| Say what we mean, mean what we say |
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| Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplic |
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| Multiple Sclerosis: Light at the end of the tunnel |
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| Sex-specific, male-line transgenerational responses in humans |
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| Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis |
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| Association study of major risk single nucleotide polymorphisms in the common regulatory region of PARK2 and PACRG genes with leprosy in an Indian population |
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| Hidden population substructures in an apparently homogeneous population bias association studies |
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| Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population |
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✓ |
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Spanish population |
| Large animal models and gene therapy |
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| A novel mutation in PAX9 causes familial form of molar oligodontia |
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| Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease |
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| Family based association analysis of the IL2 and IL15 genes in allergic disorders |
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| BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition |
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| Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31–14.1 |
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| Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’ |
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| Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype |
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| Myotonic dystrophy-time to improve patient care and prepare for pathogenesis based treatments |
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| Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus |
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| Clustering of haplotypes based on phylogeny: how good a strategy for association testing? |
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| Optimal genotype determination in highly multiplexed SNP data |
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| Do we need a uniform regulatory system for biobanks across Europe? |
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| Segmental duplication density decrease with distance to human-mouse breaks of synteny |
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| Clock genes as a link between addiction and obesity |
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| Cancer Transcriptomics: Modeling metastasis |
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| Mouse models: Psoriasis: an epidermal disease after all? |
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| Improving the accuracy of BRCA1/2 mutation prediction: validation of the novel country-customized IC software |
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| Reply to Bottomley et al |
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| Genome-wide linkage scan for spontaneous DZ twinning |
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| Recent advances in array comparative genomic hybridization technologies and their applications in human genetics |
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| Carrier testing in minors: a systematic review of guidelines and position papers |
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| Genetic background of HSH in three Polish families and a patient with an X;9 translocation |
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✓ |
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Polish |
| Genetics of the Lp(a)/apo(a) system in an autochthonous Black African population from the Gabon |
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✓ |
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Black African |
| Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin |
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✓ |
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Asian Indian |
| Technology: A genome sequencing center in every lab |
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| Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes |
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| Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome |
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| On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease |
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| Association of β2 adrenergic receptor polymorphisms and related haplotypes with triglyceride and LDL-cholesterol levels |
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| Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations |
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✓ |
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European populations |
| Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects |
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| Analysing DNA patents in relation with diagnostic genetic testing |
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| Genetics of human heterotaxias |
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| Evidence of genetic enrichment for exceptional survival using a family approach: the Leiden Longevity Study |
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| Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers |
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| Complex disease: Pleiotropic gene effects in obesity and type 2 diabetes |
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| Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion |
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| Molecular diagnosis of human cancer type by gene expression profiles and independent component analysis |
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| SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample |
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| Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31 |
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| Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia |
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| Erratum: 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 review of international and UK-based ethical guidelines for researchers conducting nontherapeutic genetic studies in developing countries |
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| Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes |
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| Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome |
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| Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified |
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| Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population |
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| Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population |
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| The molecular genetics of haemochromatosis |
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| Association of the TSHR gene with Graves' disease: the first disease specific locus |
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| Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals |
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| Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1 |
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| A new edition of a must have handbook for genetic counsellors |
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| Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation |
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| Demography: Peopling the Americas |
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| Research network: EuroGentest – a European Network of Excellence aimed at harmonizing genetic testing services |
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| The place of the Basques in the European Y-chromosome diversity landscape |
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✓ |
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European |
| Biological clock: Biological clocks may modulate drug addiction |
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| Mutation spectrum leading to an attenuated phenotype in dystrophinopathies |
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| Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies |
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| Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity |
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| Cancer genetics: Finding the right mix |
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| p.R270X MECP2 mutation and mortality in Rett syndrome |
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| Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome |
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| Analysis of four neuroligin genes as candidates for autism |
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| Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level |
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| The pick of the crop |
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| Erratum: Measured haplotype analysis of the aldosterone synthase gene and heart size |
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| A most welcome new edition in a fast advancing field |
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| Deletion and duplication screening in the DMD gene using MLPA |
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| Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia |
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| No evidence for an association between extreme longevity and Microsomal Transfer Protein polymorphisms in a longitudinal study of 1651 nonagenarians |
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| Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency |
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| Early onset seizures and Rett-like features associated with mutations in CDKL5 |
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| Meta-analysis of four new genome scans for lipid parameters and analysis of positional candidates in positive linkage regions |
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| Research Networks: BioSapiens: a European network for integrated genome annotation |
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| Gene Expression: Growing up together may help genes go their separate ways |
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| Partners of mutation-carriers for Huntington's disease: forgotten persons? |
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| Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome |
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| Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob disease |
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| Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation |
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| Ultraconserved regions in multiple sclerosis |
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| Potential harms, anonymization, and the right to withdraw consent to biobank research |
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| Hereditary hearing loss—the updated resource book more needed than ever |
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| Genetic Epidemiology |
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| Genetic nephrology |
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| A classic genetic text about classic genetic texts |
