2.7K
Articles
124K
Citations
3.3
avg. Impact Factor
149
h-index

Most Cited Articles of Department of Human Molecular Genetics and Biochemistry in 1998

TitleJournalYearCitations
Enhanced phosphorylation of p53 by ATM in response to DNA damageScience19981.6K
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humansScience1998269
ATM: from gene to functionHuman Molecular Genetics1998245
Time-dependent variations of the skin barrier function in humans: transepidermal water loss, stratum corneum hydration, skin surface pH, and skin temperatureJournal of Investigative Dermatology1998211
Genotype-phenotype relationships in ataxia-telangiectasia and variantsAmerican Journal of Human Genetics1998211
A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locusHuman Genetics1998188
ATM binds to beta-adaptin in cytoplasmic vesiclesProceedings of the National Academy of Sciences of the United States of America1998155
The mouse and human genes encoding the recognition component of the N-end rule pathwayProceedings of the National Academy of Sciences of the United States of America1998142
Selective loss of dopaminergic nigro-striatal neurons in brains of Atm-deficient miceProceedings of the National Academy of Sciences of the United States of America199885
A Novel Mutation in the Coding Sequence of the FY*B Allele of the Duffy Chemokine Receptor Gene Is Associated With an Altered Erythrocyte PhenotypeBlood199876
Sleep disturbances in children with attention-deficit/hyperactivity disorder: a comparative study with healthy siblingsJournal of Learning Disabilities199872
Increased rate of nondisjunction in sex cells derived from low-quality semenHuman Genetics199860
The calpain-calpastatin system and protein degradation in fusing myoblastsBiochimica Et Biophysica Acta - Molecular Cell Research199856
Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3American Journal of Human Genetics199848
Genetic influence on the prevalence of torus palatinusAmerican Journal of Medical Genetics Part A199841
Prospects for gene therapy of insulin-dependent diabetes mellitusDiabetologia199839
Asynchronous replication of homologous alpha-satellite DNA loci in man is associated with nondisjunctionCytogenetic and Genome Research199839
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in IsraelHuman Mutation199836
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groupsHuman Mutation199835
NGF induces transient but not sustained activation of ERK in PC12 mutant cells incapable of differentiatingJournal of Cellular Biochemistry199833
Upregulation of the calcium-dependent protease, calpain, during keratinocyte differentiationBritish Journal of Dermatology199832
Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher diseaseBlood Cells, Molecules, and Diseases199823
A novel mutation in the coding sequence of the FY*B allele of the Duffy chemokine receptor gene is associated with an altered erythrocyte phenotypeBlood199822
Inhibition of Streptomyces griseus aminopeptidase and effects of calcium ions on catalysis and binding--comparisons with the homologous enzyme Aeromonas proteolytica aminopeptidaseFEBS Journal199821
Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional statusHuman Genetics199816