Gubler MC - Search Results

1

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Failler M, et al. Among authors: gubler mc. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. Am J Hum Genet. 2014. PMID: 24882706 Free PMC article.

2

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

3

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

4

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.

5

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.

6

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.

7

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.

8

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.

Zhang SY, Marlier A, Gribouval O, Gilbert T, Heidet L, Antignac C, Gubler MC. Zhang SY, et al. Among authors: gubler mc. Kidney Int. 2004 Sep;66(3):945-54. doi: 10.1111/j.1523-1755.2004.00840.x. Kidney Int. 2004. PMID: 15327385 Free article.

9

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T. Karmous-Benailly H, et al. Among authors: gubler mc. Am J Hum Genet. 2005 Mar;76(3):493-504. doi: 10.1086/428679. Epub 2005 Jan 21. Am J Hum Genet. 2005. PMID: 15666242 Free PMC article.

10

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.

Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Gribouval O, et al. Among authors: gubler mc. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Nat Genet. 2005. PMID: 16116425

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