| Evolutionary Genetics: Genetics of lactase persistence – fresh lessons in the history of milk drinking |
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| Information and informed consent in a longitudinal screening involving children: a questionnaire survey |
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| Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations |
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✓ |
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European populations |
| Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation |
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| Statistical Genetics: Usual suspects in complex disease |
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| Research Network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation |
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✓ |
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a European network |
| Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences |
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| CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia |
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| X-chromosome as a marker for population history: linkage disequilibrium and haplotype study in Eurasian populations |
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| Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients |
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| New year, new faces and new copy |
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| Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene |
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| Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome |
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| Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations |
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| Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutatio |
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| Genomics: The human genome, revisited |
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| Margareta Mikkelsen, 4 November 1923–28 June 2004 |
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| Mosaic imprinting defect in a patient with an almost typical expression of the Prader–Willi syndrome |
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| FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene |
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| A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression |
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| Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays |
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| Possible role of USP26 in patients with severely impaired spermatogenesis |
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| Corneal dystrophies and degenerations: a molecular genetics approach |
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| Huntington's disease, third edition: Oxford monographs on medical genetics |
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| Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes |
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| MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever |
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| Evolutionary Genetics: Evolutionary path to the heart |
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| A large-scale study of the random variability of a coding sequence: a study on the CFTR gene |
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| Genomics: Polymorphic landscape of the human genome |
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| A genomewide linkage analysis for prostate cancer susceptibility genes in families from Germany |
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| Quantification of allele-specific G-protein β3 subunit mRNA transcripts in different human cells and tissues by Pyrosequencing |
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| Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness |
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| Haplotype structure of the beta adrenergic receptor genes in US Caucasians and African Americans |
✓ |
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✓ |
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African Americans |
| Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations |
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| A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome |
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| No germline FH mutations in familial breast cancer patients |
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| Biological variations, genetic polymorphisms and familial resemblance of TNF-α and IL-6 concentrations: STANISLAS cohort |
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| Mutation screening and association analysis of six candidate genes for autism on chromosome 7q |
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| PARK11 is not linked with Parkinson's disease in European families |
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✓ |
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European families |
| Y chromosome evidence for a founder effect in Ashkenazi Jews |
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| Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients |
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| Uroplakin III is not a major candidate gene for primary vesicoureteral reflux |
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| Epistatic interaction between the monoamine oxidase A and serotonin transporter genes in anorexia nervosa |
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| Population genetics: Female migration rate might not be greater than male rate |
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| Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited |
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| Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome |
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| Erratum: The geography of HFE mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testing |
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| Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene |
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| Deep genomics in shallow times: the finished sequence of human chromosomes 13 and 19 |
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| Association of haplotypes in the β-chemokine locus with multiple sclerosis |
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| Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome |
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| Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa |
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| Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population? |
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✓ |
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typical European population |
| Screening for FXTAS |
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| No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma |
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| Evaluation of NSD2 and NSD3 in overgrowth syndromes |
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| Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations |
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| Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA) |
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| A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects |
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| Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia |
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| Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study |
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| Mutations including the promoter region of myocilin/TIGR gene |
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| Pedigree linkage disequilibrium mapping of quantitative trait loci |
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| Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure |
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| Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China) |
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| One third of Danish hypertrophic cardiomyopathy patients have mutations in MYH7 rod region |
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| Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex |
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| Duchenne Muscular Dystrophy: Stalled at the junction? |
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| Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias |
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| New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications |
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| Subcellular distribution of HP1 proteins is altered in ICF syndrome |
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| Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene? |
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| Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects |
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| Family-based association study of DYX1C1 variants in autism |
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| Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome |
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| New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations |
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| Interaction between obesity-susceptibility loci in chromosome regions 2p25-p24 and 13q13-q21 |
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| Overdispersion of allele frequency differences between populations: implications for meta-analyses of genotypic disease associations |
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| Association of the mitochondrial DNA haplogroup J with longevity is population specific |
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| A second locus mapping to 2q35–36 for familial pseudohyperkalaemia |
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| A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome |
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| Model-fitting and linkage analysis of sodium–lithium countertransport |
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| Detection of the founder effect in Finnish CADASIL families |
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| An excess of chromosome 1 breakpoints in male infertility |
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| CD40 ligand gene and Kawasaki disease |
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| Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls |
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| Molecular evidence for absence of Y-linkage of the Hairy Ears trait |
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| Detect and adjust for population stratification in population-based association study using genomic control markers: an application of Affymetrix Genechip® Human Mapping 10K array |
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| Three consecutive triploidy pregnancies in a woman: genetic predisposition? |
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| TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary heart disease: The PRIME Study |
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| The common PPAR-γ2 Pro12Ala variant is associated with greater insulin sensitivity |
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| Fcγ receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis |
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| A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21 |
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| Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations |
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| Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations |
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| Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation |
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| Molecular diversity at the CYP2D6 locus in the Mediterranean region |
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| Combining the transmission disequilibrium test and case–control methodology using generalized logistic regression |
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| The geography of HFE mutations: molecular diagnosis of haemochromatosis and the globalization of genetic testing |
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| Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations |
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| QTLs for height: results of a full genome scan in Dutch sibling pairs |
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| Accurate determination of microsatellite allele frequencies in pooled DNA samples |
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| Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype |
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| Strategies for the rapid prenatal diagnosis of chromosome aneuploidy |
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| Genome-wide association study identifies ITGB3 as a QTL for whole blood serotonin |
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| Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment |
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| A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28 |
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| Breast cancer: role of polymorphisms in biotransformation enzymes |
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| Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome |
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| Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography |
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| Congenital deficiency of alpha feto-protein |
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| Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q |
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| Genetics of mitochondrial diseases |
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| Chromosome Abnormalities and Genetic Counselling |
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| Claes Lundsteen—in Memoriam |
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| Lipoxygenases at the heart of atherosclerosis susceptibility |
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| Erratum: Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12–13 and evidence for genetic heterogeneity |
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| A trio family study showing association of the lymphotoxin-α N26 (804A) allele with coronary artery disease |
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| Mutation analysis of five candidate genes in Chinese patients with hypospadias |
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✓ |
|
Chinese patients |
| Inverted duplications: how many of them are mosaic? |
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| Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts |
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| Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation |
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| Handling missing values in population data: consequences for maximum likelihood estimation of haplotype frequencies |
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| A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome |
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| 1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson–Forssman–Lehmann syndrome family |
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| RNAi of COL1A1 in mesenchymal progenitor cells |
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| Cox proportional hazards survival regression in haplotype-based association analysis using the Stochastic-EM algorithm |
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| Paraoxonase 1 polymorphisms and survival |
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| Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals |
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| Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis |
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| Familial correlations and inter-relationships of four asthma-associated quantitative phenotypes in 320 French EGEA families ascertained through asthmatic probands |
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| Establishment of genetic associations for complex diseases is independent of early study findings |
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| The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics |
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| CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients |
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✓ |
|
Dutch |
| Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells |
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| Screening of the ARX gene in 682 retarded males |
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| Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity |
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| Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells |
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| Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion |
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| Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype |
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| A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents |
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| Tools for molecular risk-stratification for clinical purposes: CLL as a prototype |
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| Remarkable variability in renal disease in a large Slovenian family with Fabry disease |
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| Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes |
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| Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus |
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| Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2 |
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| BRCA1/2 predictive testing: a study of uptake in two centres |
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| Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12–13 and evidence for genetic heterogeneity |
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| BRCA1 and sex ratio |
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| Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile |
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| Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region |
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| Application of microarrays to the analysis of the inactivation status of human X-linked genes expressed in lymphocytes |
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| Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency |
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| TEAM: a tool for the integration of expression, and linkage and association maps |
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| Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome |
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| Are common disease susceptibility alleles the same in outbred and founder populations? |
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| Efficient two-trait-locus linkage analysis through program optimization and parallelization: application to hypercholesterolemia |
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| Hereditary hemochromatosis: Is the gene race over? |
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| Professor Robin Michael Winter: 1950–2004. An appreciation |
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| Erratum: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japan |
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| Association between schizophrenia and DRD3 or HTR2 receptor gene variants |
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| Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12–q15 and refinement to a 4.4 Mb region |
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| Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family |
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| β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays |
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| Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements |
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| Haplotype associations define target regions for susceptibility loci in systemic lupus erythematosus |
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| Unbalanced segregation of a complex four-break 5q23–31 insertion in the 5p13 band in a malformed child |
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| Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families |
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✓ |
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European families |
| Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis |
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| Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations |
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✓ |
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European and American populations |
| Candidate gene approach in association studies: would the factor V Leiden mutation have been found by this approach? |
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| A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome |
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| Linkage disequilibrium in young genetically isolated Dutch population |
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| Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients |
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| Depletion of PKD1 by an antisense oligodeoxynucleotide induces premature G1/S-phase transition |
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| Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate |
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| New breast cancer gene suggests a role for BRCA2 in sporadic cases |
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| The genome after 50 years after Watson and Crick Genomes 2 |
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| Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations |
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| A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size |
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| Haplotype diversity and SNP frequency dependence in the description of genetic variation |
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| Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation |
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| Founder mutations among the Dutch |
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| Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader–Willi syndrome |
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| A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly |
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| Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments |
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| Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome |
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| Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt–Jakob disease |
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| Angiotensin I-converting enzyme polymorphisms, ACE level and blood pressure among Nigerians, Jamaicans and African-Americans |
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| Erratum: Genome-wide scanning for linkage in Finnish breast cancer families |
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| Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages |
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| Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2) |
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| Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects |
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| Detection of genotyping errors by Hardy–Weinberg equilibrium testing |
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| FMF revisited |
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| Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation |
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| Ciliary neurotrophic factor (CNTF) genotype and body composition |
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| Transmission disequilibrium test (TDT) for case–control studies |
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| Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients |
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| The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers |
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| Who supports the support workers? Cross-sectional survey of support workers’ experience and views |
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| Expansion to full mutation of a FMR1 intermediate allele over two generations |
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| RHD maternal–fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order |
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| Surfactant protein C gene variation in the Finnish population – association with perinatal respiratory disease |
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| Is haplotype tagging the panacea to association mapping studies? |
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| Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association in a large European multicenter study |
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✓ |
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European multicenter study |
| Exclusion of an extracolonic disease modifier locus on chromosome 1p33–36 in a large Swiss familial adenomatous polyposis kindred |
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| Vlax Roma history: what do coalescent-based methods tell us? |
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| Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity |
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| Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy |
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| Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND) |
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| Association between COL1A1 gene polymorphisms and bone size in Caucasians |
✓ |
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| Advances in AAV-mediated gene transfer for the treatment of inherited disorders |
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| MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population |
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| Absence of COCH mutations in patients with Meniere disease |
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| Electronic EJHG: The Web and the Wider World |
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| Erratum: Y chrosomal heritage of Croatian population and its island isolates |
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✓ |
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Croatian population |