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C Antignac

Showing results (81-90 of 103) with videos related to

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Pediatric Nephrology (Berlin, Germany)|January 23, 1998
Chronic renal failure and cranioectodermal dysplasia: a further stepM Tsimaratos, E Bérard, S Sigaudy, et al.
Nature Genetics|September 1, 1994
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndromeT Mochizuki, H H Lemmink, M Mariyama, et al.
Organogenesis|June 13, 2009
The European renal genome project: an integrated approach towards understanding the genetics of kidney development and diseaseTe Willnow, C Antignac, Aw Brändli, et al.
American Journal of Human Genetics|December 1, 1996
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeB Knebelmann, C Breillat, L Forestier, et al.
Nephrologie|January 1, 1997
[Nephronophtisis in Senegal: first 3 cases]B Diouf, A Niang, M M Ka, et al.
Journal Francais D'Ophtalmologie|November 23, 2006
[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]D Sellami, K Makni, H Chaker, et al.
Cytogenetics and Cell Genetics|January 1, 1997
Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical regionL Heidet, L Cohen-Solal, E Boye, et al.
Nature Genetics|April 16, 1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosisM Town, G Jean, S Cherqui, et al.
Endocrinology|March 27, 2015
A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processingH P Gaide Chevronnay, V Janssens, P Van Der Smissen, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1997
Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridizationL Heidet, Y Cai, Y Sado, et al.
Pageof 11

Showing results (81-90 of 103) with videos related to

Sort By:
Pageof 11
Pediatric Nephrology (Berlin, Germany)|January 23, 1998
Chronic renal failure and cranioectodermal dysplasia: a further stepM Tsimaratos, E Bérard, S Sigaudy, et al.
Nature Genetics|September 1, 1994
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndromeT Mochizuki, H H Lemmink, M Mariyama, et al.
Organogenesis|June 13, 2009
The European renal genome project: an integrated approach towards understanding the genetics of kidney development and diseaseTe Willnow, C Antignac, Aw Brändli, et al.
American Journal of Human Genetics|December 1, 1996
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeB Knebelmann, C Breillat, L Forestier, et al.
Nephrologie|January 1, 1997
[Nephronophtisis in Senegal: first 3 cases]B Diouf, A Niang, M M Ka, et al.
Journal Francais D'Ophtalmologie|November 23, 2006
[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]D Sellami, K Makni, H Chaker, et al.
Cytogenetics and Cell Genetics|January 1, 1997
Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical regionL Heidet, L Cohen-Solal, E Boye, et al.
Nature Genetics|April 16, 1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosisM Town, G Jean, S Cherqui, et al.
Endocrinology|March 27, 2015
A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processingH P Gaide Chevronnay, V Janssens, P Van Der Smissen, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1997
Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridizationL Heidet, Y Cai, Y Sado, et al.
Pageof 11