Works matching IS 00099163 AND DT 2000
Results: 187
Insights into the pathogenesis of neurofibromatosis 1 vasculopathy.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 341, doi. 10.1034/j.1399-0004.2000.580501.x
- By:
- Publication type:
- Article
The vasculopathy of NF1 and histogenesis control genes.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 345, doi. 10.1034/j.1399-0004.2000.580502.x
- By:
- Publication type:
- Article
Huntington's disease on a GeneChip.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 348, doi. 10.1034/j.1399-0004.2000.580503.1.x
- By:
- Publication type:
- Article
A glutamine-rich protein involved in Notch signalling.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 349, doi. 10.1034/j.1399-0004.2000.580503.2.x
- By:
- Publication type:
- Article
Ventricular septal defect associated with microdeletions of chromosome 22q11.2.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 493, doi. 10.1034/j.1399-0004.2000.580612.x
- By:
- Publication type:
- Article
Ectodermal dysplasias: not only ‘skin’ deep.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 415, doi. 10.1034/j.1399-0004.2000.580601.x
- By:
- Publication type:
- Article
Factors influencing sib risks for Multiple Sclerosis.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 431, doi. 10.1034/j.1399-0004.2000.580602.x
- By:
- Publication type:
- Article
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 436, doi. 10.1034/j.1399-0004.2000.580603.x
- By:
- Publication type:
- Article
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 447, doi. 10.1034/j.1399-0004.2000.580604.x
- By:
- Publication type:
- Article
Influence of 699C→T and 1080C→T polymorphisms of the cystathionine β-synthase gene on plasma homocysteine levels.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 455, doi. 10.1034/j.1399-0004.2000.580605.x
- By:
- Publication type:
- Article
Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 460, doi. 10.1034/j.1399-0004.2000.580606.x
- By:
- Publication type:
- Article
Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 469, doi. 10.1034/j.1399-0004.2000.580607.x
- By:
- Publication type:
- Article
Exclusion of chromosome 15q21.1 in autosomal-recessive Weill–Marchesani syndrome in an inbred Lebanese family.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 473, doi. 10.1034/j.1399-0004.2000.580608.x
- By:
- Publication type:
- Article
Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 479, doi. 10.1034/j.1399-0004.2000.580609.x
- By:
- Publication type:
- Article
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 483, doi. 10.1034/j.1399-0004.2000.580610.x
- By:
- Publication type:
- Article
Segregation of a supernumerary del(15) marker chromosome in sperm.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 6, p. 488, doi. 10.1034/j.1399-0004.2000.580611.x
- By:
- Publication type:
- Article
Testing all possible protein–protein interactions in yeast.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 350, doi. 10.1034/j.1399-0004.2000.580503.3.x
- By:
- Publication type:
- Article
The causes and consequences of random and non-random X chromosome inactivation in humans.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 353, doi. 10.1034/j.1399-0004.2000.580504.x
- By:
- Publication type:
- Article
Hugo Ethics Committee statement on benefit sharing.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 364, doi. 10.1034/j.1399-0004.2000.580505.x
- By:
- Publication type:
- Article
Benefit-sharing and other protections for communities in genetic research.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 367, doi. 10.1034/j.1399-0004.2000.580506.x
- By:
- Publication type:
- Article
The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 369, doi. 10.1034/j.1399-0004.2000.580507.x
- By:
- Publication type:
- Article
A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 375, doi. 10.1034/j.1399-0004.2000.580508.x
- By:
- Publication type:
- Article
Sudden death caused by pulmonary thromboembolism in Proteus syndrome.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 386, doi. 10.1034/j.1399-0004.2000.580509.x
- By:
- Publication type:
- Article
Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 390, doi. 10.1034/j.1399-0004.2000.580510.x
- By:
- Publication type:
- Article
Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 396, doi. 10.1034/j.1399-0004.2000.580511.x
- By:
- Publication type:
- Article
Single nucleotide polymorphisms and the future of genetic epidemiology.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 250, doi. 10.1034/j.1399-0004.2000.580402.x
