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346 results

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Page 1
Linkage studies in X-linked Alport's syndrome.
Szpiro-Tapia S, Bobrie G, Guilloud-Bataille M, Heuertz S, Julier C, Frézal J, Grünfeld JP, Hors-Cayla MC. Szpiro-Tapia S, et al. Among authors: grunfeld jp. Hum Genet. 1988 Dec;81(1):85-7. doi: 10.1007/BF00283736. Hum Genet. 1988. PMID: 2904407
Alport syndrome: a genetic study of 31 families.
M'Rad R, Sanak M, Deschenes G, Zhou J, Bonaiti-Pellie C, Holvoet-Vermaut L, Heuertz S, Gubler MC, Broyer M, Grunfeld JP, et al. M'Rad R, et al. Among authors: grunfeld jp. Hum Genet. 1992 Dec;90(4):420-6. doi: 10.1007/BF00220471. Hum Genet. 1992. PMID: 1483700
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, et al. Antignac C, et al. Among authors: grunfeld jp. J Clin Invest. 1994 Mar;93(3):1195-207. doi: 10.1172/JCI117073. J Clin Invest. 1994. PMID: 8132760 Free PMC article.
Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.
Gubler MC, Antignac C, Deschênes G, Knebelmann B, Hors-Cayla MC, Grünfeld JP, Broyer M, Habib R. Gubler MC, et al. Among authors: grunfeld jp. Adv Nephrol Necker Hosp. 1993;22:15-35. Adv Nephrol Necker Hosp. 1993. PMID: 8427057 Review. No abstract available.
Kidney transplantation in Alport's syndrome and related diseases.
Bobrie G, Noël LH, Savage CO, Pochet JM, Pirson Y, Goldman M, Dechelette E, Moulonguet-Doleris L, Lockwood CM, Grünfeld JP. Bobrie G, et al. Among authors: grunfeld jp. Contrib Nephrol. 1990;80:76-80. doi: 10.1159/000418630. Contrib Nephrol. 1990. PMID: 2282824 No abstract available.
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C. Knebelmann B, et al. Among authors: grunfeld jp. Am J Hum Genet. 1996 Dec;59(6):1221-32. Am J Hum Genet. 1996. PMID: 8940267 Free PMC article.
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 fragments.
Knebelmann B, Deschenes G, Gros F, Hors MC, Grünfeld JP, Zhou J, Tryggvason K, Gubler MC, Antignac C. Knebelmann B, et al. Among authors: grunfeld jp. Am J Hum Genet. 1992 Jul;51(1):135-42. Am J Hum Genet. 1992. PMID: 1376965 Free PMC article.
Inherited defects of renal basement membranes.
Noël LH, Gubler MC, Bobrie G, Savage CO, Lockwood CM, Grünfeld JP. Noël LH, et al. Among authors: grunfeld jp. Adv Nephrol Necker Hosp. 1989;18:77-94. Adv Nephrol Necker Hosp. 1989. PMID: 2493725 Review.
The natural history of inherited renal diseases.
Pochet JM, Albouze G, Bobrie G, Landais P, Ferran C, Grünfeld JP. Pochet JM, et al. Among authors: grunfeld jp. Contrib Nephrol. 1989;75:100-7. doi: 10.1159/000417735. Contrib Nephrol. 1989. PMID: 2697494 Review. No abstract available.
346 results