
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Published in:
2023
By:
- Giannuzzi, Giuliana;
- Chatron, Nicolas;
- Mannik, Katrin;
- Auwerx, Chiara;
- Pradervand, Sylvain;
- Willemin, Gilles;
- Hoekzema, Kendra;
- Nuttle, Xander;
- Chrast, Jacqueline;
- Sadler, Marie C.;
- Porcu, Eleonora;
- Männik, Katrin;
- Sanlaville, Damien;
- Schluth-Bolard, Caroline;
- Le Caignec, Cédric;
- Nizon, Mathilde;
- Martin, Sandra;
- Jacquemont, Sébastien;
- Bottani, Armand;
- Gérard, Marion
Publication type:
Correction Notice
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
By:
- Delahaye, Andrée;
- Bitoun, Pierre;
- Drunat, Séverine;
- Gérard-Blanluet, Marion;
- Chassaing, Nicolas;
- Toutain, Annick;
- Verloes, Alain;
- Gatelais, Frédérique;
- Legendre, Marie;
- Faivre, Laurence;
- Passemard, Sandrine;
- Aboura, Azzedine;
- Kaltenbach, Sophie;
- Quentin, Samuel;
- Dupont, Céline;
- Tabet, Anne-Claude;
- Amselem, Serge;
- Elion, Jacques;
- Gressens, Pierre;
- Pipiras, Eva
Publication type:
Article
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 7, p. 767, doi. 10.1038/sj.ejhg.5201823
By:
- Caux, Frédéric;
- Plauchu, Henri;
- Chibon, Frédéric;
- Faivre, Laurence;
- Fain, Olivier;
- Vabres, Pierre;
- Bonnet, Françoise;
- Selma, Zied Ben;
- Laroche, Liliane;
- Gérard, Marion;
- Longy, Michel
Publication type:
Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Published in:
Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
By:
- Tabet, Anne-Claude;
- Verloes, Alain;
- Pilorge, Marion;
- Delaby, Elsa;
- Delorme, Richard;
- Nygren, Gudrun;
- Devillard, Françoise;
- Gérard, Marion;
- Passemard, Sandrine;
- Héron, Delphine;
- Siffroi, Jean-Pierre;
- Jacquette, Aurelia;
- Delahaye, Andrée;
- Perrin, Laurence;
- Dupont, Céline;
- Aboura, Azzedine;
- Bitoun, Pierre;
- Coleman, Mary;
- Leboyer, Marion;
- Gillberg, Christopher
Publication type:
Article
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations.
Published in:
Clinical Genetics, 2019, v. 96, n. 4, p. 317, doi. 10.1111/cge.13594
By:
- Ader, Flavie;
- De Groote, Pascal;
- Réant, Patricia;
- Rooryck‐Thambo, Caroline;
- Dupin‐Deguine, Delphine;
- Rambaud, Caroline;
- Khraiche, Diala;
- Perret, Claire;
- Pruny, Jean François;
- Mathieu‐Dramard, Michèle;
- Gérard, Marion;
- Troadec, Yann;
- Gouya, Laurent;
- Jeunemaitre, Xavier;
- Van Maldergem, Lionel;
- Hagège, Albert;
- Villard, Eric;
- Charron, Philippe;
- Richard, Pascale
Publication type:
Article
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.815
By:
- Snanoudj, Sarah;
- Mordel, Patrick;
- Dupas, Quentin;
- Schanen, Cécile;
- Arion, Alina;
- Gérard, Marion;
- Read, Marie‐Hélène;
- Nait Rabah, Djamel;
- Goux, Didier;
- Chapon, Françoise;
- Jokic, Mickael;
- Allouche, Stéphane
Publication type:
Article
Structural and functional exploration of the retinal vasculature in HANAC syndrome associated with a novel intronic COL4A1 mutation.
Published in:
Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0527
By:
- Faure, Céline;
- Castrale, Cindy;
- Benabed, Anaïs;
- Cognard, Pauline;
- Lezé, Romain;
- Gérard, Marion;
- Louapre, Céline;
- Paques, Michel
Publication type:
Article
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Published in:
Prenatal Diagnosis, 2008, v. 28, n. 11, p. 993, doi. 10.1002/pd.2088
By:
- Simon-Bouy, Brigitte;
- Taillandier, Agnès;
- Fauvert, Delphine;
- Brun-Heath, Isabelle;
- Serre, Jean-Louis;
- Armengod, Carmen G.;
- Bialer, Martin G.;
- Mathieu, Michèle;
- Cousin, Jacques;
- Chitayat, David;
- Liebelt, Jan;
- Feldman, Barbara;
- Gérard-Blanluet, Marion;
- Körtge-Jung, Stefani;
- King, Cath;
- Laivuori, Hannele;
- Le Merrer, Martine;
- Mehta, Sarju;
- Jern, Christina;
- Sharif, Saba
Publication type:
Article
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.
