Jean Weissenbach

发表

Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1.

M. Nöthen, P. McGuffin, W. Maier, 1995, American journal of medical genetics.

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

J. Weissenbach, A. Bernot, C. Cruaud, 1998, Human molecular genetics.

A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.

J. Weissenbach, C. Petit, S. Chardenoux, 1996, Human molecular genetics.

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

J. Weissenbach, K. Bushby, F. Muntoni, 1997, Journal of medical genetics.

Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families.

G. Gyapay, J. Weissenbach, D. Le Paslier, 1995, American journal of human genetics.

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.

J. Weissenbach, M. Passos-Bueno, I. Richard, 1993, Journal of medical genetics.

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

J. Weissenbach, J. Prud'homme, J. Pouget, 1998, Journal of medical genetics.

A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.

G. Gyapay, C. Fizames, D. Muselet, 1999, Genomics.

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

J. Weissenbach, Í. Lopes-Cendes, F. Andermann, 1996, American journal of human genetics.

Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12

J. Weissenbach, S. Pulst, Í. Lopes-Cendes, 1996, Neurology.

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

J. Weissenbach, A. Bird, S. Bhattacharya, 1996, Journal of medical genetics.

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

J. Weissenbach, J. Burgunder, J. Prud'homme, 2000, Human molecular genetics.

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.

E. Jabs, L. Bird, S. Clarren, 1994, Genomics.

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

J. Weissenbach, J. Burgunder, J. Prud'homme, 1996, Brain : a journal of neurology.

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

J. Weissenbach, J. Prud'homme, J. Fischer, 2000, American journal of human genetics.

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

S. Scherer, H. Massa, P. Poorkaj, 1994, Human molecular genetics.

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.

J. Weissenbach, J. Hazan, H. Plauchu, 1995, Human molecular genetics.

A locus for Fanconi anemia on 16q determined by homozygosity mapping.

E. Lander, D. Botstein, J. Weissenbach, 1996, American journal of human genetics.

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).

J. Weissenbach, D. Bishop, D. Kelsell, 1996, Human molecular genetics.