American journal of human genetics

Label

• American journal of human genetics (literal)

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

• Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency revealed by single strand conformation and sequence analysis (Articolo in rivista) (Prodotto della ricerca)
• Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• POF2 gene may be responsible for the ovarian phenotype of Turner syndrome. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• The human diaphanous gene is responsible for premature ovarian failure (POF). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Fertility and malarial polymorphisms in Sardinia. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function (Articolo in rivista) (Prodotto della ricerca)
• A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. (Articolo in rivista) (Prodotto della ricerca)
• The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. (Articolo in rivista) (Prodotto della ricerca)
• MOLECULAR AND CELLULAR ANALYSIS OF THE DNA-REPAIR DEFECT IN A PATIENT IN XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D WHO HAS THE CLINICAL-FEATURES OF XERODERMA-PIGMENTOSUM AND COCKAYNE-SYNDROME (Articolo in rivista) (Prodotto della ricerca)
• Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation (Articolo in rivista) (Prodotto della ricerca)
• VCP gene analisys in ALS sporadic patients (Abstract in rivista) (Prodotto della ricerca)
• Novel MFN2 mutations in two familial cases with Charcot-Marie-Tooth type 2A (Abstract in rivista) (Prodotto della ricerca)
• Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity (Articolo in rivista) (Prodotto della ricerca)
• Demyelinating sensory-motor neuropathy with secondary axonopathy: A novel mutation in Connexin32 (Abstract in rivista) (Prodotto della ricerca)
• Estimating autosomal recessive disease incidence from known levels of inbreeding. (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
• A patient affected by CADASIL carrying a novel mutation on the exon 7 of the NOTCH3 gene (Abstract in rivista) (Prodotto della ricerca)
• Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A genomewide screen for autism susceptibility loci. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses (Articolo in rivista) (Prodotto della ricerca)
• E163L homozygous DJ-1 mutation in a family from southern italy with amyotrophic lateral sclerosis-parkinsonism-dementia complex (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 (Articolo in rivista) (Prodotto della ricerca)
• The LCR at the IKBKG locus is prone to recombine (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• G-protein-coupled receptor kinase 5 and dementia in Parkinsons disease. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Association study between HFE, TF, TFR1 genes and Parkinson disease. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Description of a four-generation family with autosomal dominant cerebellar ataxia: clinical and genetic analysis. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Pitfalls in homozygosity mapping. (Articolo in rivista) (Prodotto della ricerca)
• Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel nucleotide change in the intron 12 of the SPAST gene might produce an aberrant protein transcript (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. (Articolo in rivista) (Prodotto della ricerca)
• Origin Heterogeneity of Hb Lepore-Boston Gene in Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• From Sequence Analysis to diseases identification in the distal human Xq28. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• “Parkin mutations in patients with early-onset parkinsonism”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Molecular pathology and haplotype analysis of Wilson's disease in Mediterranean populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5 (Articolo in rivista) (Prodotto della ricerca)
• Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (Articolo in rivista) (Prodotto della ricerca)
• Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa. (Articolo in rivista) (Prodotto della ricerca)
• Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Screening for PINK1 mutations in patients with early and late-onset Parkinson’s disease (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutation analyisis of RPGR gene in patients with X-linked Retinitis Pigmentosa (RP3) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mutational analysis of EFHC1 gene in families with JME (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Association between DJ-1 gene polymorphism and PD.” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Small-pool PCR analysis of premutation alleles at the FRDA ( frataxin) locus. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mitochondrial mutations of Leber’s hereditary optic neuropathy : a risk factor for multiple sclerosis? (Abstract/Poster in rivista) (Prodotto della ricerca)
• Gene-age interactions in blood pressure regulation: A large-scale investigation with the CHARGE, global BPgen, and ICBP consortia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome Mapping of Multiple Sclerosis in alarge American pedigree. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy (Articolo in rivista) (Prodotto della ricerca)
