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Grazia Mancini
Grazia Mancini
ErasmusMC Rotterdam, Clinical Genetics
Verified email at erasmusmc.nl
Title
Cited by
Cited by
Year
New loci associated with kidney function and chronic kidney disease
A Köttgen, C Pattaro, CA Böger, C Fuchsberger, M Olden, NL Glazer, ...
Nature genetics 42 (5), 376-384, 2010
8772010
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ...
Nature genetics 44 (8), 934-940, 2012
7062012
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
5062017
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
C Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ...
Nature genetics 39 (8), 960-962, 2007
4532007
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
PJ Coucke, A Willaert, MW Wessels, B Callewaert, N Zoppi, J De Backer, ...
Nature genetics 38 (4), 452-457, 2006
4302006
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ...
Brain 133 (3), 655-670, 2010
4232010
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ...
Human mutation 30 (4), 695-702, 2009
3382009
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
FW Verheijen, E Verbeek, N Aula, CEMT Beerens, AC Havelaar, ...
Nature genetics 23 (4), 462-465, 1999
3101999
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440-444, 2012
3062012
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ...
Brain 133 (10), 2971-2982, 2010
2882010
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
MEC Meuwissen, R Schot, S Buta, G Oudesluijs, S Tinschert, SD Speer, ...
Journal of Experimental Medicine 213 (7), 1163-1174, 2016
2712016
The metabolic syndrome, cardiopulmonary fitness, and subcutaneous trunk fat as independent determinants of arterial stiffness: the Amsterdam Growth and Health Longitudinal Study
I Ferreira, RMA Henry, JWR Twisk, W van Mechelen, HCG Kemper, ...
Archives of internal medicine 165 (8), 875-882, 2005
2662005
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
MEC Meuwissen, DJJ Halley, LS Smit, MH Lequin, JM Cobben, R De Coo, ...
Genetics in Medicine 17 (11), 843-853, 2015
2512015
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome
DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ...
Journal of medical genetics 45 (11), 710-720, 2008
2502008
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia
NC Hoch, H Hanzlikova, SL Rulten, M Tétreault, E Komulainen, L Ju, ...
Nature 541 (7635), 87-91, 2017
2422017
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
S Hanks, S Adams, J Douglas, L Arbour, DJ Atherton, S Balci, H Bode, ...
The American Journal of Human Genetics 73 (4), 791-800, 2003
2412003
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
2242012
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
2232013
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke
M Jeanne, C Labelle-Dumais, J Jorgensen, WB Kauffman, GM Mancini, ...
The American Journal of Human Genetics 90 (1), 91-101, 2012
2182012
The effect of perindopril on cardiovascular morbidity and mortality in patients with diabetes in the EUROPA study: results from the PERSUADE substudy
CA Daly, KM Fox, WJ Remme, ME Bertrand, R Ferrari, ML Simoons
European Heart Journal 26 (14), 1369-1378, 2005
2182005
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