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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
By:
- Biancalana, Valérie;
- Rendu, John;
- Chaussenot, Annabelle;
- Mecili, Helen;
- Bieth, Eric;
- Fradin, Mélanie;
- Mercier, Sandra;
- Michaud, Maud;
- Nougues, Marie-Christine;
- Pasquier, Laurent;
- Sacconi, Sabrina;
- Romero, Norma B.;
- Marcorelles, Pascale;
- Authier, François Jérôme;
- Gelot Bernabe, Antoinette;
- Uro-Coste, Emmanuelle;
- Cances, Claude;
- Isidor, Bertrand;
- Magot, Armelle;
- Minot-Myhie, Marie-Christine
Publication type:
Article
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Published in:
2015
By:
- Mercier, Sandra;
- Küry, Sébastien;
- Salort-Campana, Emmanuelle;
- Magot, Armelle;
- Agbim, Uchenna;
- Besnard, Thomas;
- Bodak, Nathalie;
- Bou-Hanna, Chantal;
- Bréhéret, Flora;
- Brunelle, Perrine;
- Caillon, Florence;
- Chabrol, Brigitte;
- Cormier-Daire, Valérie;
- David, Albert;
- Eymard, Bruno;
- Faivre, Laurence;
- Figarella-Branger, Dominique;
- Fleurence, Emmanuelle;
- Ganapathi, Mythily;
- Gherardi, Romain
Publication type:
journal article
Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2616, doi. 10.3390/ijms22052616
By:
- Mangin, Antoine;
- de Pontual, Laure;
- Tsai, Yu-Chih;
- Monteil, Laetitia;
- Nizon, Mathilde;
- Boisseau, Pierre;
- Mercier, Sandra;
- Ziegle, Janet;
- Harting, John;
- Heiner, Cheryl;
- Gourdon, Geneviève;
- Tomé, Stéphanie;
- Tegeder, Irmgard
Publication type:
Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
By:
- Legendre, Marine;
- Abadie, Véronique;
- Attié‐Bitach, Tania;
- Philip, Nicole;
- Busa, Tiffany;
- Bonneau, Dominique;
- Colin, Estelle;
- Dollfus, Hélène;
- Lacombe, Didier;
- Toutain, Annick;
- Blesson, Sophie;
- Julia, Sophie;
- Martin‐Coignard, Dominique;
- Geneviève, David;
- Leheup, Bruno;
- Odent, Sylvie;
- Jouk, Pierre‐Simon;
- Mercier, Sandra;
- Faivre, Laurence;
- Vincent‐Delorme, Catherine
Publication type:
Article
Growth charts in DYRK1A syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
By:
- Lanvin, Pierre‐Louis;
- Goronflot, Thomas;
- Isidor, Bertrand;
- Nizon, Mathilde;
- Durand, Benjamin;
- El Chehadeh, Salima;
- Geneviève, David;
- Ruault, Valentin;
- Fradin, Mélanie;
- Pasquier, Laurent;
- Thévenon, Julien;
- Delobel, Bruno;
- Burglen, Lydie;
- Afenjar, Alexandra;
- Faivre, Laurence;
- Francannet, Christine;
- Guerrot, Anne‐Marie;
- Goldenberg, Alice;
- Mercier, Sandra;
- Héron, Delphine
Publication type:
Article
Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X-linked inheritance.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1390, doi. 10.1002/ajmg.a.35871
By:
- Isidor, Bertrand;
- Lefebvre, Tiphaine;
- Barbarot, Sébastien;
- Perrier, Julie;
- Mercier, Sandra;
- Péréon, Yann;
- Le Caignec, Cédric;
- David, Albert
Publication type:
Article
Protéasomopathies neurodéveloppementales : une nouvelle classe de maladies du neurodéveloppement causées par une dysfonction du protéasome.