• Familial Alzheimer's disease with amyloid precursor protein D678N mutation: a case report (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Duchenne/Becher like phenotype and L276I mutation in FKRP gene (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Genetic study of SCN1A-related epilepsies in southern Italy. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Parkin, Pink1 and DJ-1 heterozygous mutations in southern italian patients with early-onset parkinsonism. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Ataxia with oculomotor apraxia in a family from southern italy: a clinical and genetic study” (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Fraxe intermediate alleles are associated with Parkinson’s disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Autosomal dominant distal motor neuropathy: an Italian family not linked to known loci (Abstract in rivista) (Prodotto della ricerca)
• Beta Globin haplotype frequencies and distribution in Sardinian and Corsican populations (Abstract in rivista) (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)
• Role of candidate regions for asthma susceptibility on Sardinian population (Abstract in rivista) (Prodotto della ricerca)
• “Alpha-synuclein promoter haplotypes and dementia in Parkinson’s disease”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “A common founder for the Lrrk2 Gly2019Ser mutation in Italian PD patients”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• “Linkage study in three Italian families with autosomal dominant nocturnal frontal lobe epilepsy”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Parkin gene analysis in late onset autosomal recessive Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• “Clinic and genetic study in a family with a clinical picture of pantothenate kinase-associated neurodegeneration”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “SIL1 and SARA2 mutations in a family with Marinesco-S¼ogren and Chylomicron Retention Diseases”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• The Fas gene polymorhisms in Italian patients with Sporadic Alzheimer’s Disease. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. (Articolo in rivista) (Prodotto della ricerca)
• Apo-1/Fas gene polymorphisms and multiple sclerosis in Southern Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
• A novel missense mutation in the Presenilin-1 (PSEN1) gene associated with sporadic Early Onset Alzheimer Disease (EOAD). (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Polymorphism Ile587Val in the EIF2B5 gene as susceptibility factor in multiple sclerosis (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• NOTCH3 gene mutations in twins with CADASIL (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Linkage disequilibrium patterns and tagSNP transferability among European populations. (Articolo in rivista) (Prodotto della ricerca)
• CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY (Articolo in rivista) (Prodotto della ricerca)
• Mapping a dominant form of multinodular goier to chromosome Xp22. (Articolo in rivista) (Prodotto della ricerca)
• The SERPINE2 Gene and Chronic Obstructive Pulmonary Disease (Articolo in rivista) (Prodotto della ricerca)
• Investigation of the inducible nitric oxide synthase gene (NOS2A) polymorphisms in Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Screening for DJ-1 mutations in early onset PD.” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mutational and linkage analysis in three families from southern Italy with autosomal dominant nocturnal frontal lobe epilepsy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Relationship between SCN1A mutations and Severe Myoclonic Epilepsy in Infancy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• VLA-4 gene polymorphisms in Italian patients with Multiple Sclerosis. (Abstract/Poster in rivista) (Prodotto della ricerca)
• A revised root for the human Y chromosomal phylogenetic tree: The origin of patrilineal diversity in Africa (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutational analysis of the presenilin 2 gene in a group of Italian patients with familial Alzheimer's disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Traumatic Brain Injury and APOE-e4: cause or risk of Alzheimer’s Disease? (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• A new essential Hypertension susceptibility locus on chromosome 2p24-25 detected by genome-wide search. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Surnames as neutral alleles. Regions of abrupt change in surnames' geographical distribution in Italy. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Genetic history of phenylketonuria mutations in Italy. (Articolo in rivista) (Prodotto della ricerca)
• Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. (Articolo in rivista) (Prodotto della ricerca)
• Evidence for still ongoing convergence evolution of the lactase persistence T-13910 alleles in humans (Articolo in rivista) (Prodotto della ricerca)
• Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency. (Articolo in rivista) (Prodotto della ricerca)
• Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52 and DXS134): analysis of a cosmid clone and a yeast artificial chromosome. (Articolo in rivista) (Prodotto della ricerca)
• X;autosome balanced translocations and premature ovarian failure: chromatin organization around the breakpoints. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)

