A. Campos-Xavier

发表

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

Arnold Munnich, A. Munnich, L. Ribeiro, 2003, Human Genetics.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

G. Mortier, R. Tenconi, S. Mrusek, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

J. Beckmann, A. Innes, A. Baxova, 2009, American journal of human genetics.

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

A. Munnich, A. Verloes, L. Faivre, 2001, Human Genetics.

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Brian J. Stevenson, J. Beckmann, G. Superti-Furga, 2014, American journal of medical genetics. Part A.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

R. Bank, A. Zankl, A. Superti-Furga, 2004, American journal of medical genetics. Part A.

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.

L. Bonafė, D. Martinet, A. Campos-Xavier, 2013, European journal of medical genetics.

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

L. Vissers, J. Veltman, H. Brunner, 2011, American journal of human genetics.

Phenotypic and Molecular Characterization of Bruck Syndrome ( Osteogenesis Imperfecta With Contractures of the Large Joints ) Caused by a Recessive Mutation in PLOD 2

R. Bank, A. Zankl, A. Superti-Furga, 2004 .

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

A. Munnich, A. Mégarbané, D. Bacq, 2002, Human Genetics.

Clinical and genetic heterogeneity of Seckel syndrome.

A. Munnich, A. Verloes, S. Lyonnet, 2002, American journal of medical genetics.

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

C. Korff, J. Fluss, L. Bonafė, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Title : A novel mutation in the sulfate transporter gene SLC 26 A 2 ( DTDST ) specific to the Finnish population causes de la Chapelle dysplasia

A. Chapelle, A. Forlino, A. Rossi, 2022 .