| Provision and quality assurance of preimplantation genetic diagnosis in Europe |
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| Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons |
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| Popper revisited: GWAS here, last year |
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| Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity |
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| ‘It is not in my world’: an exploration of attitudes and influences associated with cystic fibrosis carrier screening |
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| ALS predisposition modifiers: Knock NOX, who's there? SOD1 mice still are |
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| Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome |
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| Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia |
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| The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes |
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| Carrier screening: look before you leap: Carrier screening for type 1 Gaucher disease: difficult questions |
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| Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease |
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| Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic |
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| Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17 |
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| The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor |
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| Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection |
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| Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity |
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| Is the prevalence of Klinefelter syndrome increasing? |
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| Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred |
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| Bases, Bits and Disease: Bases, bits and disease: a mathematical theory of human genetics |
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| Exploration of gene–gene interaction effects using entropy-based methods |
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| An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases |
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| X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X |
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| Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation |
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| A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy |
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| A novel sampling design to explore gene-longevity associations: the ECHA study |
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| Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease |
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| Sex-specific interaction between APOE and APOA5 variants and determination of plasma lipid levels |
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| The impact of genetics and genomics on public health |
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| Mental deficiency in three families with SPG4 spastic paraplegia |
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| Patient mutations alter ATRX targeting to PML nuclear bodies |
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| Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance |
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| Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease |
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| In memoriam: Dr Marina Seabright |
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| Consent and confidentiality: Consent and Confidentiality in Genetic Practice |
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| 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH |
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| Alström Syndrome |
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| Y-chromosome diversity characterizes the Gulf of Oman |
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| A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract |
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| Allele-specific regulation of primary cilia function by the von Hippel–Lindau tumor suppressor |
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| A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree |
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| Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al |
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| Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future |
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| What? Where? Which? WWW Resources for Geneticists: Bioinformatics for geneticists: a bioinformatics primer for the analysis of genetic data |
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| Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4 |
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| Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1 |
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| Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness |
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| Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population |
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| A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension |
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| Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations |
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| Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene |
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| Deletions Revealing Recessive Genes: Deletions that reveal recessive genes |
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| Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) |
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| Czech dysplasia metatarsal type: another type II collagen disorder |
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| Searching for genes influencing a complex disease: the case of coeliac disease |
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| Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband |
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| New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East |
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| Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists |
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✓ |
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European clinical geneticists |
| Genome-wide linkage scan for exercise participation in Dutch sibling pairs |
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| A simulation-based analysis of chromosome segment sharing among a group of arbitrarily related individuals |
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| Co-introgression of Y-chromosome haplogroups and the sickle cell gene across Africa's Sahel |
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| Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations |
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✓ |
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North American/European patients |
| Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example |
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| Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD |
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| Two-stage association tests for genome-wide association studies based on family data with arbitrary family structure |
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| So that is why you stink! |
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| Molecular Bases of Mental Retardation |
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| Erratum: 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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| En route towards genetic medicine in practice: a clinical genetics guide in the post genomic era |
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| Risk estimation for familial breast cancer: improving the system of counselling |
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| Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome |
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| Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses |
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| Guidelines for molecular karyotyping in constitutional genetic diagnosis |
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| Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease |
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| Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip |
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| The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells |
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| VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies |
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| A functional mutation in the LDLR promoter (−139C>G) in a patient with familial hypercholesterolemia |
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| Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy |
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| Patient Information: Patient information for genetic testing |
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| Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes' functions |
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| Process and outcome in communication of genetic information within families: a systematic review |
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| A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy |
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| A new mutation in TP63 is associated with age-related pathology |
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| Genetic analysis of the GRM1 gene in human melanoma susceptibility |
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| Polymorphism of XRCC1 predicts overall survival of gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population |
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✓ |
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Chinese population |
| Mining the literature for relationships between genes |
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| Erratum: Significant variation in haplotype block structure but conservation in tagSNP patterns among global populations |
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| Talking hypotheses |
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| Erratum: A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia |
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| Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome |
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| Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family |
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| Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma |
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| Partial duplications of the ATRX gene cause the ATR-X syndrome |
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| 3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism |
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| Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene |
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| An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries |
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| Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection ? |
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| Genetics of the ECG: QT or not QT- A genetic analysis of a complex electrophysiological trait confirms several previously detected associations |
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| Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome |
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| Population genetics of familial Mediterranean fever: a review |
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| Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients |
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| Tag SNP selection for candidate gene association studies using HapMap and gene resequencing data |
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| Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review |
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| A comprehensive screen for SNP associations on chromosome region 5q31–33 in Swedish/Norwegian celiac disease families |
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| How can genetic tests be evaluated for clinical use? Experience of the UK Genetic Testing Network |
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| Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2 |
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| The MRE11/RAD50/NBS1 complex destabilization in Lynch-syndrome patients |
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| Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects |
