Syndrome de Moebius = Moebius syndromeLE MERRER, Martine.Rééducation orthophonique. 2001, Vol 39, Num 205, pp 63-64, issn 0034-222XArticle

Infantile Cortical Hyperostosis (Caffey Disease) : A ReviewKAMOUN-GOLDRAT, Agnès; LE MERRER, Martine.Journal of oral and maxillofacial surgery. 2008, Vol 66, Num 10, pp 2145-2150, issn 0278-2391, 6 p.Article

Animal models of osteogenesis imperfecta and related syndromesKAMOUN-GOLDRAT, Agnès S; LE MERRER, Martine F.Journal of bone and mineral metabolism (English ed.). 2007, Vol 25, Num 4, pp 211-218, issn 0914-8779, 8 p.Article

Classification moléculaire des maladies osseuses constitutionnelles = Molecular classification of constitutional bone diseasesCORMIER-DAIRE, Valérie; LE MERRER, Martine.MT. Médecine thérapeutique. 2001, Vol 7, Num 6, pp 440-444, issn 1264-6520Article

Re-evaluation of kyphomelic dysplasiaLE MERRER, Martine; CORMIER DAIRE, Valerie; MAROTEAUX, Pierre et al.American journal of medical genetics. 2003, Vol 120A, Num 2, pp 289-291, issn 0148-7299, 3 p.Article

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-morquio type II syndrome) : Report of a new patient and review of the literatureMEGARBANE, André; MAROTEAUX, Pierre; CAILLAUD, Catherine et al.American journal of medical genetics. 2004, Vol 125A, Num 1, pp 61-66, issn 0148-7299, 6 p.Article

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturationHERON, Delphine; BAUMANN, Clarisse; BENICHOU, Jean Jacques et al.European journal of pediatrics. 2004, Vol 163, Num 6, pp 323-326, issn 0340-6199, 4 p.Article

Cone-Rod Dystrophy, Growth Hormone Deficiency and Spondyloepiphyseal Dysplasia : Report of a New Case Without NephronophtisisISIDOR, Bertrand; LE MERRER, Martine; RAMOS, Emmanuelle et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 4, pp 788-792, issn 1552-4825, 5 p.Article

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers : Milder variant of osteocraniostenosis or new syndrome?VERLOES, Alain; GAREL, Catherine; ROBERTSON, Stephen et al.American journal of medical genetics. 2005, Vol 137A, Num 2, pp 199-203, issn 0148-7299, 5 p.Article

Underdiagnosis of mild congenital disorders of glycosylation type IaGIURGEA, Irina; MICHEL, Anne; LE MERRER, Martine et al.Pediatric neurology. 2005, Vol 32, Num 2, pp 121-123, issn 0887-8994, 3 p.Article

Spondylometaphyseal dysplasia, east-african type: A new form of early, severe SMD with rounded vertebraeVERLOES, Alain; LEPAGE, Philippe; BAUMANN, Clarisse et al.American journal of medical genetics. 2002, Vol 113, Num 4, pp 362-366, issn 0148-7299, 5 p.Article

A New Osteogenesis Imperfecta With Improvement Over Time Maps to llqKAMOUN-GOLDRAT, Agnès; PANNIER, Stéphanie; HUBER, Céline et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1807-1814, issn 1552-4825, 8 p.Article

Axial Spondylometaphyseal Dysplasia: Confirmation and Further Delineation of a New SMD With Retinal DystrophyISIDOR, Bertrand; BARON, Sabine; KHAU VAN KIEN, Philippe et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 6, pp 1550-1554, issn 1552-4825, 5 p.Article

Three Novel Mutations in the ANK Membrane Protein Cause Craniometaphyseal Dysplasia With Variable Conductive Hearing LossKORNAK, Uwe; BRANCATI, Francesco; LE MERRER, Martine et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 870-874, issn 1552-4825, 5 p.Article

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasiaHEUERTZ, Solange; LE MERRER, Martine; ZABEL, Bernhard et al.European journal of human genetics. 2006, Vol 14, Num 12, pp 1240-1247, issn 1018-4813, 8 p.Article

Desbuquois dysplasia, a reevaluation with abnormal and normal hands: Radiographic manifestationsFAIVRE, Laurence; CORMIER-DAIRE, Valérie; ELIOTT, Alison M et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 48-53, issn 0148-7299, 6 p.Article

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationMEGARBANE, André; BEJJANI, Bassem A; SHAFFER, Lisa G et al.American journal of medical genetics. 2002, Vol 108, Num 1, pp 69-74, issn 0148-7299Article

Prenatal Cortical Hyperostosis With COL1A1 Gene MutationKAMOUN-GOLDRAT, Agnès; MARTINOVIC, Jelena; SAADA, Julien et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 14, pp 1820-1824, issn 1552-4825, 5 p.Article

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndromeLAJEUNIE, Elisabeth; HEUERTZ, Solange; EL GHOUZZI, Vincent et al.European journal of human genetics. 2006, Vol 14, Num 3, pp 289-298, issn 1018-4813, 10 p.Article

Fetal fibrochondrogenesis at 26 weeks' gestationRANDRIANAIVO, Hanitra; HADDAD, Georges; ROMAN, Horatiu et al.Prenatal diagnosis. 2002, Vol 22, Num 9, pp 806-810, issn 0197-3851Article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaALLALI, Slimane; LE GOFF, Carine; DROUIN-GARRAUD, Valéie et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 417-421, issn 0022-2593, 5 p.Article

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disordersCOLOMBANI, Marina; LAURENT, Nicole; FAIVRE, Laurence et al.Prenatal diagnosis. 2006, Vol 26, Num 12, pp 1151-1155, issn 0197-3851, 5 p.Article

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndromeKARMOUS-BENAILLY, Houda; MARTINOVIC, Jelena; ESCULPAVIT, Chantal et al.American journal of human genetics. 2005, Vol 76, Num 3, pp 493-504, issn 0002-9297, 12 p.Article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeSANLAVILLE, Damien; GENEVIEVE, David; PARENT, Philippe et al.European journal of human genetics. 2005, Vol 13, Num 5, pp 690-693, issn 1018-4813, 4 p.Article

Identification of mutations in CUL7 in 3-M syndromeHUBER, Céline; DIAS-SANTAGATA, Dora; DAGONEAU, Nathalie et al.Nature genetics. 2005, Vol 37, Num 10, pp 1119-1124, issn 1061-4036, 6 p.Article