Massimo Attanasio
Massimo Attanasio
University of Iowa Carer College of Medicine
Dirección de correo verificada de uiowa.edu - Página principal
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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ...
Nature genetics 38 (6), 674-681, 2006
6222006
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ...
Nature genetics 38 (12), 1397-1405, 2006
5652006
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ...
Nature genetics 37 (3), 282-288, 2005
3832005
Nephronophthisis: disease mechanisms of a ciliopathy
F Hildebrandt, M Attanasio, E Otto
Journal of the American Society of Nephrology 20 (1), 23-35, 2009
3572009
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ...
Human molecular genetics 15 (11), 1847-1857, 2006
3522006
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ...
Cell 150 (3), 533-548, 2012
3002012
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ...
Nature genetics 39 (8), 1018-1024, 2007
2072007
A systematic approach to mapping recessive disease genes in individuals from outbred populations
F Hildebrandt, SF Heeringa, F Rüschendorf, M Attanasio, G Nürnberg, ...
PLoS Genet 5 (1), e1000353, 2009
1632009
Evidence of oligogenic inheritance in nephronophthisis
J Hoefele, MTF Wolf, JF O’Toole, EA Otto, U Schultheiss, G Dêschenes, ...
Journal of the American Society of Nephrology 18 (10), 2789-2795, 2007
1432007
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
EA Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, EL Wise, ...
Journal of medical genetics 46 (10), 663-670, 2009
1252009
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN
F Ozaltin, B Li, A Rauhauser, SW An, O Soylemezoglu, II Gonul, ...
Journal of the American Society of Nephrology 24 (3), 377-384, 2013
1142013
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
J Helou, EA Otto, M Attanasio, SJ Allen, MA Parisi, I Glass, B Utsch, ...
Journal of medical genetics 44 (10), 657-663, 2007
1042007
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ...
The Journal of clinical investigation 120 (3), 791-802, 2010
1012010
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
EA Otto, J Helou, SJ Allen, JF O'Toole, EL Wise, S Ashraf, M Attanasio, ...
Human mutation 29 (3), 418-426, 2008
972008
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis
MTF Wolf, S Saunier, JF O'Toole, N Wanner, T Groshong, M Attanasio, ...
Kidney international 72 (12), 1520-1526, 2007
942007
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
B Utsch, JA Sayer, M Attanasio, RR Pereira, M Eccles, HC Hennies, ...
Pediatric Nephrology 21 (1), 32-35, 2006
892006
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
B Utsch, JA Sayer, M Attanasio, RR Pereira, M Eccles, HC Hennies, ...
Pediatric Nephrology 21 (1), 32-35, 2006
892006
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
MTF Wolf, BE Mucha, M Attanasio, I Zalewski, SM Karle, HPH Neumann, ...
Kidney international 64 (5), 1580-1587, 2003
882003
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
J Hoefele, R Sudbrak, R Reinhardt, S Lehrack, S Hennig, A Imm, U Muerb, ...
Human mutation 25 (4), 411-411, 2005
632005
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis
J Hoefele, R Sudbrak, R Reinhardt, S Lehrack, S Hennig, A Imm, U Muerb, ...
Human mutation 25 (4), 411-411, 2005
632005
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