Gubler MC - Search Results

1

PAX2 mutations in fetal renal hypodysplasia.

Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC. Martinovic-Bouriel J, et al. Among authors: gubler mc. Am J Med Genet A. 2010 Apr;152A(4):830-5. doi: 10.1002/ajmg.a.33133. Am J Med Genet A. 2010. PMID: 20358591

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

Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.

Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic LF, Attié-Bitach T, Guicharnaud L, Devuyst O, Germino GG, Gubler MC. Chauvet V, et al. Among authors: gubler mc. Am J Pathol. 2002 Mar;160(3):973-83. doi: 10.1016/S0002-9440(10)64919-X. Am J Pathol. 2002. PMID: 11891195 Free PMC article.

8

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.

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

Early glomerular filtration defect and severe renal disease in podocin-deficient mice.

Roselli S, Heidet L, Sich M, Henger A, Kretzler M, Gubler MC, Antignac C. Roselli S, et al. Among authors: gubler mc. Mol Cell Biol. 2004 Jan;24(2):550-60. doi: 10.1128/MCB.24.2.550-560.2004. Mol Cell Biol. 2004. PMID: 14701729 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

290 results

Search Page