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HUMAN MOLECULAR GENETICS
Rivista
Codice:
E078692
ISSN:
0964-6906
Dati Generali
Dati Generali
Pubblicazioni (30)
Pulisci
Ordina Pubblicazioni:
crescente
decrescente
A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease
Articolo
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels
Articolo
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Articolo
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
Articolo
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism
Articolo
A practical guide to orient yourself in the labyrinth of genome databases
Articolo
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants
Articolo
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Articolo
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
Articolo
Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility
Articolo
Drosophila-related expressed sequences
Articolo
EYA4, a novel vertebrate gene related to Drosophila eyes absent
Articolo
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
Articolo
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria
Articolo
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
Articolo
Genome-wide association study identifies multiple loci associated with bladder cancer risk
Articolo
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
Articolo
HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS.
Articolo
Heteropolymerization of α-1-antitrypsin mutants in cell models mimicking heterozygosity
Articolo
Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of european ancestry
Articolo
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency
Articolo
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.
Articolo
Linkage analysis conditional on HLA status supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12.
Articolo
MYOTONIC DYSTROPHY: TISSUE-SPECIFIC EFFECT OF SOMATIC CTG EXPANSION ON ALLELE-SPECIFIC DMAHP/SIX5 EXPRESSION.
Articolo
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.
Articolo
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia
Articolo
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function
Articolo
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
Articolo
Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36.
Articolo
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome
Articolo
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