Attanasio M - Search Results

1

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F. Wolf MT, et al. Among authors: attanasio m. Hum Genet. 2006 Jul;119(6):649-58. doi: 10.1007/s00439-006-0176-3. Epub 2006 Apr 26. Hum Genet. 2006. PMID: 16738948

2

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage.

Wolf MT, Zalewski I, Martin FC, Ruf R, Müller D, Hennies HC, Schwarz S, Panther F, Attanasio M, Acosta HG, Imm A, Lucke B, Utsch B, Otto E, Nurnberg P, Nieto VG, Hildebrandt F. Wolf MT, et al. Among authors: attanasio m. Nephrol Dial Transplant. 2005 May;20(5):909-14. doi: 10.1093/ndt/gfh754. Epub 2005 Mar 1. Nephrol Dial Transplant. 2005. PMID: 15741201

3

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F. Hoefele J, et al. Among authors: attanasio m. Hum Mutat. 2005 Apr;25(4):411. doi: 10.1002/humu.9326. Hum Mutat. 2005. PMID: 15776426 Free article.

4

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F. Otto EA, et al. Among authors: attanasio m. Hum Mutat. 2008 Mar;29(3):418-26. doi: 10.1002/humu.20669. Hum Mutat. 2008. PMID: 18076122 Free article.

5

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F. Wolf MT, et al. Among authors: attanasio m. Kidney Int. 2007 Dec;72(12):1520-6. doi: 10.1038/sj.ki.5002630. Epub 2007 Oct 24. Kidney Int. 2007. PMID: 17960139 Free article.

6

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F. Otto EA, et al. Among authors: attanasio m. J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8. J Med Genet. 2009. PMID: 19508969

7

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F. Wolf MT, et al. Among authors: attanasio m. Kidney Int. 2003 Nov;64(5):1580-7. doi: 10.1046/j.1523-1755.2003.00269.x. Kidney Int. 2003. PMID: 14531790 Free article.

8

Medullary cystic kidney disease type 1 in a large Native-American kindred.

Kiser RL, Wolf MT, Martin JL, Zalewski I, Attanasio M, Hildebrandt F, Klemmer P. Kiser RL, et al. Among authors: attanasio m. Am J Kidney Dis. 2004 Oct;44(4):611-7. Am J Kidney Dis. 2004. PMID: 15384011

9

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Utsch B, et al. Among authors: attanasio m. Pediatr Nephrol. 2006 Jan;21(1):32-5. doi: 10.1007/s00467-005-2054-y. Epub 2005 Oct 21. Pediatr Nephrol. 2006. PMID: 16240161

10

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. Sayer JA, et al. Among authors: attanasio m. Nat Genet. 2006 Jun;38(6):674-81. doi: 10.1038/ng1786. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682973

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