Published in:
Médecine Sciences, 2024, v. 40, n. 2, p. 176, doi. 10.1051/medsci/2023221
By:
- Cuinat, Silvestre;
- Bézieau, Stéphane;
- Deb, Wallid;
- Mercier, Sandra;
- Vignard, Virginie;
- Toutain, Bérénice;
- Isidor, Bertrand;
- Küry, Sébastien;
- Ebstein, Frédéric
Publication type:
Article
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
Published in:
2015
By:
- Mercier, Sandra;
- Magot, Armelle;
- Caillon, Florence;
- Isidor, Bertrand;
- David, Albert;
- Ferrer, Xavier;
- Vital, Anne;
- Coquet, Michelle;
- Penttilä, Sini;
- Udd, Bjarne;
- Mussini, Jean‐Marie;
- Pereon, Yann
Publication type:
journal article
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
Published in:
Andrologia, 2021, v. 53, n. 1, p. 1, doi. 10.1111/and.13865
By:
- Hage, Mirella;
- Drui, Delphine;
- Francou, Bruno;
- Mercier, Sandra;
- Guiochon‐Mantel, Anne;
- Belaisch‐Allart, Joelle;
- Péréon, Yann;
- Cazabat, Laure;
- De Mazancourt, Philippe;
- Raffin‐Sanson, Marie Laure
Publication type:
Article
New insights into genotype-phenotype correlation for GLI3 mutations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 1, p. 92, doi. 10.1038/ejhg.2014.62
By:
- Démurger, Florence;
- Ichkou, Amale;
- Mougou-Zerelli, Soumaya;
- Le Merrer, Martine;
- Goudefroye, Géraldine;
- Delezoide, Anne-Lise;
- Quélin, Chloé;
- Manouvrier, Sylvie;
- Baujat, Geneviève;
- Fradin, Mélanie;
- Pasquier, Laurent;
- Megarbané, André;
- Faivre, Laurence;
- Baumann, Clarisse;
- Nampoothiri, Sheela;
- Roume, Joëlle;
- Isidor, Bertrand;
- Lacombe, Didier;
- Delrue, Marie-Ange;
- Mercier, Sandra
Publication type:
Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 8, p. 855, doi. 10.1038/ejhg.2012.269
By:
- Mercier, Sandra;
- Toutain, Annick;
- Toussaint, Aurélie;
- Raynaud, Martine;
- de Barace, Claire;
- Marcorelles, Pascale;
- Pasquier, Laurent;
- Blayau, Martine;
- Espil, Caroline;
- Parent, Philippe;
- Journel, Hubert;
- Lazaro, Leila;
- Andoni Urtizberea, Jon;
- Moerman, Alexandre;
- Faivre, Laurence;
- Eymard, Bruno;
- Maincent, Kim;
- Gherardi, Romain;
- Chaigne, Denys;
- Ben Yaou, Rabah
Publication type:
Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.74
By:
- Mercier, Sandra;
- Toutain, Annick;
- Toussaint, Aurélie;
- Raynaud, Martine;
- de Barace, Claire;
- Marcorelles, Pascale;
- Pasquier, Laurent;
- Blayau, Martine;
- Pénisson-Besnier, Isabelle;
- Romero, Norma;
- Espil, Caroline;
- Parent, Philippe;
- Journel, Hubert;
- Lazaro, Leila;
- Andoni Urtizberea, Jon;
- Moerman, Alexandre;
- Faivre, Laurence;
- Eymard, Bruno;
- Maincent, Kim;
- Gherardi, Romain
Publication type:
Article
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 602, doi. 10.1038/ejhg.2010.225
By:
- Cognet, Marie;
- Nougayrede, Agnés;
- Malan, Valérie;
- Callier, Patrick;
- Cretolle, Celia;
- Faivre, Laurence;
- Genevieve, David;
- Goldenberg, Alice;
- Heron, Delphine;
- Mercier, Sandra;
- Philip, Nicole;
- Sigaudy8, Sabine;
- Verloes, Alain;
- Sarnacki, Sabine;
- Munnich, Arnold;
- Vekemans, Michel;
- Lyonnet, Stanislas;
- Etchevers, Heather;
- Amiel, Jeanne;
- de Pontual, Loïc
Publication type:
Article
Clinical utility gene card for: Holoprosencephaly.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.110
By:
- Dubourg, Christèle;
- David, Véronique;
- Gropman, Andrea;
- Mercier, Sandra;
- Muenke, Maximilian;
- Odent, Sylvie;
- Pineda-Alvarez, Daniel E;
- Roessler, Erich
Publication type:
Article
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Published in:
Netherlands Heart Journal, 2023, v. 31, n. 7/8, p. 300, doi. 10.1007/s12471-023-01798-9
By:
- Marsili, Luisa;
- van Lint, Freyja H. M.;
- Russo, Francesco;
- van Spaendonck-Zwarts, Karin Y.;
- Ader, Flavie;
- Bichon, Marie-Line;
- Faivre, Laurence;
- Houweling, Arjan C.;
- Isidor, Bertrand;
- Lekanne Deprez, Ronald H.;
- Cox, Moniek G. P. J.;
- Wilde, Arthur A. M.;
- Mazel, Benoit;
- Mercier, Sandra;
- Dooijes, Dennis;
- Millat, Gilles;
- Nguyen, Karine;
- Post, Jan G.;
- Richard, Pascale;
- van de Beek, Irma
Publication type:
Article
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?