Alternative label

• AJHG (literal)
• American journal of human genetics. (literal)
• Am. j. hum. genet. (literal)

Language

• eng (literal)

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

• 0002-9297 (literal)

Preferred label

• American journal of human genetics (literal)

Publisher

• University of Chicago Press [etc.] Chicago [etc.] USA (literal)

Incoming links:

Rivista

• A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa. (Articolo in rivista) (Prodotto della ricerca)
• Linkage disequilibrium patterns and tagSNP transferability among European populations. (Articolo in rivista) (Prodotto della ricerca)
• Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function (Articolo in rivista) (Prodotto della ricerca)
• Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5 (Articolo in rivista) (Prodotto della ricerca)
• Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mapping a dominant form of multinodular goier to chromosome Xp22. (Articolo in rivista) (Prodotto della ricerca)
• Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. (Articolo in rivista) (Prodotto della ricerca)
• Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy (Articolo in rivista) (Prodotto della ricerca)
• Genome Mapping of Multiple Sclerosis in alarge American pedigree. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The SERPINE2 Gene and Chronic Obstructive Pulmonary Disease (Articolo in rivista) (Prodotto della ricerca)
• A new essential Hypertension susceptibility locus on chromosome 2p24-25 detected by genome-wide search. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. (Articolo in rivista) (Prodotto della ricerca)
• Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. (Articolo in rivista) (Prodotto della ricerca)
• The LCR at the IKBKG locus is prone to recombine (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A revised root for the human Y chromosomal phylogenetic tree: The origin of patrilineal diversity in Africa (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1 (Articolo in rivista) (Prodotto della ricerca)
• Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation (Articolo in rivista) (Prodotto della ricerca)
• Evidence for still ongoing convergence evolution of the lactase persistence T-13910 alleles in humans (Articolo in rivista) (Prodotto della ricerca)
• A genomewide screen for autism susceptibility loci. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Small-pool PCR analysis of premutation alleles at the FRDA ( frataxin) locus. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• A novel missense mutation in the Presenilin-1 (PSEN1) gene associated with sporadic Early Onset Alzheimer Disease (EOAD). (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Screening for DJ-1 mutations in early onset PD.” (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mutational and linkage analysis in three families from southern Italy with autosomal dominant nocturnal frontal lobe epilepsy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Relationship between SCN1A mutations and Severe Myoclonic Epilepsy in Infancy (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Investigation of the inducible nitric oxide synthase gene (NOS2A) polymorphisms in Multiple Sclerosis. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• “Mutational analysis of SCN2A gene in Italian families with Benign Neonatal-Infantile Seizures (BFNIS)”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Alpha-synuclein promoter haplotypes and dementia in Parkinson’s disease”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “A common founder for the Lrrk2 Gly2019Ser mutation in Italian PD patients”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “Linkage study in three Italian families with autosomal dominant nocturnal frontal lobe epilepsy”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Genetic study of SCN1A-related epilepsies in southern Italy. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Parkin, Pink1 and DJ-1 heterozygous mutations in southern italian patients with early-onset parkinsonism. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Ataxia with oculomotor apraxia in a family from southern italy: a clinical and genetic study” (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Fraxe intermediate alleles are associated with Parkinson’s disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• X;autosome balanced translocations and premature ovarian failure: chromatin organization around the breakpoints. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Mitochondrial mutations of Leber’s hereditary optic neuropathy : a risk factor for multiple sclerosis? (Abstract/Poster in rivista) (Prodotto della ricerca)
• Mutational analysis of EFHC1 gene in families with JME (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Association between DJ-1 gene polymorphism and PD.” (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)
• The Fas gene polymorhisms in Italian patients with Sporadic Alzheimer’s Disease. (Abstract/Poster in rivista) (Prodotto della ricerca)
• “Clinic and genetic study in a family with a clinical picture of pantothenate kinase-associated neurodegeneration”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• “SIL1 and SARA2 mutations in a family with Marinesco-S¼ogren and Chylomicron Retention Diseases”. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Apo-1/Fas gene polymorphisms and multiple sclerosis in Southern Italy. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Parkin gene analysis in late onset autosomal recessive Parkinsons disease (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• VLA-4 gene polymorphisms in Italian patients with Multiple Sclerosis. (Abstract/Poster in rivista) (Prodotto della ricerca)
