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Genetic homogeneity of the Camurati–Engelmann disease.
Published in:
Clinical Genetics, 2000, v. 58, n. 2, p. 150, doi. 10.1034/j.1399-0004.2000.580211.x
By:
- Xavier, Ana Belinda Cf;
- Saraiva, Jorge M;
- Le Merrer, Martine;
- Dagoneau, Nathalie;
- Huber, Céline;
- Penet, Clotilde;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Published in:
2022
By:
- Guasto, Alessandra;
- Dubail, Johanne;
- Aguilera-Albesa, Sergio;
- Paganini, Chiara;
- Vanhulle, Catherine;
- Haouari, Walid;
- Gorría-Redondo, Nerea;
- Aznal-Sainz, Elena;
- Boddaert, Nathalie;
- Planas-Serra, Laura;
- Schlüter, Agatha;
- Vélez-Santamaría, Valentina;
- Verdura, Edgard;
- Bruneel, Arnaud;
- Rossi, Antonio;
- Huber, Céline;
- Pujol, Aurora;
- Cormier-Daire, Valérie
Publication type:
journal article
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 639, doi. 10.1002/ajmg.a.61050
By:
- Bizaoui, Varoona;
- Huber, Céline;
- Kohaut, Eva;
- Roume, Joelle;
- Bonnière, Maryse;
- Attié‐Bitach, Tania;
- Cormier‐Daire, Valérie
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
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200
By:
- Huber, Céline;
- Delezoide, Anee-Lise;
- Guimiot, Fabien;
- Baumann, Clarisse;
- Malan, Valérie;
- Le Merrer, Martine;
- Da Silva, Daniela Bezerra;
- Bonneau, Dominique;
- Chatelain, Pierre;
- Chu, Carol;
- Clark, Robin;
- Cox, Helen;
- Edery, Patrick;
- Edouard, Thomas;
- Fano, Virginia;
- Gibson, Kate;
- Gillessen-Kaesbach, Gabriele;
- Maria-Luisa Giovannucci-Uzielli;
- Graul-Neumann, Luitgard Margarete;
- van Hagen, Johana-Maria
Publication type:
Article
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1349, doi. 10.1002/jimd.12291
By:
- Haouari, Walid;
- Dubail, Johanne;
- Lounis‐Ouaras, Samra;
- Prada, Pierre;
- Bennani, Rizk;
- Roseau, Charles;
- Huber, Céline;
- Afenjar, Alexandra;
- Colin, Estelle;
- Vuillaumier‐Barrot, Sandrine;
- Seta, Nathalie;
- Foulquier, François;
- Poüs, Christian;
- Cormier‐Daire, Valérie;
- Bruneel, Arnaud
Publication type:
Article
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 16, p. 2720, doi. 10.1093/hmg/ddz091
By:
- Dupont, Marie Alice;
- Humbert, Camille;
- Huber, Céline;
- Siour, Quentin;
- Guerrera, Ida Chiara;
- Jung, Vincent;
- Christensen, Anni;
- Pouliet, Aurore;
- Garfa-Traoré, Meriem;
- Nitschké, Patrick;
- Injeyan, Marie;
- Millar, Kathryn;
- Chitayat, David;
- Shannon, Patrick;
- Girisha, Katta Mohan;
- Shukla, Anju;
- Mechler, Charlotte;
- Lorentzen, Esben;
- Benmerah, Alexandre;
- Cormier-Daire, Valérie
Publication type:
Article
Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis.
Published in:
Hormone Research in Paediatrics, 2011, v. 76, n. 3, p. 178, doi. 10.1159/000329359
By:
- Salmon-Musial, Anne-Sophie;
- Rosilio, Myriam;
- David, Michel;
- Huber, Céline;
- Pichot, Emmanuel;
- Cormier-Daire, Valérie;
- Nicolino, Marc
Publication type:
Article
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05191-8
By:
- Dubail, Johanne;
- Huber, Céline;
- Chantepie, Sandrine;
- Sonntag, Stephan;
- Tüysüz, Beyhan;
- Mihci, Ercan;
- Gordon, Christopher T.;
- Steichen-Gersdorf, Elisabeth;
- Amiel, Jeanne;
- Nur, Banu;
- Stolte-Dijkstra, Irene;
- van Eerde, Albertien M.;
- van Gassen, Koen L.;
- Breugem, Corstiaan C.;
- Stegmann, Alexander;
- Lekszas, Caroline;
- Maroofian, Reza;
- Karimiani, Ehsan Ghayoor;
- Bruneel, Arnaud;
- Seta, Nathalie
Publication type:
Article
A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 938, doi. 10.1002/ajmg.a.33871
By:
- Reish, Orit;
- Huber, Céline;
- Altarescu, Gheona;
- Chapman-Shimshoni, Daphne;
- Levy-Lahad, Ephrat;
- Renbaum, Paul;
- Mashevich, Maya;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1731, doi. 10.1002/humu.23321
By:
- Ghosh, Somadri;
- Huber, Céline;
- Siour, Quentin;
- Sousa, Sérgio B.;
- Wright, Michael;
- Cormier-Daire, Valérie;
- Erneux, Christophe
Publication type:
Article
Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome.
