Les pathologies génétiques ostéoarticulaires à l'ère de la biologie moléculaire = Genetic osteoarticular diseases under the molecular biology spotlightLACOMBE, Didier.Revue du rhumatisme (Ed. française). 2004, Vol 71, Num 10-11, pp 865-871, issn 1169-8330, 7 p.Conference Paper

Syndrome de Rubinstein Taybi = Rubinstein Taybi syndromeLACOMBE, Didier.Rééducation orthophonique. 2001, Vol 39, Num 205, pp 81-84, issn 0034-222XArticle

LRP5 : le gène muté dans le syndrome d'ostéoporose avec pseudogliome et le phénotype de masse osseuse élevée = LRP5 Mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disordersLEVASSEUR, Régis; LACOMBE, Didier; DE VERNEJOUL, Marie Christine et al.Revue du rhumatisme (Ed. française). 2005, Vol 72, Num 5, pp 388-396, issn 1169-8330, 9 p.Article

Annonce du diagnostic d'une maladie génétique et prise en charge psychologique des patients et de leur entourage = Announce of the diagnosis of a genetic disease and psychological care of the patient and their familyLACOMBE, Didier; TOUSSAINT, Eva.La Presse médicale (1983). 2007, Vol 36, issn 0755-4982, 1S20-1S25, HS1Conference Paper

Limb body wall complex and amniotic band sequence in sibsLEVY, Ronaldo; LACOMBE, Didier; ROUGIER, Yannick et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 22, pp 2682-2687, issn 1552-4825, 6 p.Article

Costello syndrome and neurological abnormalitiesDELRUE, Marie-Ange; CHATEIL, Jean-Francois; ARVEILER, Benoit et al.American journal of medical genetics. 2003, Vol 123A, Num 3, pp 301-305, issn 0148-7299, 5 p.Article

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström SyndromesREDIN, Claire; LE GRAS, Stéphanie; TILL, Marianne et al.Journal of medical genetics. 2012, Vol 49, Num 8, pp 502-512, issn 0022-2593, 11 p.Article

A Homozygous Balanced Reciprocal Translocation Suggests LINC00237 as a Candidate Gene for MOMO (Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities) SyndromePHI YEN VU; TOUTAIN, Jérôme; PHILIPPE, Christophe et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2849-2856, issn 1552-4825, 8 p.Article

The Male Phenotype in Osteopathia Striata Congenita With Cranial SclerosisHOLMAN, Sarah K; DANIEL, Phil; STEINER, Bernhard et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 10, pp 2397-2408, issn 1552-4825, 12 p.Article

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromeNURDEN, Paquita; DEBILI, Najet; DANIEL LAMAZIERE, Jean-Marie et al.Blood. 2011, Vol 118, Num 22, pp 5928-5937, issn 0006-4971, 10 p.Article

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformationROORYCK, Caroline; BURGELIN, Ingrid; STEF, Marianne et al.European journal of medical genetics. 2008, Vol 51, Num 1, pp 74-80, issn 1769-7212, 7 p.Article

Cardio -facio -cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway : Genotype-phenotype relationships and overlap with Costello syndromeNAVA, Caroline; HANNA, Nadine; PASMANT, Eric et al.Journal of medical genetics. 2007, Vol 44, Num 12, pp 763-771, issn 0022-2593, 9 p.Article

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populationsALBERT, Sébastien; BLONS, Hélène; DELOBEL, Bruno et al.European journal of human genetics. 2006, Vol 14, Num 6, pp 773-779, issn 1018-4813, 7 p.Article

Further delineation of Kabuki syndrome in 48 well-defined new individualsARMSTRONG, Linlea; EL MONEIM, Azza Abd; HALL, Bryan D et al.American journal of medical genetics. 2005, Vol 132A, Num 3, pp 265-272, issn 0148-7299, 8 p.Article

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)SZNAJER, Yves; BAUMANN, Clarisse; VULLIAMY, Tomy et al.European journal of pediatrics. 2003, Vol 162, Num 12, pp 863-867, issn 0340-6199, 5 p.Article

Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR geneREBOUL, Marie-Pierre; LAHARIE, David; AMOURETTI, Michel et al.Gastroentérologie clinique et biologique. 2003, Vol 27, Num 8-9, pp 821-824, issn 0399-8320, 4 p.Article

Search for a Gene Responsible for Floating-Harbor Syndrome on Chromosome 12q15q21.1LOPEZ, Estelle; CALLIER, Patrick; SANLAVILLE, Damien et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 333-339, issn 1552-4825, 7 p.Article

Molecular Characterization of 1q44 Microdeletion in 11 Patients Reveals Three Candidate Genes for Intellectual Disability and SeizuresTHIERRY, Gaelle; BENETEAU, Claire; CAILLEY, Dorothee et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1633-1640, issn 1552-4825, 8 p.Article

The Phenotype of Floating—Harbor Syndrome in 10 PatientsWHITE, Susan M; MORGAN, Angela; DA COSTA, Annette et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 821-829, issn 1552-4825, 9 p.Article

Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon-Lefèvre SyndromeJOUARY, Thomas; GOIZET, Cyril; TAIEB, Alain et al.Journal of investigative dermatology. 2008, Vol 128, Num 2, pp 322-325, issn 0022-202X, 4 p.Article

Poikiloderma With Neutropenia, Clericuzio Type, in a Family From MoroccoMOSTEFAI, Rahima; MORICE-PICARD, Fanny; BORALEVI, Franck et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 21, pp 2762-2769, issn 1552-4825, 8 p.Article

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chipLEVEQUE, Marianne; MARLIN, Sandrine; FRANCANNET, Christine et al.European journal of human genetics. 2007, Vol 15, Num 11, pp 1145-1155, issn 1018-4813, 11 p.Article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionCROW, Yanick J; LEITCH, Andrea; BAUMANN, Clarisse et al.Nature genetics. 2006, Vol 38, Num 8, pp 910-916, issn 1061-4036, 7 p.Article

Les personnes porteuses de trisomie 21CHAMPEAUX, Jean-Paul; CLEMENT, Régine; DE COMPIEGNE, Hélène et al.Réadaptation (Paris). 2006, Num 533, pp 5-56, issn 0484-0305, 52 p.Article

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationKOOLEN, David A; REARDON, William; VELTMAN, Joris A et al.European journal of human genetics. 2005, Vol 13, Num 9, pp 1019-1024, issn 1018-4813, 6 p.Article