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C Antignac

Showing results (71-80 of 103) with videos related to

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Advances in Experimental Medicine and Biology|February 23, 1999
Functional study of two V2 vasopressin mutant receptors related to NDI. P322S and P322HD Morin, Y Ala, N Sabatier, et al.
Kidney International|February 22, 2008
A missense mutation in podocin leads to early and severe renal disease in miceA Philippe, S Weber, E L Esquivel, et al.
Genomics|July 15, 1994
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneityM Medhioub, D Cherif, F Benessy, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 11, 1991
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkageJ S Beckmann, I Richard, D Hillaire, et al.
Clinical Genetics|November 24, 1999
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patientsD Cruz-Robles, R García-Torres, C Antignac, et al.
Nature Genetics|April 1, 1993
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2pC Antignac, C H Arduy, J S Beckmann, et al.
Human Molecular Genetics|March 21, 1998
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisisS Saunier, J Calado, R Heilig, et al.
The Journal of Clinical Investigation|March 1, 1994
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expressionC Antignac, B Knebelmann, L Drouot, et al.
American Journal of Human Genetics|October 30, 1998
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndromeE Boye, G Mollet, L Forestier, et al.
Journal of Medical Genetics|April 5, 2005
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohortsA M Sharp, L M Messiaen, G Page, et al.
Pageof 11

Showing results (71-80 of 103) with videos related to

Sort By:
Pageof 11
Advances in Experimental Medicine and Biology|February 23, 1999
Functional study of two V2 vasopressin mutant receptors related to NDI. P322S and P322HD Morin, Y Ala, N Sabatier, et al.
Kidney International|February 22, 2008
A missense mutation in podocin leads to early and severe renal disease in miceA Philippe, S Weber, E L Esquivel, et al.
Genomics|July 15, 1994
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneityM Medhioub, D Cherif, F Benessy, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 11, 1991
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkageJ S Beckmann, I Richard, D Hillaire, et al.
Clinical Genetics|November 24, 1999
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patientsD Cruz-Robles, R García-Torres, C Antignac, et al.
Nature Genetics|April 1, 1993
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2pC Antignac, C H Arduy, J S Beckmann, et al.
Human Molecular Genetics|March 21, 1998
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisisS Saunier, J Calado, R Heilig, et al.
The Journal of Clinical Investigation|March 1, 1994
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expressionC Antignac, B Knebelmann, L Drouot, et al.
American Journal of Human Genetics|October 30, 1998
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndromeE Boye, G Mollet, L Forestier, et al.
Journal of Medical Genetics|April 5, 2005
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohortsA M Sharp, L M Messiaen, G Page, et al.
Pageof 11