Published in:
Human Mutation, 2015, v. 36, n. 2, p. 187, doi. 10.1002/humu.22729
By:
- Bacrot, Séverine;
- Doyard, Mathilde;
- Huber, Céline;
- Alibeu, Olivier;
- Feldhahn, Niklas;
- Lehalle, Daphné;
- Lacombe, Didier;
- Marlin, Sandrine;
- Nitschke, Patrick;
- Petit, Florence;
- Vazquez, Marie‐Paule;
- Munnich, Arnold;
- Cormier‐Daire, Valérie
Publication type:
Article
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Published in:
Human Mutation, 2012, v. 33, n. 8, p. 1261, doi. 10.1002/humu.22104
By:
- Nizon, Mathilde;
- Huber, Céline;
- De Leonardis, Fabio;
- Merrina, Rodolphe;
- Forlino, Antonella;
- Fradin, Mélanie;
- Tuysuz, Beyhan;
- Abu-Libdeh, Bassam Y.;
- Alanay, Yasemin;
- Albrecht, Beate;
- Al-Gazali, Lihadh;
- Basaran, Sarenur Yilmaz;
- Clayton-Smith, Jill;
- Désir, Julie;
- Gill, Harinder;
- Greally, Marie T.;
- Koparir, Erkan;
- van Maarle, Merel C;
- MacKay, Sara;
- Mortier, Geert
Publication type:
Article
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 9, p. 1017, doi. 10.1093/hmg/11.9.1017
By:
- Lefebvre, Suzie;
- Burlet, Philippe;
- Viollet, Louis;
- Bertrandy, Solange;
- Huber, Céline;
- Belser, Caroline;
- Munnich, Arnold
Publication type:
Article
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Published in:
Journal of Bone & Mineral Research, 2024, v. 39, n. 3, p. 287, doi. 10.1093/jbmr/zjad020
By:
- Dubail, Johanne;
- Rondeau, Sophie;
- Michot, Caroline;
- Baujat, Geneviève;
- Capri, Yline;
- Thévenon, Julien;
- Charpie, Maelle;
- Pejin, Zagorka;
- Phan, Gilles;
- Huber, Céline;
- Cormier-Daire, Valérie
Publication type:
Article
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Published in:
Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1642, doi. 10.1002/jbmr.4639
By:
- Reilly, Madeline Louise;
- Ain, Noor ul;
- Muurinen, Mari;
- Tata, Alice;
- Huber, Céline;
- Simon, Marleen;
- Ishaq, Tayyaba;
- Shaw, Nick;
- Rusanen, Salla;
- Pekkinen, Minna;
- Högler, Wolfgang;
- Knapen, Maarten F. C. M.;
- van den Born, Myrthe;
- Saunier, Sophie;
- Naz, Sadaf;
- Cormier‐Daire, Valérie;
- Benmerah, Alexandre;
- Makitie, Outi
Publication type:
Article
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
Published in:
Journal of Bone & Mineral Research, 2021, v. 36, n. 2, p. 283, doi. 10.1002/jbmr.4177
By:
- Costantini, Alice;
- Alm, Jessica J;
- Tonelli, Francesca;
- Valta, Helena;
- Huber, Céline;
- Tran, Anh N;
- Daponte, Valentina;
- Kirova, Nadi;
- Kwon, Yong‐Uk;
- Bae, Jung Yun;
- Chung, Woo Yeong;
- Tan, Shengjiang;
- Sznajer, Yves;
- Nishimura, Gen;
- Näreoja, Tuomas;
- Warren, Alan J;
- Cormier‐Daire, Valérie;
- Kim, Ok‐Hwa;
- Forlino, Antonella;
- Cho, Tae‐Joon
Publication type:
Article
Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
Published in:
Journal of Bone & Mineral Research, 2020, v. 35, n. 8, p. 1470, doi. 10.1002/jbmr.4011
By:
- Dubail, Johanne;
- Brunelle, Perrine;
- Baujat, Geneviève;
- Huber, Céline;
- Doyard, Mathilde;
- Michot, Caroline;
- Chavassieux, Pascale;
- Khairouni, Abdeslam;
- Topouchian, Vicken;
- Monnot, Sophie;
- Koumakis, Eugénie;
- Cormier‐Daire, Valérie
Publication type:
Article
The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 5, p. 775, doi. 10.1093/hmg/8.5.775
By:
- Bertrandy, Solange;
- Burlet, Philippe;
- Clermont, Olivier;
- Huber, Céline;
- Fondrat, Christian;
- Thierry-Mieg, Danielle;
- Munnich, Arnold;
- Lefebvre, Suzie
Publication type:
Article

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