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Tracing genetic history of modern humans using X-chromosome lineages.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 431, doi. 10.1007/s00439-007-0413-4
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- Publication type:
- Article
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations – phenotypic spectrum and frequencies of GJB2 mutations in Austria.
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- Human Genetics, 2002, v. 111, n. 2, p. 145, doi. 10.1007/s00439-002-0762-y
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- Publication type:
- Article
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
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- Human Genetics, 2001, v. 108, n. 3, p. 269, doi. 10.1007/s004390100484
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- Publication type:
- Article
Mutation analysis in glycogen storage disease type 1 non-a.
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- Human Genetics, 2000, v. 107, n. 3, p. 285, doi. 10.1007/s004390000371
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- Publication type:
- Article
Significant differentiation in the apolipoprotein(a)/lipoprotein(a) trait between chimpanzees from Western and Central Africa.
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- American Journal of Primatology, 2017, v. 79, n. 9, p. n/a, doi. 10.1002/ajp.22683
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- Publication type:
- Article
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1177, doi. 10.1038/ejhg.2013.18
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- Publication type:
- Article
Fluorescence in situ hybridization (FISH) on peripheral blood smears for monitoring Philadelphia chromosome-positive chronic myeloid leukemia (CML) during interferon treatment: A new strategy for remission assessment.
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- Genes, Chromosomes & Cancer, 1998, v. 21, n. 2, p. 90, doi. 10.1002/(SICI)1098-2264(199802)21:2<90::AID-GCC3>3.0.CO;2-2
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- Article
Genetic disorders of high-density lipoprotein metabolism and atherosclerosis-what can we learn?
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- European Journal of Clinical Investigation, 1982, v. 12, n. 1, p. 5, doi. 10.1111/j.1365-2362.1982.tb00931.x
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- Publication type:
- Article
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
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- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1154, doi. 10.1038/ejhg.2009.29
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- Publication type:
- Article
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.
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- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 179, doi. 10.1038/sj.ejhg.5201742
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- Publication type:
- Article
Genetics of the Lp(a)/apo(a) system in an autochthonous Black African population from the Gabon.
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- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 190, doi. 10.1038/sj.ejhg.5201512
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- Publication type:
- Article
Apolipoprotein(a) isoform-specific changes of lipoprotein(a) after kidney transplantation.
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- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 693, doi. 10.1038/sj.ejhg.5201016
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- Publication type:
- Article
The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
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- European Journal of Human Genetics, 2002, v. 10, n. 6, p. 351, doi. 10.1038/sj.ejhg.5200812
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- Publication type:
- Article
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 226, doi. 10.1038/sj.ejhg.5200607
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- Publication type:
- Article
Dopamine D4 receptor polymorphism and idiopathic Parkinson's disease.
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- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 397, doi. 10.1038/sj.ejhg.5200297
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- Publication type:
- Article
Genetic control of lipoprotein(a) concentrations is different in Africans and Caucasians.
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- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 169, doi. 10.1038/sj.ejhg.5200290
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- Publication type:
- Article
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 68, doi. 10.1038/sj.ejhg.5200260
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- Publication type:
- Article
Concentrations of the atherogenic Lp(a) are elevated in familial hypercholesterolaemia: a sib pair and family analysis.
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- European Journal of Human Genetics, 1998, v. 6, n. 1, p. 50, doi. 10.1038/sj.ejhg.5200152
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- Publication type:
- Article
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier.
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- European Journal of Human Genetics, 1998, v. 6, n. 1, p. 75, doi. 10.1038/sj.ejhg.5200155
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- Publication type:
- Article
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
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- Nature Genetics, 2008, v. 40, n. 10, p. 1163, doi. 10.1038/ng.225
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- Publication type:
- Article
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
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- Nature Genetics, 2004, v. 36, n. 8, p. 850, doi. 10.1038/ng1394
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- Publication type:
- Article
Adaptations to Climate-Mediated Selective Pressures in Humans.
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- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1001375
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- Article
Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
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- Prenatal Diagnosis, 2002, v. 22, n. 9, p. 827, doi. 10.1002/pd.419
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- Publication type:
- Article
X-Linked <i>MTMR8</i> Diversity and Evolutionary History of Sub-Saharan Populations.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080710
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- Publication type:
- Article
Counting the repetitive kringle-IV repeats in the gene encoding human apolipoprotein(a) by fibre-FISH.
