Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

Por Forestier, L, Jean, G, Attard, M, Cherqui, S, Lewis, C, van't Hoff, W, Broyer, M, Town, M, Antignac, C
Publicado em 1999

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Por Sharp, A, Messiaen, L, Page, G, Antignac, C, Gubler, M, Onuchic, L, Somlo, S, Germino, G, Guay-Woodford, L
Publicado em 2005

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

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

Por Jean, G., Fuchshuber, A., Town, M. M., Gribouval, O., Schneider, J. A., Broyer, M., van't Hoff, W., Niaudet, P., Antignac, C.
Publicado em 1996

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.

Por Heidet, L., Boye, E., Cai, Y., Sado, Y., Zhang, X., Fléjou, J. F., Fékété, F., Ninomiya, Y., Gubler, M. C., Antignac, C.
Publicado em 1998

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

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Por Boye, E, Mollet, G, Forestier, L, Cohen-Solal, L, Heidet, L, Cochat, P, Grünfeld, J P, Palcoux, J B, Gubler, M C, Antignac, C
Publicado em 1998

Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases

Por Saunier, S, Gaudé, HM, Montjean, R, Silbermann, F, Grampa, V, Burcklé, C, Montenont, E, Delous, M, Vesque, C, Jeanpierre, C, Antignac, C, Terzi, F, Schneider-Maunoury, S
Publicado em 2012

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

The European Renal Genome Project: An Integrated Approach Towards Understanding the Genetics of Kidney Development and Disease

Por Willnow, TE, Antignac, C, Brändli, AW, Christensen, EI, Cox, RD, Davidson, D, Davies, JA, Devuyst, O, Eichele, G, Hastie, ND, Verroust, PJ, Schedl, A, Meij, IC
Publicado em 2005

A Mouse Model Suggests Two Mechanisms for Thyroid Alterations in Infantile Cystinosis: Decreased Thyroglobulin Synthesis Due to Endoplasmic Reticulum Stress/Unfolded Protein Respon...

Por Gaide Chevronnay, H. P., Janssens, V., Van Der Smissen, P., Liao, X. H., Abid, Y., Nevo, N., Antignac, C., Refetoff, S., Cherqui, S., Pierreux, C. E., Courtoy, P. J.
Publicado no Endocrinology (2015)

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

Por Lenkkeri, U, Männikkö, M, McCready, P, Lamerdin, J, Gribouval, O, Niaudet, P M, Antignac C, K, Kashtan, C E, Homberg, C, Olsen, A, Kestilä, M, Tryggvason, K
Publicado em 1999

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis

Por Saunier, S, Bizet, AA, Silbermann, F, Filhol, E, Blisnick, T, Henneveu, A, Montenont, E, Perrault, I, Boyle-Feysot, C, Rozet, J-M, Bastin, P, Arts, HH, Antignac, C, Benmerah, AR
Publicado em 2012

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Por Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S
Publicado no Cilia (2015)

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Por Perrault, I, Saunier, S, Hanein, S, Filhol, E, Bizet, A, Collins, F, Salih, M, Silva, E, Baudouin, V, Oud, M, Shannon, N, Le Merrer, M, Pietrement, C, Beales, P, Arts, H, Munnich, A, Kaplan, J, Antignac, C, Cormier Daire, V, Rozet, JM
Publicado em 2012

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Por Vargas-Poussou, R, Feldmann, D, Vollmer, M, Konrad, M, Kelly, L, van den Heuvel, L P, Tebourbi, L, Brandis, M, Karolyi, L, Hebert, S C, Lemmink, H H, Deschênes, G, Hildebrandt, F, Seyberth, H W, Guay-Woodford, L M, Knoers, N V, Antignac, C
Publicado em 1998

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

Por Becker-Heck, A, Bizet, A, Ryan, R, Krug, P, Filhol, E, Linghu, B, Oakeley, E, Serluca, F, Legendre, F, Dörner, N, Lasbennes, MC, Duca, J, Yang, F, Damask, A, Klickstein, L, Labow, M, Schebesta, M, Bouwmeester, T, Valette, H, Pinson, L, Goubaux, B, Dubot, P, Salomon, R, Antignac, C, Gubler, M, Jeanpierre, C, Chibout, S, Bole-Feysot, C, Nitschké, P, Benmerah, A, Szustakowski, JD, Sailer, AW, Saunier, S, Saint-Mezard, P
Publicado no Cilia (2015)