European journal of human genetics

Label

• European journal of human genetics (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Erratum: EMQN Best Practice Guidelines for molecular genetic testing of SCAs (European Journal of Human Genetics) (Articolo in rivista) (Prodotto della ricerca)
• Second family with hearing impairment linked to 19q13 and refined DFNA4 localization. (Articolo in rivista) (Prodotto della ricerca)
• Lack of association between Leber’s hereditary optic neuropathy primary point mutations and multiple sclerosis in the region of Calabria (Italy). (Abstract/Poster in rivista) (Prodotto della ricerca)
• A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• R521C mutation in the FUS gene in a large Italian family (Abstract/Poster in rivista) (Prodotto della ricerca)
• HLA and surnames as paradigms of the genetic history of Lombardy (Northern Italy). (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Clinical Utility Gene Card for: incontinentia pigmenti. (Articolo in rivista) (Prodotto della ricerca)
• Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Exclusion of trinucleotide repeat expansion in JPH3 gene causing disease in Italian patients with Huntington-like phenotype (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• The association of single nucleotide E-selectin gene polymorphism with Multiple Sclerosis’. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Alzheimer’s Disease and the Cystatin C gene polymorphism: an association study. (Abstract/Poster in rivista) (Prodotto della ricerca)
• “Mutational analysis of EFHC1 gene in Italy families with Juvenile Myoclonic Epilepsy” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Screening for DJ-1 mutations in early onset Parkinson’s disease (PD)” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Extent of linkage disequilibrium in Sardinian population (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study (Articolo in rivista) (Prodotto della ricerca)
• Prenatal testing for Huntington's disease: a European collaborative study (Articolo in rivista) (Prodotto della ricerca)
• Studies on linkage and association of asthma with the Interleukin 4-Receptor alpha chain gene (IL-4Ra) in Sardinian population (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Intercellular adhesion molecole-1 gene (ICAM-1) polymorphism: study of association with Multiple Sclerosis. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Elam-1 genotyping in Italian population with Multiple Sclerosis : molecular characterization of A561C variation. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Is M129V of the Prion protein gene ( PRNP) associated with mild temporal lobe epilepsy? (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• RNA-Seq and human complex diseases: recent accomplishments and future perspectives. (Articolo in rivista) (Prodotto della ricerca)
• Homer1 promoter analysis in Parkinson’s disease: association study with psycotic symptoms. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Parkinsonism and essential tremor in a family with pseudominant inheritance of PARK2. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Alpha-synuclein in familial Parkinson‘s disease and Lewy Body Dementia (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Communication of risk in families living with Huntington’s disease: a web survey to explore what they think, what they do. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Rehabilitation treatment in HD: benefits beyond motor and verbal improvement. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutation analysis of the CAPN3 gene in Italian patients with suspected LGMD type 2. (Abstract/Poster in rivista) (Prodotto della ricerca)
• A novel mutation in FKRP gene in Italian patient with LGMD. (Abstract/Poster in rivista) (Prodotto della ricerca)
• A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• A Novel Lys 130 Gln Mutation of the TAU gene. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Clinical and genetic analysis of a four-generation family with autosomal dominant cerebellar ataxia (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• A functional G-463A polymorphism in the myeloperoxidase gene promoter and Parkinson’s disease (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1) and temporal lobe epilepsy: no evidence of association analysis for genetic variant in promoter region of the gene. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Genetic association of Homer 1 gene and Levodopa induced dyskinesia (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Ceruloplasmin gene variations and Parkinson’s disease: an association study in Southern Italian population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Association study between HFE, TF, TFR genes and Parkinson’s disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Genetic analysis of SCA2 and SCA17 in familial Parkinson’s disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Variations in two lipid metabolizing genes and susceptibility to sporadic Alzheimer’s disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Leber’s hereditary optic neuropathy and Multiple Sclerosis: Harding's syndrome. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. (Articolo in rivista) (Prodotto della ricerca)
• Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
• Small effective population size and genetic homogeneity in the Val Borbera isolate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• “LRRK2 Gly2019Ser mutation and Parkinson’s disease in Italian population” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Screening for PINK1 mutations in patients with early-and late-onset Parkinson’s disease” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Relationship between SCN1A mutations and SMEI” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Characterization of phenylketonuria alleles in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
• Discrepancies in reporting the CAG repeat lengths for Huntington's disease. (Articolo in rivista) (Prodotto della ricerca)
• Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome (Articolo in rivista) (Prodotto della ricerca)
• Microarray analysis identifies up-regulation of CD36 in human PBMC treated with endocannabinoids. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Detection of cryptic chromosome rearrangements by Bac Genome Array- CGH in five patients with normal and/or abnormal karyotype... (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Clinical utility gene card for: Beckwith-Wiedemann syndrome. (Articolo in rivista) (Prodotto della ricerca)
• Fragile X premutation alleles in movement disorders. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Mitochondrial DNA haplogroups and the risk of Parkinson disease in a cohort of patients from South Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• GIGYF2 (TRNC15) mutation analysis in patients with familial Parkinson’s disease with autosomal-dominant transmission. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Characterization of the promoter and new isoformes of CACNA1A gene (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Haemochromatosis gene mutations and risk of coronary artery disease. (Articolo in rivista) (Prodotto della ricerca)
• PINK1 mutations and the risk of Parkinson’s disease in family members of Southern Italy (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Linkage studies of non syndromic recessive deafness in a Turkishkindred which segregates DFNB9. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Beyond consent: ordinary abuses in HD presymptomatic genetic testing in Italy. (Articolo in rivista) (Prodotto della ricerca)
• A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The frequency of limb girdle muscular dystrophy 1c in southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. (Articolo in rivista) (Prodotto della ricerca)
• C677T mutation in the 5, 10-MTHFR gene and risk of Down syndrome in Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. (Articolo in rivista) (Prodotto della ricerca)
• Meta-analysis of genome-wide linkage studies for multiple sclerosis, using an extended GSMA method. (Articolo in rivista) (Prodotto della ricerca)
• Identification of a gene involved in hereditary microcytic anemia due to defective iron absorption in a Sardinian family (Abstract in rivista) (Prodotto della ricerca)
• Comparing population structure as inferred from genealogical versus genetic information (Articolo in rivista) (Prodotto della ricerca)
• MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment (Articolo in rivista) (Prodotto della ricerca)
• Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• From surnames to history of Y-chromosomes: the Sardinian population as a paradigm. (Articolo in rivista) (Prodotto della ricerca)
• Clinical utility gene card for: Cornelia de Lange syndrome. (Articolo in rivista) (Prodotto della ricerca)
• Two SNPs in the Fas gene on chromosome 10 are not associated with Italian Sporadic Alzheimer’s Disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Identification of a geographic area characterized by “reproductive longevity” in the Sardinia island (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• “Parkin mutations in patients with early-onset parkinsonism”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mutational analysis of SCN2A gene in Italian families with Benign Neonatal-Infantile Seizures (BFNIS) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Understanding the role of IRAK-M in allergic asthma: replication in European children and functional analysis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Linkage study in families with febrile seizures (Abstract in rivista) (Prodotto della ricerca)
• A novel CAPN3 gene mutation in a LGMD patient from Southern Italy (Abstract/Poster in rivista) (Prodotto della ricerca)
• D678N mutation in a patient with an early-onset Alzheimer's Disease (Abstract/Poster in rivista) (Prodotto della ricerca)
• Impaired Ganglioside synthesis involved with pathogenic mechanism in a familial form of multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

