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C Antignac

Showing results (61-70 of 103) with videos related to

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Genomics|December 10, 1995
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2qM Konrad, S Saunier, F Silbermann, et al.
Nature Genetics|March 31, 2000
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndromeN Boute, O Gribouval, S Roselli, et al.
American Journal of Human Genetics|December 1, 1993
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study GroupF Hildebrandt, I Singh-Sawhney, B Schnieders, et al.
American Journal of Human Genetics|March 1, 1996
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysisG Jean, A Fuchshuber, M M Town, et al.
The Journal of Clinical Investigation|September 1, 1993
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the youngF Sun, B Knebelmann, M E Pueyo, et al.
American Journal of Human Genetics|July 1, 1992
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragmentsB Knebelmann, G Deschenes, F Gros, et al.
Human Molecular Genetics|March 1, 1996
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisM Konrad, S Saunier, L Heidet, et al.
La Revue De Medecine Interne|June 7, 2005
[Immunohistochemistry contribution in Alport syndrome diagnosis]S Krichen Makni, M Kharrat, M Ben Hmida, et al.
The American Journal of Pathology|March 21, 1998
Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagusL Heidet, E Boye, Y Cai, et al.
Kidney International|November 1, 1992
Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen geneC Antignac, J Zhou, M Sanak, et al.
Pageof 11

Showing results (61-70 of 103) with videos related to

Sort By:
Pageof 11
Genomics|December 10, 1995
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2qM Konrad, S Saunier, F Silbermann, et al.
Nature Genetics|March 31, 2000
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndromeN Boute, O Gribouval, S Roselli, et al.
American Journal of Human Genetics|December 1, 1993
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study GroupF Hildebrandt, I Singh-Sawhney, B Schnieders, et al.
American Journal of Human Genetics|March 1, 1996
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysisG Jean, A Fuchshuber, M M Town, et al.
The Journal of Clinical Investigation|September 1, 1993
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the youngF Sun, B Knebelmann, M E Pueyo, et al.
American Journal of Human Genetics|July 1, 1992
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragmentsB Knebelmann, G Deschenes, F Gros, et al.
Human Molecular Genetics|March 1, 1996
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisM Konrad, S Saunier, L Heidet, et al.
La Revue De Medecine Interne|June 7, 2005
[Immunohistochemistry contribution in Alport syndrome diagnosis]S Krichen Makni, M Kharrat, M Ben Hmida, et al.
The American Journal of Pathology|March 21, 1998
Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagusL Heidet, E Boye, Y Cai, et al.
Kidney International|November 1, 1992
Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen geneC Antignac, J Zhou, M Sanak, et al.
Pageof 11