COMBI, ROMINA

COMBI, ROMINA  

DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)  

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Risultati 1 - 20 di 52 (tempo di esecuzione: 0.012 secondi).
Titolo Tipologia Data di pubblicazione Autori File
Evidence of the existence of at least a fourth locus for ADNFLE 01 - Articolo su rivista 2002 Combi, R +
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 01 - Articolo su rivista 2002 COMBI, ROMINADALPRA', LEDA +
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy 01 - Articolo su rivista 2004 COMBI, ROMINADALPRA', LEDA +
Autosomal dominant nocturnal frontal lobe epilepsy - A critical overview 01 - Articolo su rivista 2004 COMBI, ROMINADALPRA', LEDA +
Two new putative loci for ADNFLE identified in an Italian family suggest a digenic inheritance for the disease 01 - Articolo su rivista 2005 COMBI, ROMINADALPRA', LEDA +
Two new susceptibility loci for ADNFLE 01 - Articolo su rivista 2005 COMBI, ROMINADALPRA', LEDA +
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene 01 - Articolo su rivista 2005 COMBI, ROMINADALPRA', LEDA +
Maternal polymorphisms for methyltetrahydrofolate reductase (MTHFR) and methioninesynthetasi-reductase (MTRR) and risk of children with down syndrome: A geographic effect? 01 - Articolo su rivista 2006 VERGANI, PATRIZIADALPRA', LEDACOMBI, ROMINAGOZZI, MARTA +
Clinical and genetic familial study of 61 children showing different epileptic phenotypes. 01 - Articolo su rivista 2007 COMBI, ROMINAREDAELLI, SERENACONTRI, MARGHERITABARISANI, DONATELLALAVITRANO, MARIALUISATREDICI, GIOVANNIBERTOLINI, MARIODALPRA', LEDA +
Gene Symbol: SCN1A 01 - Articolo su rivista 2007 COMBI, ROMINABERTOLINI, MARIOTREDICI, GIOVANNIDALPRA', LEDA +
Corticotropin releasing hormone in frontal lobe epilepsy 02 - Intervento a convegno 2007 COMBI, ROMINA
Clinical and genetic evaluation of a family showing both autism and epilepsy 02 - Intervento a convegno 2008 COMBI, ROMINAREDAELLI, SERENACORNAGGIA, CESARE MARIADALPRA', LEDA +
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russel syndrome 01 - Articolo su rivista 2008 COMBI, ROMINADALPRA', LEDA +
Compound heterozygosity with dominance in the CRH (Corticotropin Releasing Hormone)promoter in a case of nocturnal frontal lobe epilepsy 01 - Articolo su rivista 2008 COMBI, ROMINA +
Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome 01 - Articolo su rivista 2009 VERGANI, PATRIZIADALPRA', LEDACOMBI, ROMINAVALSECCHI, MARIA GRAZIA +
CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients 01 - Articolo su rivista 2009 COMBI, ROMINA +
Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy 01 - Articolo su rivista 2009 COMBI, ROMINAREDAELLI, SERENABARISANI, DONATELLALAVITRANO, MARIALUISATREDICI, GIOVANNIBERTOLINI, MARIODALPRA', LEDA +
Distinct pools of cancer stem-like cells coexist within human glioblastomas and display different tumorigenicity and independent genomic evolution 01 - Articolo su rivista 2009 COMBI, ROMINAREDAELLI, SERENABENTIVEGNA, ANGELADALPRA', LEDAVESCOVI, ANGELO LUIGI +
A rescuable folding defective Nav1.1 (SCN1A) Na+channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies? 01 - Articolo su rivista 2009 COMBI, ROMINADALPRA', LEDA +
Study of the genetic basis of autosomal dominant nocturnal frontal lobe epilepsy 02 - Intervento a convegno 2010 SANSONI, VERONICACOMBI, ROMINA +