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| PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism |
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| Genomics: The amazing complexity of the human transcriptome |
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| Communication of pharmacogenetic research results to HIV-infected treated patients: standpoints of professionals and patients |
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| Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel |
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| Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype |
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| Combining the case–control methodology with the small size transmission/disequilibrium test for multiallelic markers |
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| Estrogen receptor beta gene variants are associated with increased risk of Alzheimer's disease in women |
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| Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales |
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| Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy |
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| Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome |
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| Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation |
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| Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties |
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| Cancer Genetics: TSC1, TSC2, TSC3? or mosaicism? |
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| Typing without calling the allele: a strategy for inferring SNP haplotypes |
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| Immunogenetics: Safety in numbers |
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| Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I |
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| Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes |
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| RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity |
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| Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching |
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| The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view |
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| Bioinformatics: Computers or clinicians for complex disease risk assessment? |
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| Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome |
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| X Chromosome Inactivation: No longer ‘all-or-none’ |
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| Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes |
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| High-throughput pedigree drawing |
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| Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs |
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| The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study |
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| Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki–Shaffer syndrome |
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| Erratum: One-third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region |
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| Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes |
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| Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma |
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| An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients |
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| Childhood overgrowth in patients with common NF1 microdeletions |
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| Complex Disease: A new vision for age-related macular degeneration |
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| TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia |
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| Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population |
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✓ |
|
Chinese Han population |
| Association of DLG5 R30Q variant with inflammatory bowel disease |
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| An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray |
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| Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians |
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| Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display |
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| Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density |
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| Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes |
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| Hardy–Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power |
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| Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval |
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| Twin Research: Exploring female sexuality |
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| A new CARD15 mutation in Blau syndrome |
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| Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population |
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| Most DC-SIGNR transcripts at mucosal HIV transmission sites are alternatively spliced isoforms |
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| Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex |
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| Complex trait mapping in isolated populations: Are specific statistical methods required? |
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| Genetic stratification of pathogen-response-related and other variants within a homogeneous Caucasian Irish population |
✓ |
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✓ |
|
Irish population |
| Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail–Patella syndrome |
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| Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort |
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| Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome |
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| Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males |
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| Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort |
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| Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome |
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| Genetic professionals' reports of nondisclosure of genetic risk information within families |
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| Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions |
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| Homocysteine levels – before and after methionine loading – in 51 Dutch families |
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✓ |
|
Dutch |
| Evolutionary Genetics: The human brain – adaptation at many levels |
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| About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family |
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| Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers |
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| High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males |
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| COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia |
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| FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22) |
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| A y+LAT-1 mutant protein interferes with y+LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance |
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| Twin study of genetic and aging effects on X chromosome inactivation |
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| Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2) |
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| Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines |
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| Functional disomy of the Xq28 chromosome region |
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| Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A |
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| Frequency of large CFTR gene rearrangements in Italian CF patients |
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| Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments |
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| Genetic Epidemiology of Cancer: Relatively risky relatives |
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| Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation |
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| Genetic Testing: From chromosomes to DNA, a revolution in prenatal diagnosis |
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| Gene Therapy: The ‘pro-sense’ approach to Duchenne muscular dystrophy |
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| Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion |
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| Cancer Genetics: Activated Notch takes center stage in T-cell leukemogenesis |
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| Association between SLC11A1 (formerly NRAMP1) and the risk of sarcoidosis in Poland |
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| Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations |
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| Cascade Screening: Whose information is it anyway? |
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| A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia |
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| Erratum: 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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| Erratum: Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations |
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| Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes |
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| Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD |
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| Linkage disequilibrium patterns vary substantially among populations |
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| Determination of the ‘critical region’ for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR |
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| Confidentiality and serious harm in genetics |
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| Dilemma still not resolved |
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| Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy |
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| A common CTLA4 haplotype associated with coeliac disease |
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| Cascade testing in familial hypercholesterolaemia: how should family members be contacted? |
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| Defective protein glycosylation in patients with cutis laxa syndrome |
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| LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation |
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| A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype |
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| Haplotype structure of TNFRSF5-TNFSF5 (CD40–CD40L) and association analysis in systemic lupus erythematosus |
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