Published in:
Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1370905
By:
- Vignard, Virginie;
- Baruteau, Alban-Elouen;
- Toutain, Bérénice;
- Mercier, Sandra;
- Isidor, Bertrand;
- Redon, Richard;
- Schott, Jean-Jacques;
- Küry, Sébastien;
- Bézieau, Stéphane;
- Monsoro-Burq, Anne H.;
- Ebstein, Frédéric
Publication type:
Article
Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.
Published in:
Pediatric Dermatology, 2023, v. 40, n. 1, p. 182, doi. 10.1111/pde.15133
By:
- Hoeger, Peter H.;
- Koehler, Lisa M.;
- Reipschlaeger, Maria;
- Mercier, Sandra
Publication type:
Article
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Published in:
Journal of Neurology, 2024, v. 271, n. 7, p. 4008, doi. 10.1007/s00415-024-12298-0
By:
- Fernández-Eulate, Gorka;
- Alfieri, Girolamo;
- Spinazzi, Marco;
- Ackermann-Bonan, Isabelle;
- Duval, Fanny;
- Solé, Guilhem;
- Caillon, Florence;
- Mercier, Sandra;
- Pereon, Yann;
- Magot, Armelle;
- Pegat, Antoine;
- Salort-Campana, Emmanuelle;
- Chabrol, Brigitte;
- Gorokhova, Svetlana;
- Krahn, Martin;
- Biancalana, Valerie;
- Evangelista, Teresinha;
- Behin, Anthony;
- Metay, Corinne;
- Stojkovic, Tanya
Publication type:
Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
By:
- Dieterich, Klaus;
- Quijano-Roy, Susana;
- Monnier, Nicole;
- Zhou, Jie;
- Fauré, Julien;
- Smirnow, Daniela Avila;
- Carlier, Robert;
- Laroche, Cécile;
- Marcorelles, Pascale;
- Mercier, Sandra;
- Mégarbané, André;
- Odent, Sylvie;
- Romero, Norma;
- Sternberg, Damien;
- Marty, Isabelle;
- Estournet, Brigitte;
- Jouk, Pierre-Simon;
- Melki, Judith;
- Lunardi, Joël
Publication type:
Article
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.
