Maurizio Ferrari
Maurizio Ferrari
Verified email at hsr.it
TitleCited byYear
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
RA Ophoff, GM Terwindt, MN Vergouwe, R Van Eijk, PJ Oefner, ...
Cell 87 (3), 543-552, 1996
24291996
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
G Simoni, B Brambati, C Danesino, F Rossella, GL Terzoli, M Ferrari, ...
Human Genetics 63 (4), 349-357, 1983
6221983
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ...
Nature genetics 7 (2), 169, 1994
3691994
Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders
D Pietra, S Li, A Brisci, F Passamonti, E Rumi, A Theocharides, M Ferrari, ...
Blood 111 (3), 1686-1689, 2008
2992008
Identification of protein tyrosine phosphatase-like IA2 (islet cell antigen 512) as the insulin-dependent diabetes-related 37/40K autoantigen and a target of islet-cell antibodies.
E Bonifacio, V Lampasona, S Genovese, M Ferrari, E Bosi
The Journal of Immunology 155 (11), 5419-5426, 1995
2891995
The Δccr5 Mutation Conferring Protection Against HIV-1 in Caucasian Populations Has a Single and Recent Origin in Northeastern Europe
F Libert, P Cochaux, G Beckman, M Samson, M Aksenova, A Cao, ...
Human molecular genetics 7 (3), 399-406, 1998
2841998
Loss of mismatched HLA in leukemia after stem-cell transplantation
L Vago, SK Perna, M Zanussi, B Mazzi, C Barlassina, MTL Stanghellini, ...
New England Journal of Medicine 361 (5), 478-488, 2009
2752009
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
S Battistini, S Stenirri, M Piatti, C Gelfi, PG Righetti, R Rocchi, F Giannini, ...
Neurology 53 (1), 38-38, 1999
2021999
Analysis of risk factors for the development of liver disease associated with cystic fibrosis
C Colombo, MG Apostolo, M Ferrari, M Seia, S Genoni, A Giunta, ...
The Journal of pediatrics 124 (3), 393-399, 1994
1941994
Double-gradient DGGE for optimized detection of DNA point mutations
L Cremonesi, S Firpo, M Ferrari, PG Righetti, C Gelfi
Biotechniques 22 (2), 326-330, 1997
1391997
Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia
L Malcovati, E Papaemmanuil, I Ambaglio, C Elena, A Gallý, ...
Blood 124 (9), 1513-1521, 2014
1382014
Involvement of the HLXB9 homeobox gene in Currarino syndrome
E Belloni, G Martucciello, D Verderio, E Ponti, M Seri, V Jasonni, M Torre, ...
The American Journal of Human Genetics 66 (1), 312-319, 2000
1312000
Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
M Cazzola, L Cremonesi, M Papaioannou, N Soriani, A Kioumi, ...
British journal of haematology 119 (2), 539-546, 2002
1242002
Phenotypic clustering of lamin A/C mutations in neuromuscular patients
S Benedetti, I Menditto, M Degano, C Rodolico, L Merlini, A D’amico, ...
Neurology 69 (12), 1285-1292, 2007
1222007
Autoantibodies in insulin-dependent diabetes recognize distinct cytoplasmic domains of the protein tyrosine phosphatase-like IA-2 autoantigen.
V Lampasona, M Bearzatto, S Genovese, E Bosi, M Ferrari, E Bonifacio
The Journal of Immunology 157 (6), 2707-2711, 1996
1151996
Fetal DNA detection in maternal plasma throughout gestation
S Galbiati, M Smid, D Gambini, A Ferrari, G Restagno, E Viora, ...
Human genetics 117 (2-3), 243-248, 2005
1102005
Genetic heterogeneity in Italian families with familial hemiplegic migraine
P Carrera, M Piatti, S Stenirri, LME Grimaldi, E Marchioni, M Curcio, ...
Neurology 53 (1), 26-26, 1999
1041999
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study
AJ van Essen, S Abbs, M Baiget, E Bakker, C Boileau, ...
Human genetics 88 (3), 249-257, 1992
1021992
No evidence of fetal DNA persistence in maternal plasma after pregnancy
M Smid, S Galbiati, A Vassallo, D Gambini, A Ferrari, E Viora, M Pagliano, ...
Human genetics 112 (5-6), 617-618, 2003
982003
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study
X Estivill, M Farrall, R Williamson, M Ferrari, M Seia, AM Giunta, G Novelli, ...
American journal of human genetics 43 (1), 23, 1988
921988
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