Works matching IS 10184813 AND DT 2008 AND VI 16
Results: 230
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119
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- Article
Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1526, doi. 10.1038/ejhg.2008.105
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- Article
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1430, doi. 10.1038/ejhg.2008.110
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- Article
Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1535, doi. 10.1038/ejhg.2008.116
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- Article
Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1437, doi. 10.1038/ejhg.2008.118
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- Article
Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1507, doi. 10.1038/ejhg.2008.102
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- Article
What process attributes of clinical genetics services could maximise patient benefits?
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1467, doi. 10.1038/ejhg.2008.121
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- Article
Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1512, doi. 10.1038/ejhg.2008.127
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- Article
Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1450, doi. 10.1038/ejhg.2008.128
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- Article
Deciphering the genetics of hereditary non-syndromic colorectal cancer.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1477, doi. 10.1038/ejhg.2008.129
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- Article
Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1487, doi. 10.1038/ejhg.2008.130
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- Article
Influence of MUC1 genetic variation on prostate cancer risk and survival.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1521, doi. 10.1038/ejhg.2008.131
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- Article
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1499, doi. 10.1038/ejhg.2008.132
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- Article
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1459, doi. 10.1038/ejhg.2008.134
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- Article
Investigation of the fine structure of European populations with applications to disease association studies.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1413, doi. 10.1038/ejhg.2008.210
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- Article
Testing replication of a 5-SNP set for general cognitive ability in six population samples.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1388, doi. 10.1038/ejhg.2008.100
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- Article
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1358, doi. 10.1038/ejhg.2008.103
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- Article
Health first, genetics second: exploring families' experiences of communicating genetic information.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1329, doi. 10.1038/ejhg.2008.104
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- Article
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1301, doi. 10.1038/ejhg.2008.107
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- Article
Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1407, doi. 10.1038/ejhg.2008.108
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- Article
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1311, doi. 10.1038/ejhg.2008.109
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- Article
Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1350, doi. 10.1038/ejhg.2008.111
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- Article
The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1364, doi. 10.1038/ejhg.2008.112
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- Article
Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1380, doi. 10.1038/ejhg.2008.113
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- Article
Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1372, doi. 10.1038/ejhg.2008.114
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- Article
The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1396, doi. 10.1038/ejhg.2008.117
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- Article
Twenty-year trends in prevalence and survival of Down syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1336, doi. 10.1038/ejhg.2008.122
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- Article
Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1404, doi. 10.1038/ejhg.2008.135
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- Article
PTEN hamartoma tumor syndromes.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1289, doi. 10.1038/ejhg.2008.162
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- Article
Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1318, doi. 10.1038/ejhg.2008.78
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- Article
Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1341, doi. 10.1038/ejhg.2008.88
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- Article
Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1254, doi. 10.1038/ejhg.2008.101
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- Article
Gene–environment interactions for complex traits: definitions, methodological requirements and challenges.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1164, doi. 10.1038/ejhg.2008.106
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- Article
Victor McKusick, 1921–2008: the founder of medical genetics as we know it.
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- 2008
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- Obituary
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65
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- Article
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1187, doi. 10.1038/ejhg.2008.71
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- Article
The effect of pedigree structure on detection of deletions and other null alleles.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1225, doi. 10.1038/ejhg.2008.75
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- Article
Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1275, doi. 10.1038/ejhg.2008.76
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- Article
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1245, doi. 10.1038/ejhg.2008.85
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- Article
Frequent mutations in the 3′-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1235, doi. 10.1038/ejhg.2008.81
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- Publication type:
- Article
An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1217, doi. 10.1038/ejhg.2008.82
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- Article
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1240, doi. 10.1038/ejhg.2008.83
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- Article
Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1193, doi. 10.1038/ejhg.2008.84
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- Article
The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1283, doi. 10.1038/ejhg.2008.79
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- Article
A missense mutation in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1176, doi. 10.1038/ejhg.2008.91
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- Article
Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1201, doi. 10.1038/ejhg.2008.92
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- Article
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1208, doi. 10.1038/ejhg.2008.93
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- Article
Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?
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- 2008
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- Publication type:
- Letter
Hypotheses in genome-wide association scans.
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- 2008
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- Letter
Reply to Nothnagel et al.
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- 2008
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- Publication type:
- Letter