- By:
- Publication type:
- Article
The frequency of the C677T substitution in the methylenetetrahydrofolate reductase gene in Manitoba.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 406, doi. 10.1034/j.1399-0004.2000.580513.x
- By:
- Publication type:
- Article
Microbubbles used to ‘pop’ new gene into the heart.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 269, doi. 10.1034/j.1399-0004.2000.580403.3.x
- By:
- Publication type:
- Article
Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 409, doi. 10.1034/j.1399-0004.2000.580514.x
- By:
- Publication type:
- Article
Pedigree parables.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 241, doi. 10.1034/j.1399-0004.2000.580401.x
- By:
- Publication type:
- Article
Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 403, doi. 10.1034/j.1399-0004.2000.580512.x
- By:
- Publication type:
- Article
Repairing the genomic defect in muscular dystrophy.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 265, doi. 10.1034/j.1399-0004.2000.580403.1.x
- By:
- Publication type:
- Article
Shedding new light on the pathogenesis of familial Alzheimer disease.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 266, doi. 10.1034/j.1399-0004.2000.580403.2.x
- By:
- Publication type:
- Article
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (ΔVal 122) presenting with carpal tunnel syndrome.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 5, p. 411, doi. 10.1034/j.1399-0004.2000.580515.x
- By:
- Publication type:
- Article
Collagens: building blocks at the end of the development line.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 270, doi. 10.1034/j.1399-0004.2000.580404.x
- By:
- Publication type:
- Article
Low density lipoprotein receptor-related protein gene polymorphisms and risk for late-onset Alzheimer's disease in a Japanese population.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 319, doi. 10.1034/j.1399-0004.2000.580410.x
- By:
- Publication type:
- Article
Genetic landmarks through philately – Barbara McClintock.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 280, doi. 10.1034/j.1399-0004.2000.580405.x
- By:
- Publication type:
- Article
Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 291, doi. 10.1034/j.1399-0004.2000.580407.x
- By:
- Publication type:
- Article
A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 299, doi. 10.1034/j.1399-0004.2000.580408.x
- By:
- Publication type:
- Article
Optimization of the fluorescence in situ hybridization (FISH) technique for high detection efficiency of very small proportions of target interphase nuclei.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 309, doi. 10.1034/j.1399-0004.2000.580409.x
- By:
- Publication type:
- Article
Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 324, doi. 10.1034/j.1399-0004.2000.580411.x
- By:
- Publication type:
- Article
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 284, doi. 10.1034/j.1399-0004.2000.580406.x
- By:
- Publication type:
- Article
Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 329, doi. 10.1034/j.1399-0004.2000.580412.x
- By:
- Publication type:
- Article
The incidence of cystic fibrosis (CF) mutations among patients from Croatia.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 333, doi. 10.1034/j.1399-0004.2000.580413.x
- By:
- Publication type:
- Article
Clitoris and labia minora agenesis – an undescribed malformation.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 336, doi. 10.1034/j.1399-0004.2000.580414.x
- By:
- Publication type:
- Article
Determination of the frequency of the 35delG allele in Brazilian neonates.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 4, p. 339, doi. 10.1034/j.1399-0004.2000.580415.x
- By:
- Publication type:
- Article
The clinical significance of fragile sites on human chromosomes.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 157, doi. 10.1034/j.1399-0004.2000.580301.x
- By:
- Publication type:
- Article
The road less traveled: functional recovery from neurodegeneration.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 3, p. 162, doi. 10.1034/j.1399-0004.2000.580302.1.x
- By:
- Publication type:
- Article
Improvements in adenoviral vector technology: overcoming barriers for gene therapy.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 1, p. 1, doi. 10.1034/j.1399-0004.2000.580101.x
- By:
- Publication type:
- Article
Altering the pathway to human gene therapy.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 1, p. 12, doi. 10.1034/j.1399-0004.2000.580102.x
- By:
- Publication type:
- Article