The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity.

Por Mukhopadhyay, D, Knebelmann, B, Cohen, H T, Ananth, S, Sukhatme, V P
Publicado em 1997

Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.

Por Knebelmann, B, Boussin, L, Guerrier, D, Legeai, L, Kahn, A, Josso, N, Picard, J Y
Publicado em 1991

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.

Por Sun, F, Knebelmann, B, Pueyo, M E, Zouali, H, Lesage, S, Vaxillaire, M, Passa, P, Cohen, D, Velho, G, Antignac, C
Publicado em 1993

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-a...

Por Knebelmann, B, Deschenes, G, Gros, F, Hors, M C, Grünfeld, J P, Zhou, J, Tryggvason, K, Gubler, M C, Antignac, C
Publicado em 1992

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

Por Antignac, C, Knebelmann, B, Drouot, L, Gros, F, Deschênes, G, Hors-Cayla, M C, Zhou, J, Tryggvason, K, Grünfeld, J P, Broyer, M
Publicado em 1994

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

Por Knebelmann, B., Breillat, C., Forestier, L., Arrondel, C., Jacassier, D., Giatras, I., Drouot, L., Deschênes, G., Grünfeld, J. P., Broyer, M., Gubler, M. C., Antignac, C.
Publicado em 1996

Therapeutic mTOR Inhibition in Autosomal Dominant Polycystic Kidney Disease: What Is the Appropriate Serum Level?

Por Canaud, G., Knebelmann, B., Harris, P. C., Vrtovsnik, F., Correas, J. M., Pallet, N., Heyer, C. M., Letavernier, E., Bienaimé, F., Thervet, E., Martinez, F., Terzi, F., Legendre, C.
Publicado em 2010