Gubler MC - Search Results

1

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.

Arrondel C, Deschênes G, Le Meur Y, Viau A, Cordonnier C, Fournier A, Amadeo S, Gubler MC, Antignac C, Heidet L. Arrondel C, et al. Among authors: gubler mc. Kidney Int. 2004 Jun;65(6):2030-40. doi: 10.1111/j.1523-1755.2004.00622.x. Kidney Int. 2004. PMID: 15149316 Free article.

2

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: gubler mc. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524

3

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C. Heidet L, et al. Among authors: gubler mc. J Am Soc Nephrol. 2001 Jan;12(1):97-106. doi: 10.1681/ASN.V12197. J Am Soc Nephrol. 2001. PMID: 11134255

4

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Arrondel C, Vodovar N, Knebelmann B, Grünfeld JP, Gubler MC, Antignac C, Heidet L. Arrondel C, et al. Among authors: gubler mc. J Am Soc Nephrol. 2002 Jan;13(1):65-74. doi: 10.1681/ASN.V13165. J Am Soc Nephrol. 2002. PMID: 11752022

5

Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.

Mothes H, Heidet L, Arrondel C, Richter KK, Thiele M, Patzer L, Sado Y, Gubler MC, Antignac C, Scheele J. Mothes H, et al. Among authors: gubler mc. Nephrol Dial Transplant. 2002 Jan;17(1):70-4. doi: 10.1093/ndt/17.1.70. Nephrol Dial Transplant. 2002. PMID: 11773466

6

Podocin localizes in the kidney to the slit diaphragm area.

Roselli S, Gribouval O, Boute N, Sich M, Benessy F, Attié T, Gubler MC, Antignac C. Roselli S, et al. Among authors: gubler mc. Am J Pathol. 2002 Jan;160(1):131-9. doi: 10.1016/S0002-9440(10)64357-X. Am J Pathol. 2002. PMID: 11786407 Free PMC article.

7

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.

Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler MC, Antignac C. Cherqui S, et al. Among authors: gubler mc. Mol Cell Biol. 2002 Nov;22(21):7622-32. doi: 10.1128/MCB.22.21.7622-7632.2002. Mol Cell Biol. 2002. PMID: 12370309 Free PMC article.

8

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.

Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC. Heidet L, et al. Among authors: gubler mc. Am J Pathol. 2003 Jul;163(1):145-55. doi: 10.1016/S0002-9440(10)63638-3. Am J Pathol. 2003. PMID: 12819019 Free PMC article.

9

A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

Heidet L, Borza DB, Jouin M, Sich M, Mattei MG, Sado Y, Hudson BG, Hastie N, Antignac C, Gubler MC. Heidet L, et al. Among authors: gubler mc. Am J Pathol. 2003 Oct;163(4):1633-44. doi: 10.1016/s0002-9440(10)63520-1. Am J Pathol. 2003. PMID: 14507670 Free PMC article.

10

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: gubler mc. J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74. J Am Soc Nephrol. 2003. PMID: 14514738

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