COMBI, ROMINA
COMBI, ROMINA
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families
2002 Bonati, M; Combi, R; Asselta, R; Duga, S; Malcovati, M; Oldani, A; Zucconi, M; Ferini Strambi, L; Dalpra', L; Tenchini, M
Evidence of the existence of at least a fourth locus for ADNFLE
2002 Combi, R; Duga, S; Asselta, R; Boi, S; Oldani, A; Zucconi, M; Ferini-Strambi, L; Malcovati, M; Dalpra, L; Tenchini, M
Autosomal dominant nocturnal frontal lobe epilepsy - A critical overview
2004 Combi, R; Dalpra', L; Tenchini, M; Ferini Strambi, L
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy
2004 Combi, R; Dalpra', L; Malcovati, M; Oldani, A; Tenchini, M; Ferini Strambi, L
Two new putative loci for ADNFLE identified in an Italian family suggest a digenic inheritance for the disease
2005 Combi, R; Dalpra', L; Ferini Strambi, L; Tenchini, M
Two new susceptibility loci for ADNFLE
2005 Combi, R; Ferini Strambi, L; Montruccoli, A; Bianchi, V; Malcovati, M; Zucconi, M; Dalpra', L; Tenchini, M
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene
2005 Combi, R; Dalpra', L; Ferini Strambi, L; Tenchini, M
Maternal polymorphisms for methyltetrahydrofolate reductase (MTHFR) and methioninesynthetasi-reductase (MTRR) and risk of children with down syndrome: A geographic effect?
2006 Pozzi, E; Vergani, P; Dalpra', L; Combi, R; Crosti, F; Dell'Orto, M; Gozzi, M
Clinical and genetic familial study of 61 children showing different epileptic phenotypes.
2007 Combi, R; Redaelli, S; Grioni, D; Contri, M; Barisani, D; Lavitrano, M; Tredici, G; Tenchini, M; Bertolini, M; Dalpra', L
Gene Symbol: SCN1A
2007 Combi, R; Grioni, D; Tenchini, M; Bertolini, M; Tredici, G; Dalpra', L
Corticotropin releasing hormone in frontal lobe epilepsy
2007 Combi, R
Clinical and genetic evaluation of a family showing both autism and epilepsy
2008 Combi, R; Redaelli, S; Provenzi, M; Cornaggia, C; Dalpra', L
Compound heterozygosity with dominance in the CRH (Corticotropin Releasing Hormone)promoter in a case of nocturnal frontal lobe epilepsy
2008 Combi, R; Ferini Strambi, L; Tenchini, M
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russel syndrome
2008 Combi, R; Sala, E; Villa, N; Crosti, F; Beccaria, L; Cogliardi, A; Tenchini, M; Dalpra', L
Distinct pools of cancer stem-like cells coexist within human glioblastomas and display different tumorigenicity and independent genomic evolution
2009 Piccirillo, S; Combi, R; Cajola, L; Patrizi, A; Redaelli, S; Bentivegna, A; Baronchelli, S; Maira, G; Pollo, B; Mangiola, A; Dimeco, F; Dalpra', L; Vescovi, A
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy
2009 Combi, R; Grioni, D; Contri, M; Redaelli, S; Redaelli, F; Bassi, M; Barisani, D; Lavitrano, M; Tredici, G; Tenchini, M; Bertolini, M; Dalpra', L
CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients
2009 Combi, R; Ferini Strambi, L; Tenchini, M
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome
2009 Pozzi, E; Vergani, P; Dalpra', L; Combi, R; Silvestri, D; Crosti, F; Dell’Orto, M; Valsecchi, M
A rescuable folding defective Nav1.1 (SCN1A) Na+channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?
2009 Rusconi, R; Combi, R; Cestèle, S; Grioni, D; Franceschetti, S; Dalpra', L; Mantegazza, M
Study of the genetic basis of autosomal dominant nocturnal frontal lobe epilepsy
2010 Sansoni, V; Bouchardy, I; Picard, F; Combi, R