- Published in:
- Nature Genetics, 1999, v. 21, n. 4, p. 357, doi. 10.1038/7681
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- Publication type:
- Article
High-resolution mapping of the human 4q21 and the mouse 5E3 SCYB chemokine cluster by fiber-fluorescence in situ hybridization.
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- Immunogenetics, 2001, v. 53, n. 7, p. 611, doi. 10.1007/s002510100363
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- Article
Refinement of the GINGF3 locus for hereditary gingival fibromatosis.
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- 2010
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- Publication type:
- journal article
Influence of hematocrit on the measurement of lipoproteins demonstrated by the example of lipoprotein(a).
- Published in:
- Kidney International, 1998, v. 54, n. 4, p. 1385, doi. 10.1046/j.1523-1755.1998.00086.x
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- Publication type:
- Article
Apolipoprotein E phenotyping from serum by Western blotting.
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- Electrophoresis, 1986, v. 7, n. 11, p. 492, doi. 10.1002/elps.1150071103
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- Publication type:
- Article
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
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- Human Mutation, 2010, v. 31, n. 5, p. 544, doi. 10.1002/humu.21224
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- Publication type:
- Article
Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff.
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- Human Mutation, 2007, v. 28, n. 11, p. 1141, doi. 10.1002/humu.20575
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- Publication type:
- Article
A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a).
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- Human Mutation, 2004, v. 24, n. 6, p. 474, doi. 10.1002/humu.20101
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- Publication type:
- Article
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria (Communicated by Richard G.H. Cotton) Online Citation: Human Mutation, Mutation in Brief #638 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf)
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- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167
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- Publication type:
- Article
The 342?kb deletion in GJB6 is not present in patients with non?syndromic hearing loss from AustriaCommunicated by Richard G.H. CottonOnline Citation:Human Mutation, Mutation in Brief #638 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf
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- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167
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- Article
Mutations in the human DHCR7 gene.
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- Human Mutation, 2001, v. 17, n. 3, p. 172, doi. 10.1002/humu.2
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- Publication type:
- Article
Allele-specific competitive blocker PCR: A one-step method with applicability to pool screening.
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- Human Mutation, 1995, v. 6, n. 2, p. 163, doi. 10.1002/humu.1380060209
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- Publication type:
- Article
T cell expressed PKCθ demonstrates cell-type selective function.
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- European Journal of Immunology, 2000, v. 30, n. 12, p. 3645, doi. 10.1002/1521-4141(200012)30:12<3645::AID-IMMU3645>3.0.CO;2-#
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- Publication type:
- Article
Protein kinase Cθ, a selective upstream regulator of JNK/SAPK and IL-2 promoter activation in Jurkat T cells.
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- European Journal of Immunology, 1999, v. 29, n. 1, p. 132, doi. 10.1002/(SICI)1521-4141(199901)29:01<132::AID-IMMU132>3.0.CO;2-7
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- Publication type:
- Article
LDL-unbound apolipoprotein(a) and carotid atherosclerosis in hemodialysis patients.
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- Clinical Genetics, 1997, v. 52, n. 5, p. 377, doi. 10.1111/j.1399-0004.1997.tb04357.x
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- Publication type:
- Article
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2239, doi. 10.1002/ajmg.a.35450
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- Publication type:
- Article
A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction.
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- European Heart Journal, 2017, v. 38, n. 23, p. 1823, doi. 10.1093/eurheartj/ehx174
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- Publication type:
- Article
Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 815, doi. 10.1093/hmg/10.8.815
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- Publication type:
- Article
Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 815, doi. 10.1093/hmg/10.8.815
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- Publication type:
- Article
Molecular basis of congenital Lp(a) deficiency: a frequent apo(a) 'null' mutation in Caucasians.
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- Human Molecular Genetics, 1999, v. 8, n. 11, p. 2087, doi. 10.1093/hmg/8.11.2087
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- Publication type:
- Article
Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 257, doi. 10.1093/hmg/7.2.257
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- Publication type:
- Article
Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk.
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- Clinical Genetics, 1976, v. 9, n. 6, p. 545, doi. 10.1111/j.1399-0004.1976.tb01611.x
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- Publication type:
- Article
Sequence Variation within the KIV-2 Copy Number Polymorphism of the Human LPA Gene in African, Asian, and European Populations.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121582
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- Publication type:
- Article