Laboratoire de Génétique Médicale - LGM - UMRS1112

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.: Accès restreint (Indéfini) Peer reviewed; Bruckmann Valerie, Scheidecker Sophie, Miguet Marguerite, Laquerrière Annie, Romero Norma B, 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, Moerman Alexandre, Pasquier Laurent, Marcorelle Pascale, Magot Armelle, Küsters Benno, Streichenberger Nathalie, Tranchant Christine, Dondaine Nicolas, Schneider Raphael, Gasnier Claire, Calmels Nadège, Kremer Valérie, Nguyen Karine, Perrier Julie, Kamsteeg Erik Jan, Carlier Pierre, Carlier Robert-Yves, Thompson Julie, Boland Anne, Deleuze Jean-François, Fardeau Michel, Zanoteli Edmar, Eymard Bruno, Laporte Jocelyn; Articles Scientifiques; Acta neuropathologica; Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964
Laboratoire de Génétique Médicale - LGM - UMRS1112
Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMR7104

Albinism in a patient with mutations at both the OA1 and OCA3 loci

Albinism in a patient with mutations at both the OA1 and OCA3 loci: Pas de texte intégral; Morice-Picard F, Lasseaux E, Plaisant C, Cailley D, Bouron J, Rooryck C, Lacombe D, Pelletier V, Lipsker D, Perdomo-Trujillo Y, Dollfus Hélène, Arveiler B; Articles Scientifiques; 2016; Pigment Cell and Melanoma Research; Laboratoire de Génétique Médicale - LGM - UMRS1112

Alstrom Syndrome: Mutation Spectrum of ALMS1

Alstrom Syndrome: Mutation Spectrum of ALMS1: Pas de texte intégral; Marshall J, Muller Jean, Collin G, Milan G, Kingsmore S, Dinwiddie D, Farrow E, Miller N, Favaretto F, Maffei P, Dollfus Helene, Vettor R, Naggert J; Articles Scientifiques; 2015; Human Mutation; Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964
Laboratoire de Génétique Médicale - LGM - UMRS1112

Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes

Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes: Pas de texte intégral; Prasad M K, Laouina S, El Alloussi M, Dollfus Helene, Bloch-Zupan Agnès; Articles Scientifiques; Journal of dental research; Laboratoire de Génétique Médicale - LGM - UMRS1112
Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort: Pas de texte intégral; Imhoff O, Marion Vincent, Stoetzel Corinne, Durand M, Holder M, Sigaudy S, Sarda P, Hamel C, Brandt C, Dollfus Helene, Moulin B; Articles Scientifiques; 2011; Clinical Journal of the American Society of Nephrology; Laboratoire de Génétique Médicale - LGM - UMRS1112

Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption: Pas de texte intégral; Marion Vincent, Schlicht D, Mockel A, Caillard S, Imhoff O, Stoetzel Corinne, van Dijk P, Brandt C, Moulin B, Dollfus Helene; Articles Scientifiques; 2011; Kidney International; Laboratoire de Génétique Médicale - LGM - UMRS1112

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response: Pas de texte intégral; Marion Vincent, Mockel A, De Melo C, Obringer Cathy, Claussmann A, Simon A, Messaddeq Nadia, Durand M, Dupuis L, Loeffler J, King P, Mutter-Schmidt Catherine, Petrovsky N, Stoetzel Corinne, Dollfus Helene; Articles Scientifiques; 2012; Cell Metabolism; Laboratoire de Génétique Médicale - LGM - UMRS1112
Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964
Biopathologie de la myéline, neuroprotection et stratégies thérapeutiques - BMNST - UMRS1119

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia: Accès libre Peer reviewed; Curie A, Nazir T, Brun Agnès, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossee M, Leheup B, Philippe C, Laugel Vincent, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Freminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub R, Roy A, des Portes V; Articles Scientifiques; 2014-02-14; Orphanet Journal of Rare Diseases; Laboratoire de Génétique Médicale - LGM - UMRS1112

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

CEP152 is a genome maintenance protein disrupted in Seckel syndrome: Pas de texte intégral; Kalay E, Yigit G, Aslan Y, Brown K, Pohl E, Bicknell L, Kayserili H, Li Y, Tuysuz B, Nurnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner D, Taylor M, Aerts J, Scott C, Milstein K, Dollfus Helene, Wieczorek D, Brunner H, Hurles M, Jackson A, Rauch A, Nurnberg P, Karaguzel A, Wollnik B; Articles Scientifiques; 2011; Nature Genetics; Laboratoire de Génétique Médicale - LGM - UMRS1112