• Mutational analysis of the presenilin 2 gene in a group of Italian patients with familial Alzheimer's disease. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Traumatic Brain Injury and APOE-e4: cause or risk of Alzheimer’s 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)
• G-protein-coupled receptor kinase 5 and dementia in Parkinsons disease. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Association study between HFE, TF, TFR1 genes and Parkinson disease. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• Description of a four-generation family with autosomal dominant cerebellar ataxia: clinical and genetic analysis. (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
• E163L homozygous DJ-1 mutation in a family from southern italy with amyotrophic lateral sclerosis-parkinsonism-dementia complex (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. (Articolo in rivista) (Prodotto della ricerca)
• A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Fertility and malarial polymorphisms in Sardinia. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Estimating autosomal recessive disease incidence from known levels of inbreeding. (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
• Pitfalls in homozygosity mapping. (Articolo in rivista) (Prodotto della ricerca)
• Surnames as neutral alleles. Regions of abrupt change in surnames' geographical distribution in Italy. (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genetic history of phenylketonuria mutations in Italy. (Articolo in rivista) (Prodotto della ricerca)
• Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52 and DXS134): analysis of a cosmid clone and a yeast artificial chromosome. (Articolo in rivista) (Prodotto della ricerca)
• Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity (Articolo in rivista) (Prodotto della ricerca)
• A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. (Articolo in rivista) (Prodotto della ricerca)
• The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. (Articolo in rivista) (Prodotto della ricerca)
• From Sequence Analysis to diseases identification in the distal human Xq28. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Familial Alzheimer's disease with amyloid precursor protein D678N mutation: a case report (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Duchenne/Becher like phenotype and L276I mutation in FKRP gene (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency revealed by single strand conformation and sequence analysis (Articolo in rivista) (Prodotto della ricerca)
• Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency. (Articolo in rivista) (Prodotto della ricerca)
• Origin Heterogeneity of Hb Lepore-Boston Gene in Italy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• MOLECULAR AND CELLULAR ANALYSIS OF THE DNA-REPAIR DEFECT IN A PATIENT IN XERODERMA-PIGMENTOSUM COMPLEMENTATION GROUP-D WHO HAS THE CLINICAL-FEATURES OF XERODERMA-PIGMENTOSUM AND COCKAYNE-SYNDROME (Articolo in rivista) (Prodotto della ricerca)
• Molecular pathology and haplotype analysis of Wilson's disease in Mediterranean populations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• POF2 gene may be responsible for the ovarian phenotype of Turner syndrome. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• The human diaphanous gene is responsible for premature ovarian failure (POF). (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• Mutation analyisis of RPGR gene in patients with X-linked Retinitis Pigmentosa (RP3) (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Beta Globin haplotype frequencies and distribution in Sardinian and Corsican populations (Abstract in rivista) (Prodotto della ricerca)
• Role of candidate regions for asthma susceptibility on Sardinian population (Abstract in rivista) (Prodotto della ricerca)
• Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• NOTCH3 gene mutations in twins with CADASIL (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Polymorphism Ile587Val in the EIF2B5 gene as susceptibility factor in multiple sclerosis (Abstract/Poster in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1107)
• Autosomal dominant distal motor neuropathy: an Italian family not linked to known loci (Abstract in rivista) (Prodotto della ricerca)
• CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY (Articolo in rivista) (Prodotto della ricerca)
• Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses (Articolo in rivista) (Prodotto della ricerca)
• A novel nucleotide change in the intron 12 of the SPAST gene might produce an aberrant protein transcript (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Novel MFN2 mutations in two familial cases with Charcot-Marie-Tooth type 2A (Abstract in rivista) (Prodotto della ricerca)
• Demyelinating sensory-motor neuropathy with secondary axonopathy: A novel mutation in Connexin32 (Abstract in rivista) (Prodotto della ricerca)
• Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Gene-age interactions in blood pressure regulation: A large-scale investigation with the CHARGE, global BPgen, and ICBP consortia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• VCP gene analisys in ALS sporadic patients (Abstract in rivista) (Prodotto della ricerca)
• A patient affected by CADASIL carrying a novel mutation on the exon 7 of the NOTCH3 gene (Abstract in rivista) (Prodotto della ricerca)