Published in Clin Genet on April 18, 2011
The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med (2012) 1.66
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. Neurogenetics (2011) 1.23
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiol Aging (2012) 1.13
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations. J Neurol Neurosurg Psychiatry (2012) 1.04
Genetic architecture of ALS in Sardinia. Neurobiol Aging (2014) 0.86
TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord (2012) 0.85
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations. J Neurol (2012) 0.85
TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. J Alzheimers Dis (2013) 0.85
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms. Neurogenetics (2013) 0.80
Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations. J Neurol (2014) 0.79
Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation. Sci Rep (2016) 0.77
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. Neurobiol Aging (2015) 0.75
Genetic mutations in RNA-binding proteins and their roles in ALS. Hum Genet (2017) 0.75
Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet (1996) 3.13
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet (1994) 2.07
Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod (1998) 1.81
The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet (1992) 1.67
Non-disjunction of chromosome 18. Hum Mol Genet (1998) 1.62
Mitochondrial deafness. Clin Genet (2007) 1.61
In-vitro antimicrobial activity and chemical composition of Sardinian Thymus essential oils. Lett Appl Microbiol (1999) 1.60
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet (1997) 1.57
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet (1999) 1.44
Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res (2000) 1.40
Diminished response to cytotoxic therapy in G-6-PD deficiency. Lancet (1980) 1.39
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21. Am J Hum Genet (1992) 1.38
Clinical and molecular aspects of aniridia. Clin Genet (2010) 1.34
Interstitial deletion 1p in a 30 year old woman. J Med Genet (1987) 1.29
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21. J Invest Dermatol (2001) 1.28
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. Am J Hum Genet (1990) 1.27
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. Genomics (1993) 1.26
Relevance of residue 116 of HLA-B27 in determining susceptibility to ankylosing spondylitis. Eur J Immunol (1995) 1.26
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet (2008) 1.21
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet (1995) 1.21
The "Sardinian" HLA-A30,B18,DR3,DQw2 haplotype constantly lacks the 21-OHA and C4B genes. Is it an ancestral haplotype without duplication? Immunogenetics (1989) 1.14
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet (1998) 1.12
West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history. Tissue Antigens (2001) 1.10
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics (1990) 1.08
A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Nat Genet (1995) 1.04
New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q. J Med Genet (1987) 1.04
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome. Am J Med Genet (1999) 1.03
Gemcitabine plus vinorelbine yields better survival outcome than vinorelbine alone in elderly patients with advanced non-small cell lung cancer. A Southern Italy Cooperative Oncology Group (SICOG) phase III trial. Lung Cancer (2001) 1.02
Prenatal diagnosis of hypochondroplasia: report of two cases. Am J Med Genet A (2006) 1.01
Comparative study of bactericidal activities, postantibiotic effects, and effects of bacterial virulence of penicillin G and six macrolides against Streptococcus pneumoniae. Antimicrob Agents Chemother (1997) 0.98
Scratch induction in the rat by intradermal serotonin: a model for pruritus. Acta Derm Venereol (2001) 0.98
A report of pure 7p duplication syndrome and review of the literature. Am J Med Genet A (2006) 0.98
Systemic lupus erythematosus in Europe at the change of the millennium: lessons from the "Euro-Lupus Project". Autoimmun Rev (2005) 0.97
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet (1999) 0.97
Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. J Med Genet (1999) 0.97
Clinical variability of genetic isolates of Cohen syndrome. Clin Genet (2011) 0.96
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet (1992) 0.96
DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet (1992) 0.95
Gynecomastia in a male after dasatinib treatment for chronic myeloid leukemia. Leukemia (2008) 0.94
Allogeneic bone marrow transplantation combined with multiple anti-HIV-1 treatment in a case of AIDS. Bone Marrow Transplant (1993) 0.93
Molecular cytogenetic characterization and origin of two de novo duplication 9p cases. Am J Med Genet (2000) 0.93
Population genomics in Sardinia: a novel approach to hunt for genomic combinations underlying complex traits and diseases. Cytogenet Cell Genet (1999) 0.92
"Compensatory" uniparental disomy of chromosome 21 in two cases. J Med Genet (1994) 0.92
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet (1999) 0.91
BRCA1 mutation analysis in breast/ovarian cancer families from Greece. Hum Mutat (2000) 0.91
D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21. Genomics (1992) 0.89
Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS). J Med Genet (1994) 0.89
Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet (1996) 0.89
Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet (1998) 0.89
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21. Clin Genet (1993) 0.89
Distribution of killer cell immunoglobulin-like receptors genes in the Italian Caucasian population. J Transl Med (2006) 0.88
Rare chromosome 20 variants encountered during prenatal diagnosis. Prenat Diagn (1986) 0.88
Cisplatin, gemcitabine, and paclitaxel in locally advanced or metastatic non-small-cell lung cancer: a phase I-II study. Southern Italy Cooperative Oncology Group. J Clin Oncol (1999) 0.88
HLA-B35 frequency variations correlate with malaria infection in Sardinia. Tissue Antigens (1998) 0.87
Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol (1999) 0.87
Anti-ganglioside antibodies in a large cohort of European patients with systemic lupus erythematosus: clinical, serological, and HLA class II gene associations. European Concerted Action on the Immunogenetics of SLE. J Rheumatol (2000) 0.86
Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. Hum Mutat (2001) 0.86
HLA class II alleles associations of anticardiolipin and anti-beta2GPI antibodies in a large series of European patients with systemic lupus erythematosus. Lupus (2000) 0.86
Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in a Greek population of blood donors. Am J Hematol (1999) 0.86
HLA and multiple skin carcinomas. Dermatologica (1988) 0.86
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter. Am J Med Genet (1997) 0.86
Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia. Blood (1998) 0.86
Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. Genomics (1991) 0.86
Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN). Tissue Antigens (2002) 0.86
Status at two years in 121 very low birth weight survivors related to neonatal intraventricular haemorrhage and mode of delivery. Acta Paediatr Scand (1986) 0.85
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients. Am J Hum Genet (1991) 0.85
A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis. Prenat Diagn (2002) 0.85
Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am J Med Genet (1994) 0.85
HLA-DPB1 alleles association of anticardiolipin and anti-beta2GPI antibodies in a large series of European patients with systemic lupus erythematosus. Lupus (2003) 0.84
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype. Am J Med Genet (2000) 0.84
Measuring patient satisfaction: collecting useful data. J Nurs Qual Assur (1988) 0.84
The conundrum of HLA-DRB1*14:01/*14:54 and HLA-DRB3*02:01/*02:02 mismatches in unrelated hematopoietic SCT. Bone Marrow Transplant (2010) 0.83
Exercise training favors increased insulin-stimulated glucose uptake in skeletal muscle in contrast to adipose tissue: a randomized study using FDG PET imaging. Am J Physiol Endocrinol Metab (2013) 0.83
Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. Clin Genet (2004) 0.83
Association between different morphological types and abnormal karyotypes in early pregnancy loss. Ultrasound Obstet Gynecol (2010) 0.83
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree. Eur J Hum Genet (2001) 0.83
Conjugal amyotrophic lateral sclerosis: a report on a couple from Sardinia, Italy. Ital J Neurol Sci (1998) 0.83
Increased resistance to activated protein C and factor V Leiden in recurrent abortions. Review of other hypercoagulability factors. Eur J Contracept Reprod Health Care (1999) 0.83
Lack of influence of apolipoprotein E4 on lipoprotein levels in the island population of Sardinia. Eur J Clin Invest (1998) 0.83
Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization. Mol Med Rep (2010) 0.82
Association of HLA-DRB3*0202 and serum IgG antibodies to Chlamydia pneumoniae with essential hypertension in a highly homogeneous population from Majorca (Balearic Islands, Spain). J Hum Hypertens (2005) 0.82
Defining the allelic variants of HLA-A30 in the Sardinian population using amplification refractory mutation system--polymerase chain reaction. Hum Immunol (1995) 0.82
Growing skull fracture--rupture of coronal suture caused by vacuum extraction. Neuroradiology (1987) 0.82
Trisomy 14 mosaicism in a 2 year old girl. J Med Genet (1986) 0.82
Patient survival after total knee arthroplasty. 5-year data in 926 patients. Acta Orthop Scand (1998) 0.82
Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings. ORL J Otorhinolaryngol Relat Spec (2002) 0.82
FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population. Genet Epidemiol (1998) 0.81
Characterization of 4AOHW cell line panel including new data for the 10IHW panel. Hum Immunol (1993) 0.81
Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings. Fetal Diagn Ther (2009) 0.81
The role of killer immunoglobulin-like receptor haplotypes on the outcome of unrelated donor haematopoietic SCT for thalassaemia. Bone Marrow Transplant (2010) 0.81
Genetics of Behçet's disease in Sardinia: two distinct extended HLA haplotypes harbour the B*51 allele in the normal population and in patients. Clin Exp Rheumatol (2012) 0.81
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population. Clin Endocrinol (Oxf) (2012) 0.81
HLA structure of the Sardinian population: a haplotype study of 551 families. Tissue Antigens (1992) 0.81
Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms. Hum Genet (1997) 0.81
Dinucleotide repeat (GT)n markers on chromosome 21. Genomics (1992) 0.80
Distribution of the CCR5 gene 32 base pair deletion and SDF1-3'A variant in healthy individuals from different populations. Immunogenetics (1998) 0.80