Alternative label

• European journal of human genetics. (literal)
• EJHG (literal)
• Eur. j. hum. genet. (literal)

Language

• eng (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn

• 1018-4813 (literal)

Preferred label

• European journal of human genetics (literal)

Publisher

• S. Karger Paris: CHE (literal)

Incoming links:

Rivista

• Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Microarray analysis identifies up-regulation of CD36 in human PBMC treated with endocannabinoids. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. (Articolo in rivista) (Prodotto della ricerca)
• MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment (Articolo in rivista) (Prodotto della ricerca)
• Comparing population structure as inferred from genealogical versus genetic information (Articolo in rivista) (Prodotto della ricerca)
• From surnames to history of Y-chromosomes: the Sardinian population as a paradigm. (Articolo in rivista) (Prodotto della ricerca)
• C677T mutation in the 5, 10-MTHFR gene and risk of Down syndrome in Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Impaired Ganglioside synthesis involved with pathogenic mechanism in a familial form of multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. (Articolo in rivista) (Prodotto della ricerca)
• Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome (Articolo in rivista) (Prodotto della ricerca)
• A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. (Articolo in rivista) (Prodotto della ricerca)
• Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Haemochromatosis gene mutations and risk of coronary artery disease. (Articolo in rivista) (Prodotto della ricerca)
• Linkage studies of non syndromic recessive deafness in a Turkishkindred which segregates DFNB9. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Meta-analysis of genome-wide linkage studies for multiple sclerosis, using an extended GSMA method. (Articolo in rivista) (Prodotto della ricerca)
• Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study (Articolo in rivista) (Prodotto della ricerca)
• Prenatal testing for Huntington's disease: a European collaborative study (Articolo in rivista) (Prodotto della ricerca)
• Rehabilitation treatment in HD: benefits beyond motor and verbal improvement. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Beyond consent: ordinary abuses in HD presymptomatic genetic testing in Italy. (Articolo in rivista) (Prodotto della ricerca)
• Communication of risk in families living with Huntington’s disease: a web survey to explore what they think, what they do. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Identification of a gene involved in hereditary microcytic anemia due to defective iron absorption in a Sardinian family (Abstract in rivista) (Prodotto della ricerca)
• Two SNPs in the Fas gene on chromosome 10 are not associated with Italian Sporadic Alzheimer’s Disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• “Parkin mutations in patients with early-onset parkinsonism”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mutational analysis of SCN2A gene in Italian families with Benign Neonatal-Infantile Seizures (BFNIS) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Homer1 promoter analysis in Parkinson’s disease: association study with psycotic symptoms. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Parkinsonism and essential tremor in a family with pseudominant inheritance of PARK2. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mutation analysis of the CAPN3 gene in Italian patients with suspected LGMD type 2. (Abstract/Poster in rivista) (Prodotto della ricerca)
• A novel mutation in FKRP gene in Italian patient with LGMD. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Clinical and genetic analysis of a four-generation family with autosomal dominant cerebellar ataxia (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• A functional G-463A polymorphism in the myeloperoxidase gene promoter and Parkinson’s disease (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Genetic association of Homer 1 gene and Levodopa induced dyskinesia (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Ceruloplasmin gene variations and Parkinson’s disease: an association study in Southern Italian population. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Association study between HFE, TF, TFR genes and Parkinson’s disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Genetic analysis of SCA2 and SCA17 in familial Parkinson’s disease. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Variations in two lipid metabolizing genes and susceptibility to sporadic Alzheimer’s disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Leber’s hereditary optic neuropathy and Multiple Sclerosis: Harding's syndrome. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• HLA and surnames as paradigms of the genetic history of Lombardy (Northern Italy). (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Lack of association between Leber’s hereditary optic neuropathy primary point mutations and multiple sclerosis in the region of Calabria (Italy). (Abstract/Poster in rivista) (Prodotto della ricerca)
• Alzheimer’s Disease and the Cystatin C gene polymorphism: an association study. (Abstract/Poster in rivista) (Prodotto della ricerca)