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1: Pas de texte intégral; Crow Y, Chase D, Lowenstein Schmidt J, Szynkiewicz M, Forte G, Gornall H, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid M, Abdel-Salam G, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam E, Bahi-Buisson N, Bailey K, Barnerias C, Barth M, Battini R, Beresford M, Bernard G, Bianchi M, Billette de Villemeur T, Blair E, Bloom M, Burlina A, Carpanelli M, Carvalho D, Castro-Gago M, Cavallini A, Cereda C, Chandler K, Chitayat D, Collins A, Sierra Corcoles C, Cordeiro N, Crichiutti G, Dabydeen L, Dale R, D'Arrigo S, De Goede C, De Laet C, De Waele L, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey M, Fazzi E, Ferrie C, Figueiredo A, Gener B, Goizet C, Gowrinathan N, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King M, Kirk E, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel Vincent, La Piana R, Lim M, Lin J, Linnankivi T, Mackay M, Marom D, Marques Lourenco C, McKee S, Moroni I, Morton J, Moutard M, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades P, Olivieri I, Ostergaard J, Perez-Duenas B, Prendiville J, Ramesh V, Rasmussen M, Regal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers K, Sinha G, Soler D, Spiegel R, Stodberg T, Straussberg R, Swoboda K, Suri M, Tacke U, Tan T, te Water Naude J, Wee Teik K, Thomas M, Till M, Tonduti D, Valente E, Van Coster R, van der Knaap M, Vassallo G, Vijzelaar R, Vogt J, Wallace G, Wassmer E, Webb H, Whitehouse W, Whitney R, Zaki M, Zuberi S, Livingston J, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice G; Articles Scientifiques; 2015; American Journal of Medical Genetics Part A; Laboratoire de Génétique Médicale - LGM - UMRS1112

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis: Pas de texte intégral; M'Hamdi O, Redin C, Stoetzel Corinne, Ouertani I, Chaabouni M, Maazoul F, M'Rad R, Mandel Jean-Louis, Dollfus Helene, Muller Jean, Chaabouni H; Articles Scientifiques; 2014; Clinical Genetics; Laboratoire de Génétique Médicale - LGM - UMRS1112
Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964

Cockayne syndrome: the expanding clinical and mutational spectrum

Cockayne syndrome: the expanding clinical and mutational spectrum: Pas de texte intégral; Laugel Vincent; Articles Scientifiques; 2013; Mechanisms of ageing and development; Laboratoire de Génétique Médicale - LGM - UMRS1112

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice: Accès libre Peer reviewed; Cognard N, Scerbo M, Obringer Cathy, Yu Xiangxiang, Costa F, Haser E, Le D, Stoetzel Corinne, Roux M., Moulin B, Dollfus Helene, Marion Vincent; Articles Scientifiques; 2015-08-13; Cilia; Laboratoire de Génétique Médicale - LGM - UMRS1112

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis: Accès libre Peer reviewed; Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin J, Parodi M, Niasme-Grare M, Zelenika D, Delepine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus Helene, Eliot M, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy M, Sigaudy S, Frances A, Collignon P, Challe G, Couderc R, Lathrop M, Sahel J, Weissenbach J, Petit C, Denoyelle F; Articles Scientifiques; 2011-05-11; Orphanet Journal of Rare Diseases; Laboratoire de Génétique Médicale - LGM - UMRS1112

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar: Accès libre Peer reviewed; Bloch-Zupan Agnès, Huckert Mathilde, Stoetzel Corinne, Meyer Julia, Geoffroy Véronique, Razafindrakoto Rabisoa W, Ralison Saholy N, Randrianaivo Jean-Claude, Ralison Georgette, Andriamasinoro Rija O, Ramanampamaharana Rija H, Randrianazary Solofomanantsoa E, Ralimanana Louise H, Richard Béatrice, Gorry Philippe, Manière Marie-Cécile, Rasoamananjara Jeanne A, Rakoto Alson Simone, Dollfus Helene; Articles Scientifiques; Frontiers in physiology; Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964
Laboratoire de Génétique Médicale - LGM - UMRS1112

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy: Accès libre Peer reviewed; Buena-Atienza Elena, Rüther Klaus, Baumann Britta, Bergholz Richard, Birch David, De Baere Elfride, Dollfus Helene, Greally Marie T, Gustavsson Peter, Hamel Christian P, Heckenlively John R, Leroy Bart P, Plomp Astrid S, Pott Jan Willem R, Rose Katherine, Rosenberg Thomas, Stark Zornitza, Verheij Joke B G M, Weleber Richard, Zobor Ditta, Weisschuh Nicole, Kohl Susanne, Wissinger Bernd; Articles Scientifiques; Scientific reports; Laboratoire de Génétique Médicale - LGM - UMRS1112

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia: Pas de texte intégral; Grau T, Artemyev N, Rosenberg T, Dollfus Helene, Haugen O, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S; Articles Scientifiques; 2011; Human Molecular Genetics; Laboratoire de Génétique Médicale - LGM - UMRS1112

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia: Pas de texte intégral; Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon J, Beydon N, Brouard J, Crestani B, Deschildre A, Desir J, Dollfus Hélène, Leheup B, Tamalet A, Thumerelle C, Vojtek A, Escalier D, Coste A, de Blic J, Clement A, Escudier E, Amselem S; Articles Scientifiques; 2012; Journal of Medical Genetics; Laboratoire de Génétique Médicale - LGM - UMRS1112

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study.

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study.: Accès restreint (Indéfini) Peer reviewed; Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus Helene, Manière M-C, Bloch-Zupan Agnès, Clauss F; Articles Scientifiques; Clinical genetics; Laboratoire de Génétique Médicale - LGM - UMRS1112
Institut de Génétique et de Biologie Moléculaire et Cellulaire - IGBMC - UMRS964

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome: Accès libre Peer reviewed; Frouin E, Laugel Vincent, Durand M, Dollfus Helene, Lipsker D; Articles Scientifiques; 2013-12; JAMA Dermatology; Laboratoire de Génétique Médicale - LGM - UMRS1112

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Islandora displays