Published in:
Prenatal Diagnosis, 2006, v. 26, n. 4, p. 340, doi. 10.1002/pd.1412
By:
- Levaillant, Jean-Marc;
- Gérard-Blanluet, Marion;
- Holder-Espinasse, Muriel;
- Valat-Rigot, Anne-Sylvie;
- Devisme, Louise;
- Cavé, Hélène;
- Manouvrier-Hanu, Sylvie
Publication type:
Article
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
Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 2110, doi. 10.1002/humu.23612
By:
- Vuillaume, Marie‐Laure;
- Moizard, Marie‐Pierre;
- Rossignol, Sylvie;
- Cottereau, Edouard;
- Vonwill, Sandrine;
- Alessandri, Jean‐Luc;
- Busa, Tiffany;
- Colin, Estelle;
- Gérard, Marion;
- Giuliano, Fabienne;
- Lambert, Laetitia;
- Lefevre, Mathilde;
- Kotecha, Udhaya;
- Nampoothiri, Sheela;
- Netchine, Irène;
- Raynaud, Martine;
- Brioude, Frédéric;
- Toutain, Annick
Publication type:
Article
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Published in:
Human Mutation, 2018, v. 39, n. 6, p. 790, doi. 10.1002/humu.23428
By:
- Vuillaume, Marie-Laure;
- Moizard, Marie-Pierre;
- Rossignol, Sylvie;
- Cottereau, Edouard;
- Vonwill, Sandrine;
- Alessandri, Jean-Luc;
- Busa, Tiffany;
- Colin, Estelle;
- Gérard, Marion;
- Giuliano, Fabienne;
- Lambert, Laetitia;
- Lefevre, Mathilde;
- Kotecha, Udhaya;
- Nampoothiri, Sheela;
- Netchine, Irène;
- Raynaud, Martine;
- Brioude, Frédéric;
- Toutain, Annick
Publication type:
Article
Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.
Published in:
Human Mutation, 2018, v. 39, n. 3, p. 319, doi. 10.1002/humu.23381
By:
- Létard, Pascaline;
- Drunat, Séverine;
- Vial, Yoann;
- Duerinckx, Sarah;
- Ernault, Anais;
- Amram, Daniel;
- Arpin, Stéphanie;
- Bertoli, Marta;
- Busa, Tiffany;
- Ceulemans, Berten;
- Desir, Julie;
- Doco‐Fenzy, Martine;
- Elalaoui, Siham Chafai;
- Devriendt, Koenraad;
- Faivre, Laurence;
- Francannet, Christine;
- Geneviève, David;
- Gérard, Marion;
- Gitiaux, Cyril;
- Julia, Sophie
Publication type:
Article
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Published in:
Human Mutation, 2009, v. 30, n. 11, p. 1574, doi. 10.1002/humu.21116
By:
- Mougou-Zerelli, Soumaya;
- Thomas, Sophie;
- Szenker, Emmanuelle;
- Audollent, Sophie;
- Elkhartoufi, Nadia;
- Babarit, Candice;
- Romano, Stéphane;
- Salomon, Rémi;
- Amiel, Jeanne;
- Esculpavit, Chantal;
- Gonzales, Marie;
- Escudier, Estelle;
- Leheup, Bruno;
- Loget, Philippe;
- Odent, Sylvie;
- Roume, Joëlle;
- Gérard, Marion;
- Delezoide, Anne-Lise;
- Khung, Suonavy;
- Patrier, Sophie
Publication type:
Article
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Published in:
Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568
By:
- Saugier-Veber, Pascale;
- Bonnet, Céline;
- Afenjar, Alexandra;
- Drouin-Garraud, Valérie;
- Coubes, Christine;
- Fehrenbach, Séverine;
- Holder-Espinasse, Muriel;
- Roume, Joëlle;
- Malan, Valérie;
- Portnoi, Marie-France;
- Jeanne, Nicolas;
- Baumann, Clarisse;
- Héron, Delphine;
- David, Albert;
- Gérard, Marion;
- Bonneau, Dominique;
- Lacombe, Didier;
- Cormier-Daire, Valérie;
- Billette de Villemeur, Thierry;
- Frébourg, Thierry
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
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Published in:
Neurogenetics, 2021, v. 22, n. 3, p. 195, doi. 10.1007/s10048-021-00653-6
By:
- Huynh, Minh-Tuan;
- Gérard, Marion;
- Ranguin, Kara;
- Pichon, Olivier;
- Ghesh, Leila;
- Alfallaj, Khalid;
- Joubert, Madeleine;
- Bézieau, Stéphane;
- Bénéteau, Claire
Publication type:
Article

Found: 30