Maja Di Rocco
Maja Di Rocco
MD, Giannina Gaslini INstitute, Genoa, Italy
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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
P Gissen, CA Johnson, NV Morgan, JM Stapelbroek, T Forshew, ...
Nature genetics 36 (4), 400-404, 2004
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
DE Neilson, MD Adams, CMD Orr, DK Schelling, RM Eiben, DS Kerr, ...
The American Journal of Human Genetics 84 (1), 44-51, 2009
A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency
BK Burton, M Balwani, F Feillet, I Barić, TA Burrow, C Camarena Grande, ...
New England Journal of Medicine 373 (11), 1010-1020, 2015
Genotype–phenotype correlations and clinical diagnostic criteria in Wolf‐Hirschhorn syndrome
M Zollino, C Di Stefano, G Zampino, P Mastroiacovo, TJ Wright, G Sorge, ...
American journal of medical genetics 94 (3), 254-261, 2000
Agenesis of the corpus callosum: clinical and genetic study in 63 young patients
MF Bedeschi, MC Bonaglia, R Grasso, A Pellegri, RR Garghentino, ...
Pediatric neurology 34 (3), 186-193, 2006
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
E Rossi, F Piccini, M Zollino, G Neri, D Caselli, R Tenconi, C Castellan, ...
Journal of medical genetics 38 (6), 417-420, 2001
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
AR Cullinane, A Straatman-Iwanowska, A Zaucker, Y Wakabayashi, ...
Nature genetics 42 (4), 303-312, 2010
Null leukemia inhibitory factor receptor (LIFR) mutations in Stve-Wiedemann/Schwartz-Jampel type 2 syndrome
N Dagoneau, D Scheffer, C Huber, LI Al-Gazali, M Di Rocco, A Godard, ...
The American Journal of Human Genetics 74 (2), 298-305, 2004
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
C Le Goff, C Mahaut, A Abhyankar, W Le Goff, V Serre, A Afenjar, ...
Nature genetics 44 (1), 85-88, 2012
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
A Caciotti, SC Garman, Y Rivera-Coln, E Procopio, S Catarzi, L Ferri, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 2011
Clinical and molecular genetic features of ARC syndrome
P Gissen, L Tee, CA Johnson, E Genin, A Caliebe, D Chitayat, ...
Human genetics 120 (3), 396-409, 2006
Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement
A Pangrazio, PL Poliani, A Megarbane, G Lefranc, E Lanino, M Di Rocco, ...
Journal of Bone and Mineral Research 21 (7), 1098-1105, 2006
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
S Dahl, L Poll, MD Rocco, G Ciana, C Denes, G Mariani, M Maas
Current medical research and opinion 22 (6), 1045-1064, 2006
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
SM Houten, J Koster, GJ Romeijn, J Frenkel, M Di Rocco, U Caruso, ...
European Journal of Human Genetics 9 (4), 253-259, 2001
Revised recommendations for the management of Gaucher disease in children
P Kaplan, H Baris, L De Meirleir, M Di Rocco, A El-Beshlawy, M Huemer, ...
European journal of pediatrics 172 (4), 447-458, 2013
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements
R Bocciardi, D Bordo, M Di Duca, M Di Rocco, R Ravazzolo
European Journal of Human Genetics 17 (3), 311-318, 2009
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
V Carmignac, J Thevenon, L Ads, B Callewaert, S Julia, ...
The American Journal of Human Genetics 91 (5), 950-957, 2012
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease
CEM Hollak, S vom Dahl, JMFG Aerts, N Belmatoug, B Bembi, Y Cohen, ...
Blood Cells, Molecules, and Diseases 44 (1), 41-47, 2010
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
M Di Rocco, F Giona, F Carubbi, S Linari, F Minichilli, RO Brady, ...
haematologica 93 (8), 1211-1218, 2008
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