Published in:
PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149717
By:
- Curie, Aurore;
- Brun, Amandine;
- Cheylus, Anne;
- Reboul, Anne;
- Nazir, Tatjana;
- Bussy, Gérald;
- Delange, Karine;
- Paulignan, Yves;
- Mercier, Sandra;
- David, Albert;
- Marignier, Stéphanie;
- Merle, Lydie;
- de Fréminville, Bénédicte;
- Prieur, Fabienne;
- Till, Michel;
- Mortemousque, Isabelle;
- Toutain, Annick;
- Bieth, Eric;
- Touraine, Renaud;
- Sanlaville, Damien
Publication type:
Article
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03326-3
By:
- Desguerre, Isabelle;
- Barrois, Rémi;
- Audic, Frédérique;
- Barnerias, Christine;
- Chabrol, Brigitte;
- Davion, Jean Baptiste;
- Durigneux, Julien;
- Espil-Taris, Caroline;
- Gomez-Garcia de la Banda, Marta;
- Guichard, Marine;
- Isapof, Arnaud;
- Nougues, Marie Christine;
- Laugel, Vincent;
- Le Goff, Laure;
- Mercier, Sandra;
- Pervillé, Anne;
- Richelme, Christian;
- Thibaud, Marie;
- Sarret, Catherine;
- Schweitzer, Cyril
Publication type:
Article
RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Published in:
Movement Disorders, 2021, v. 36, n. 3, p. 771, doi. 10.1002/mds.28371
By:
- Sainte Agathe, Jean‐Madeleine;
- Mercier, Sandra;
- Mahé, Jean‐Yves;
- Péréon, Yann;
- Buratti, Julien;
- Tissier, Laurène;
- Kol, Bophara;
- Said, Samia Ait;
- Leguern, Éric;
- Banneau, Guillaume;
- Stévanin, Giovanni
Publication type:
Article
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Published in:
Acta Neuropathologica, 2017, v. 134, n. 6, p. 889, doi. 10.1007/s00401-017-1748-0
By:
- Biancalana, Valérie;
- Scheidecker, Sophie;
- Miguet, Marguerite;
- Laquerrière, Annie;
- Romero, Norma;
- Stojkovic, Tanya;
- Abath Neto, Osorio;
- Mercier, Sandra;
- Voermans, Nicol;
- Tanner, Laura;
- Rogers, Curtis;
- Ollagnon-Roman, Elisabeth;
- Roper, Helen;
- Boutte, Célia;
- Ben-Shachar, Shay;
- Lornage, Xavière;
- Vasli, Nasim;
- Schaefer, Elise;
- Laforet, Pascal;
- Pouget, Jean
Publication type:
Article
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 354, doi. 10.1002/humu.22952
By:
- Isidor, Bertrand;
- Küry, Sébastien;
- Rosenfeld, Jill A.;
- Besnard, Thomas;
- Schmitt, Sébastien;
- Joss, Shelagh;
- Davies, Sally J;
- Roger Lebel, Robert;
- Henderson, Alex;
- Schaaf, Christian P.;
- Streff, Haley E.;
- Yang, Yaping;
- Jain, Vani;
- Chida, Nodoka;
- Latypova, Xenia;
- Caignec, Cédric Le;
- Cogné, Benjamin;
- Mercier, Sandra;
- Vincent, Marie;
- Colin, Estelle
Publication type:
Article
NOTCH, a new signaling pathway implicated in holoprosencephaly.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 6, p. 1122, doi. 10.1093/hmg/ddq556
By:
- Dupé, Valérie;
- Rochard, Lucie;
- Mercier, Sandra;
- Le Pétillon, Yann;
- Gicquel, Isabelle;
- Bendavid, Claude;
- Bourrouillou, Georges;
- Kini, Usha;
- Thauvin-Robinet, Christel;
- Bohan, Timothy P.;
- Odent, Sylvie;
- Dubourg, Christèle;
- David, Véronique
Publication type:
Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0412-6
By:
- Eldomery, Mohammad K.;
- Coban-Akdemir, Zeynep;
- Harel, Tamar;
- Rosenfeld, JillA.;
- Gambin, Tomasz;
- Stray-Pedersen, Asbjørg;
- Küry, Sébastien;
- Mercier, Sandra;
- Lessel, Davor;
- Denecke, Jonas;
- Wiszniewski, Wojciech;
- Penney, Samantha;
- Pengfei Liu;
- Weimin Bi;
- Lalani, Seema R.;
- Schaaf, Christian P.;
- Wangler, Michael F.;
- Bacino, Carlos A.;
- Lewis, Richard Alan;
- Potocki, Lorraine
Publication type:
Article

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