• “Mutational analysis of EFHC1 gene in Italy families with Juvenile Myoclonic Epilepsy” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Screening for DJ-1 mutations in early onset Parkinson’s disease (PD)” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• The association of single nucleotide E-selectin gene polymorphism with Multiple Sclerosis’. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Elam-1 genotyping in Italian population with Multiple Sclerosis : molecular characterization of A561C variation. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Alpha-synuclein in familial Parkinson‘s disease and Lewy Body Dementia (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Intercellular adhesion molecole-1 gene (ICAM-1) polymorphism: study of association with Multiple Sclerosis. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Understanding the role of IRAK-M in allergic asthma: replication in European children and functional analysis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• A Novel Lys 130 Gln Mutation of the TAU gene. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1) and temporal lobe epilepsy: no evidence of association analysis for genetic variant in promoter region of the gene. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Is M129V of the Prion protein gene ( PRNP) associated with mild temporal lobe epilepsy? (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• “LRRK2 Gly2019Ser mutation and Parkinson’s disease in Italian population” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Screening for PINK1 mutations in patients with early-and late-onset Parkinson’s disease” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Relationship between SCN1A mutations and SMEI” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2 (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• PINK1 mutations and the risk of Parkinson’s disease in family members of Southern Italy (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Fragile X premutation alleles in movement disorders. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Mitochondrial DNA haplogroups and the risk of Parkinson disease in a cohort of patients from South Italy (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• GIGYF2 (TRNC15) mutation analysis in patients with familial Parkinson’s disease with autosomal-dominant transmission. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• The frequency of limb girdle muscular dystrophy 1c in southern Italy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Clinical Utility Gene Card for: incontinentia pigmenti. (Articolo in rivista) (Prodotto della ricerca)
• Detection of cryptic chromosome rearrangements by Bac Genome Array- CGH in five patients with normal and/or abnormal karyotype... (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Identification of a geographic area characterized by “reproductive longevity” in the Sardinia island (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Linkage study in families with febrile seizures (Abstract in rivista) (Prodotto della ricerca)
• Second family with hearing impairment linked to 19q13 and refined DFNA4 localization. (Articolo in rivista) (Prodotto della ricerca)
• Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
• Small effective population size and genetic homogeneity in the Val Borbera isolate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• RNA-Seq and human complex diseases: recent accomplishments and future perspectives. (Articolo in rivista) (Prodotto della ricerca)
• Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• R521C mutation in the FUS gene in a large Italian family (Abstract/Poster in rivista) (Prodotto della ricerca)
• A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Extent of linkage disequilibrium in Sardinian population (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Studies on linkage and association of asthma with the Interleukin 4-Receptor alpha chain gene (IL-4Ra) in Sardinian population (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Characterization of phenylketonuria alleles in the Italian population. (Articolo in rivista) (Prodotto della ricerca)
• Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Characterization of the promoter and new isoformes of CACNA1A gene (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Clinical utility gene card for: Beckwith-Wiedemann syndrome. (Articolo in rivista) (Prodotto della ricerca)
• Exclusion of trinucleotide repeat expansion in JPH3 gene causing disease in Italian patients with Huntington-like phenotype (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• A novel CAPN3 gene mutation in a LGMD patient from Southern Italy (Abstract/Poster in rivista) (Prodotto della ricerca)
• D678N mutation in a patient with an early-onset Alzheimer's Disease (Abstract/Poster in rivista) (Prodotto della ricerca)
• Erratum: EMQN Best Practice Guidelines for molecular genetic testing of SCAs (European Journal of Human Genetics) (Articolo in rivista) (Prodotto della ricerca)
• Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Discrepancies in reporting the CAG repeat lengths for Huntington's disease. (Articolo in rivista) (Prodotto della ricerca)
• Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Clinical utility gene card for: Cornelia de Lange syndrome. (Articolo in rivista) (Prodotto della ricerca)