F. Benessy

发表

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

C. Antignac, B. Knebelmann, J. Saus, 1995, Human molecular genetics.

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

D. Le Paslier, D. Paslier, F. Silbermann, 1996, Human molecular genetics.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Corinne Antignac, K. Dahan, O. Gribouval, 2000, Nature Genetics.

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

J. Weissenbach, R. Heilig, F. Silbermann, 1997, Human molecular genetics.

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

J. Weissenbach, R. Heilig, F. Silbermann, 2000, American journal of human genetics.

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

J. Beckmann, J. Weissenbach, C. Antignac, 1993, Nature Genetics.

NPHS 2 , encoding the glomerular protein podocin , is mutated in autosomal recessive steroid-resistant nephrotic syndrome

K. Dahan, O. Gribouval, C. Antignac, 2000 .

Podocin localizes in the kidney to the slit diaphragm area.

O. Gribouval, C. Antignac, M. Gubler, 2002, The American journal of pathology.

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.

J. Beckmann, J. Weissenbach, D. Paslier, 1994, Genomics.

A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q.

J. Weissenbach, D. Le Paslier, F. Silbermann, 1995, Genomics.