Marco Seri
Marco Seri
Professore di Genetica Medica, UniversitÓ di Bologna
Verified email at unibo.it
TitleCited byYear
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
G Romeo, P Ronchetto, Y Luo, V Barone, M Seri, I Ceccherini, B Pasini, ...
Nature 367 (6461), 377-378, 1994
7731994
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
AJ Coffey, RA Brooksbank, O Brandau, T Oohashi, GR Howell, JM Bye, ...
Nature genetics 20 (2), 129, 1998
7461998
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, CN Lo, GM Ghiggeri, ...
Nature genetics 26 (1), 103-105, 2000
3402000
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a singleá…
M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ...
Medicine 82 (3), 203-215, 2003
3122003
RET mutations in exons 13 and 14 of FMTC patients.
A Bolino, I Schuffenecker, Y Luo, M Seri, M Silengo, T Tocco, G Chabrier, ...
Oncogene 10 (12), 2415-2419, 1995
2771995
Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
J Sumegi, D Huang, A Lanyi, JD Davis, TA Seemayer, A Maeda, G Klein, ...
Blood 96 (9), 3118-3125, 2000
2512000
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis
G Caridi, R Bertelli, A Carrea, M Di Duca, P Catarsi, M Artero, M Carraro, ...
Journal of the American Society of Nephrology 12 (12), 2742-2746, 2001
2172001
Loss of function effect of RET mutations causing Hirschsprung disease
B Pasini, MG Borrello, A Greco, I Bongarzone, Y Luo, P Mondellini, ...
Nature genetics 10 (1), 35, 1995
2091995
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
I Ceccherini, RM Hofstra, Y Luo, RP Stulp, V Barone, T Stelwagen, ...
Oncogene 9 (10), 3025-3029, 1994
1931994
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
P Noris, S Perrotta, M Seri, A Pecci, C Gnan, G Loffredo, N Pujol-Moix, ...
Blood 117 (24), 6673-6680, 2011
1842011
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
HS Scott, M Heino, P Peterson, L Mittaz, MD Lalioti, C Betterle, A Cohen, ...
Molecular Endocrinology 12 (8), 1112-1119, 1998
1791998
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease
A Pecci, E Panza, N Pujol‐Moix, C Klersy, F Di Bari, V Bozzi, P Gresele, ...
Human mutation 29 (3), 409-417, 2008
1742008
MEFV mutations in Behšet's disease
I Touitou, X Magne, N Molinari, A Navarro, AL Quellec, P Picco, M Seri, ...
Human mutation 16 (3), 271-272, 2000
1662000
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
A Magi, L Tattini, I Cifola, R D’Aurizio, M Benelli, E Mangano, C Battaglia, ...
Genome biology 14 (10), R120, 2013
1622013
Frequency of RET mutations in long‐and short‐segment Hirschsprung disease
M Seri, L Yin, V Barone, A Bolino, I Celli, R Bocciardi, B Pasini, ...
Human mutation 9 (3), 243-249, 1997
1381997
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
T Pippucci, A Savoia, S Perrotta, N Pujol-Moix, P Noris, G Castegnaro, ...
The American Journal of Human Genetics 88 (1), 115-120, 2011
1312011
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
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11. 22–q11. 2
C Cagnoli, C Mariotti, F Taroni, M Seri, A Brussino, C Michielotto, ...
Brain 129 (1), 235-242, 2005
1292005
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene
C Pescucci, F Mari, I Longo, P Vogiatzi, R Caselli, E Scala, C Abaterusso, ...
Kidney international 65 (5), 1598-1603, 2004
1292004
MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations
A Pecci, C Klersy, P Gresele, KJD Lee, D De Rocco, V Bozzi, G Russo, ...
Human mutation 35 (2), 236-247, 2014
1152014
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