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Maja Di Rocco
Maja Di Rocco
MD, Giannina Gaslini INstitute, Genoa, Italy
E-mail confirmado em ospedale-gaslini.ge.it
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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
5522015
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
3612004
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
3432009
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
2802015
Guidelines for management of glycogen storage disease type I–European Study on Glycogen Storage Disease Type I (ESGSD I)
J Rake, G Visser, P Labrune, JV Leonard, K Ullrich, PG Smit
European journal of pediatrics 161, S112-S119, 2002
2572002
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
2202006
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
1992000
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
1932010
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
A Caciotti, SC Garman, Y Rivera-Colón, E Procopio, S Catarzi, L Ferri, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 2011
1682011
Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-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
1682004
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
1562012
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
1512001
Clinical and molecular genetic features of ARC syndrome
P Gissen, L Tee, CA Johnson, E Genin, A Caliebe, D Chitayat, ...
Human genetics 120, 396-409, 2006
1442006
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, 447-458, 2013
1432013
Clinical features of lysosomal acid lipase deficiency
BK Burton, PB Deegan, GM Enns, O Guardamagna, S Horslen, ...
Journal of pediatric gastroenterology and nutrition 61 (6), 619-625, 2015
1422015
The medical management of fibrodysplasia ossificans progressiva: current treatment considerations
FS Kaplan, M Al Mukaddam, G Baujat, M Brown, A Cali, TJ Cho, C Crowe, ...
Proc Intl Clin Council FOP 1, 1-111, 2019
1342019
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
1342006
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
B Tappino, R Biancheri, M Mort, S Regis, F Corsolini, A Rossi, ...
Human mutation 31 (12), E1894-E1914, 2010
1282010
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
V Carmignac, J Thevenon, L Adès, B Callewaert, S Julia, ...
The American Journal of Human Genetics 91 (5), 950-957, 2012
1272012
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
1202010
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