COMBI, ROMINA

COMBI, ROMINA  

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

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Risultati 1 - 20 di 54 (tempo di esecuzione: 0.03 secondi).
Titolo Tipologia Data di pubblicazione Autori File
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 of the existence of at least a fourth locus for ADNFLE 01 - Articolo su rivista 2002 Combi, R +
Autosomal dominant nocturnal frontal lobe epilepsy - A critical overview 01 - Articolo su rivista 2004 COMBI, ROMINADALPRA', LEDA +
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy 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 +
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 heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russel syndrome 01 - Articolo su rivista 2008 COMBI, ROMINADALPRA', 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 +
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 +
CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients 01 - Articolo su rivista 2009 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 +
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 +