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| No association of ERCC1 C8092A and T19007C polymorphisms to cancer risk: a meta-analysis |
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| Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations |
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| Erratum: A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p |
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| Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes |
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| ALOX5AP gene variants and risk of coronary artery disease: an angiography-based study |
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| Vascular Pathologies: Angiogenomics: towards a genetic nosology and understanding of vascular anomalies |
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| Fanconi Anemia: Fanconi anemia, breast and embryonal cancer risk revisited |
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| Differential haplotypic expression of the interleukin-18 gene |
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| A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24 |
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| Genetic influences on angina pectoris and its impact on coronary heart disease |
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| Marfan syndrome: clinical diagnosis and management |
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| The federated database – a basis for biobank-based post-genome studies, integrating phenome and genome data from 600 000 twin pairs in Europe |
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| Estimating cancer risk in HNPCC by the GRL method |
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| The clinical relevance of microsatellite alterations in head and neck squamous cell carcinoma: a critical review |
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| Support for involvement of the AHI1 locus in schizophrenia |
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| First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine |
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| Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients |
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| Estimating the odds ratios of Crohn disease for the main CARD15/NOD2 mutations using a conditional maximum likelihood method in pedigrees collected via affected family members |
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| Transgenerational response to nutrition, early life circumstances and longevity |
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| Genotypic and haplotypic associations of the DBH gene with plasma dopamine β-hydroxylase activity in African Americans |
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| Erratum: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay |
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| A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome |
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| Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experience |
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| An explanation for another familial case of Rett syndrome: maternal germline mosaicism |
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| Comment on Gellekink et al |
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| Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders |
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✓ |
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ancient European founders |
| Evidence for gene × smoking exposure interactions in a genome-wide linkage screen of asthma and bronchial hyper-responsiveness in EGEA families |
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| Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13 |
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| Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE |
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| Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling |
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| Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia |
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| Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritis |
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| Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland |
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| Population screening and cascade testing for carriers of SMA |
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| Communicating genetic information in families – a review of guidelines and position papers |
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| Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome |
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| Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity |
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| TNF Polymorphism and Cardiovascular Disease: TNF gene polymorphism and quantitative traits related to cardiovascular disease: getting to the heart of the matter |
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| Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families |
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| Meta-analysis of genome-wide linkage studies for multiple sclerosis, using an extended GSMA method |
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| Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation |
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| Linkage to chromosome 11p12 in two Maltese families with a highly penetrant form of osteoporosis |
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✓ |
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Maltese |
| The use of grid computing to drive data-intensive genetic research |
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| Joubert syndrome (and related disorders) (OMIM 213300) |
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| Phenotype selection for detecting variable genes: a survey of cardiovascular quantitative traits and TNF locus polymorphism |
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| Insights into modern disease from our distant evolutionary past |
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| A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia |
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| Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations |
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✓ |
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a common European framework |
| A legal framework for biobanking: the German experience |
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| Does apolipoprotein E determine outcome of infection by varicella zoster virus and by Epstein Barr virus? |
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| Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels |
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| Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion |
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| Comment on ‘Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease’ |
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| Hidden African Ancestors: Hidden secrets of your ancestors |
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| Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females |
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| Reply to Inácio et al |
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| Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review |
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| Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3–Xq12 |
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| Genetic component of identification, intensity and pleasantness of odours: a Finnish family study |
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| De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations |
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| Legal pathways for cross-border research: building a legal platform for biomedical academia |
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| The X chromosome Alu insertions as a tool for human population genetics: data from European and African human groups |
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✓ |
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✓ |
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European human groups; African human groups |
| Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians |
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| A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations |
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| Three-dimensional face shape in Fabry disease |
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| Erratum: AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia |
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| Distribution of the D15Z1 copy number polymorphism |
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| Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia |
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| Concern, pressure and lack of knowledge affect choice of not wanting to know high-risk status |
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| A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation |
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| Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome |
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| CHARGE syndrome: an update |
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| Angiotensinogen M235T polymorphism and the risk of myocardial infarction and stroke among hypertensive patients on ACE-inhibitors or β-blockers |
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| Genotype–phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the ‘association des Cytogénéticiens de langue F |
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| Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism |
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| Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample |
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| Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature |
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| Dopamine transporter, gender, and number of sexual partners among young adults |
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| Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group |
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| Haplotypes in the human Foxo1a and Foxo3a genes; impact on disease and mortality at old age |
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| Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy |
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✓ |
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Africans, English |
| TCF7L2 polymorphisms are associated with type 2 diabetes in northern Sweden |
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| The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation |
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| Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome |
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| FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias |
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| ‘Distorted’ mitochondrial DNA sequences in schizophrenic patients |
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| Reply to Bandelt et al |
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| Most pooling variation in array-based DNA pooling is attributable to array error rather than pool construction error |
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| Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau |
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| Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations |
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| Linkage and association analysis of CACNG3 in childhood absence epilepsy |
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| Erratum: Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? |
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| Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus |
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| Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer |
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| Progranulin mutations in Dutch familial frontotemporal lobar degeneration |
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✓ |
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Dutch |
| Methylation analysis of the intergenic differentially methylated region of DLK1-GTL2 in human |
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| Multiple mutations responsible for frequent genetic diseases in isolated populations |
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| Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease |
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| A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1 |
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| FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG) |
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| Significant variation in haplotype block structure but conservation in tagSNP patterns among global populations |
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