Works matching DE "HUMAN molecular genetics"
Results: 186
From genomics to mechanistic insight: A global perspective on molecular deficits induced by environmental agents.
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- Environmental & Molecular Mutagenesis, 2007, v. 48, n. 5, p. 395, doi. 10.1002/em.20310
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- Article
New ideas about atrial fibrillation 50 years on.
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- Nature, 2002, v. 415, n. 6868, p. 219, doi. 10.1038/415219a
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- Article
The CYP17 Msp A1 polymorphism is not associated with an increased risk of uterine leiomyomas in a Japanese population.
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- Gynecological Endocrinology, 2006, v. 22, n. 2, p. 87, doi. 10.1080/09513590500476222
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- Article
Molecular genetic basis of Gilbert’s syndrome.
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- Journal of Gastroenterology & Hepatology, 1999, v. 14, n. 10, p. 960, doi. 10.1046/j.1440-1746.1999.01984.x
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- Article
Phenotyping asthma patients for a gene mapping study in Finland.
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- Clinical & Experimental Allergy, 1998, v. 28, p. 40, doi. 10.1046/j.1365-2222.1998.0280s1040.x
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- Article
Genetic analysis of four self-incompatible lines in Brassica napus.
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- Plant Breeding, 2001, v. 120, n. 1, p. 57, doi. 10.1046/j.1439-0523.2001.00551.x
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- Article
Overcoming methodical limits of standard RHD genotyping by next-generation sequencing.
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- Vox Sanguinis, 2011, v. 100, n. 4, p. 381, doi. 10.1111/j.1423-0410.2010.01444.x
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- Article
MOLECULAR BIOLOGY, HUMAN DEVELOPMENT AND ART HISTORY - REFLECTIONS ABOUT THE "HUMAN GENOME" MONOGRAPH (DR. GEORGETA CARDOŞ AND PROF. DR. DR. ALEXANDER RODEWALD).
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- Oltenia, Studii si Comunicari Seria Stiintele Naturii, 2014, v. 30, n. 2, p. 255
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- Article
Genome-wide Significant Associations for Cannabis Dependence Severity: Relevance to Psychiatric Disorders.
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- 2016
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- journal article
NRAMP1 and TNF-α polymorphisms and susceptibility to tuberculosis in Thais.
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- Respirology, 2007, v. 12, n. 2, p. 202, doi. 10.1111/j.1440-1843.2006.01037.x
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- Article
Book reviews.
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- 2000
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- Book Review
Pharmacogenetics and the future of medical practice.
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- British Journal of Clinical Pharmacology, 2002, v. 54, n. 2, p. 221, doi. 10.1046/j.1365-2125.2002.01630.x
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- Article
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
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- Human Molecular Genetics, 2001, v. 10, n. 9, p. 911, doi. 10.1093/hmg/10.9.911
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- Article
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
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- Human Molecular Genetics, 2001, v. 10, n. 9, p. 953, doi. 10.1093/hmg/10.9.953
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- Article
Inducible expression of mutant α -synuclein decreases proteasome activity and increases sensitivity to mitochondria-dependent apoptosis.
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- Human Molecular Genetics, 2001, v. 10, n. 9, p. 919, doi. 10.1093/hmg/10.9.919
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- Article
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.
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- Human Molecular Genetics, 2001, v. 10, n. 3, p. 243, doi. 10.1093/hmg/10.3.243
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- Article
Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1795, doi. 10.1093/hmg/9.12.1795
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- Article
Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1813, doi. 10.1093/hmg/9.12.1813
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- Article
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1753, doi. 10.1093/hmg/9.12.1753
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- Article
Link between a novel human γ D-crystallin allele and a unique cataract phenotype explained by protein crystallography.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1779, doi. 10.1093/hmg/9.12.1779
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- Article
Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1829, doi. 10.1093/hmg/9.12.1829
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- Article
Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1873, doi. 10.1093/hmg/9.12.1873
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- Article
Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1759, doi. 10.1093/hmg/9.12.1759
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- Article
A Cre- lox recombination system for the targeted integration of circular yeast artificial chromosomes into embryonic stem cells.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1745, doi. 10.1093/hmg/9.12.1745
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- Article
Unequal exchange at the Charcot-Marie-Tooth disease type 1A recombination hot-spot is not elevated above the genome average rate.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1881, doi. 10.1093/hmg/9.12.1881
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- Article
Human mini-chromosomes with minimal centromeres.
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- Human Molecular Genetics, 2000, v. 9, n. 12, p. 1891, doi. 10.1093/hmg/9.12.1891
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- Article
Neocentromeres and alpha satellite: a proposed structural code for functional human centromere DNA.
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- Human Molecular Genetics, 2000, v. 9, n. 2, p. 149, doi. 10.1093/hmg/9.2.149
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- Article
Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2425, doi. 10.1093/hmg/8.13.2425
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- Article
Gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2387, doi. 10.1093/hmg/8.13.2387
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- Article
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2497, doi. 10.1093/hmg/8.13.2497
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- Article
Very large (CAG)[sup n] DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2473, doi. 10.1093/hmg/8.13.2473
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Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2525, doi. 10.1093/hmg/8.13.2525
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Mapping of a blood pressure quantitative trait locus to chromosome 15q in a Chinese population.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2551
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- Article
Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2437, doi. 10.1093/hmg/8.13.2437
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- Article
Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2377, doi. 10.1093/hmg/8.13.2377
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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2533, doi. 10.1093/hmg/8.13.2533
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Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2339, doi. 10.1093/hmg/8.13.2339
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- Article
Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human Beta-thalassemic mutations.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2415, doi. 10.1093/hmg/8.13.2415
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- Article
Disassembly of nuclear inclusions in the dividing cell--a novel insight into neurodegeneration.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2451, doi. 10.1093/hmg/8.13.2451
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- Article
Molecular genetics of the Finnish disease heritage.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1913, doi. 10.1093/hmg/8.10.1913
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- Article
Williams-Beuren syndrome: genes and mechanisms.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1947, doi. 10.1093/hmg/8.10.1947
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- Article
Repetitive conundrums of centromere structureand function.
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- Human Molecular Genetics, 1999, v. 8, n. 2, p. 151, doi. 10.1093/hmg/8.2.151
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- Article
Hereditary lymphedema: evidence for linkage and genetic heterogeneity.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
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- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2089
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- Article
NF2 gene in neurofibromatosis type 2 patients.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article
A C-terminal di-leucine is required for localization of the Menkes protein in the trans -Golgi network.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article
Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women.
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- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2129
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- Article
Characterization of a gene encoding Survival Motor Neuron (SMN)-related protein, a constituent of the spliceosome complex.
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- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2149
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- Article
Cloning and characterization of Krct, a member of a novel subfamily of serine/threonine kinases.
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- Human Molecular Genetics, 1998, v. 7, n. 13
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- Article