| Patenting and licensing in genetic testing |
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| Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11) |
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| A large-scale mutation search reveals genetic heterogeneity in 3M syndrome |
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| Treacher Collins syndrome: etiology, pathogenesis and prevention |
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| A targeted population carrier screening program for severe and frequent genetic diseases in Israel |
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| Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15 |
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| Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe |
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| Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome |
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| Genomics and breast cancer: the different levels of inherited susceptibility |
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| Significant evidence for linkage to chromosome 5q13 in a genome-wide scan for asthma in an extended pedigree resource |
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| Impact of inbreeding on fertility in a pre-industrial population |
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| Gains in power for exhaustive analyses of haplotypes using variable-sized sliding window strategy: a comparison of association-mapping strategies |
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| A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease |
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| Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients |
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| The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P |
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| Variable number of tandem repeat polymorphisms of DRD4: re-evaluation of selection hypothesis and analysis of association with schizophrenia |
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| Breast cancer susceptibility: current knowledge and implications for genetic counselling |
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| Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly |
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| A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome |
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| Nephronophthisis |
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| Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases |
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| Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? |
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| Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia |
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| Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia |
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| Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance |
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| The Etruscan timeline: a recent Anatolian connection |
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| In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy |
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| When good CF tests go bad |
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| Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories |
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| A 15q13.3 microdeletion segregating with autism |
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| Of wolves and men: the role of paternal child care in the evolution of genomic imprinting |
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| Unraveling hyperlipidemia type III (dysbetalipoproteinemia), slowly |
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| The expression of type III hyperlipoproteinemia: involvement of lipolysis genes |
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| Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss |
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| Investigation of the fine structure of European populations with applications to disease association studies |
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✓ |
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European populations |
| Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplas |
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| Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 |
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| Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation |
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| MET and autism susceptibility: family and case–control studies |
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| GENESTAT: an information portal for design and analysis of genetic association studies |
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| When linkage signal for autism MET candidate gene |
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| Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene |
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| A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects |
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| Screening for replication of genome-wide SNP associations in sporadic ALS |
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| Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population |
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| Amyotrophic Lateral Sclerosis: Genome-wide association studies in amyotrophic lateral sclerosis |
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| Kallmann syndrome |
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| Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy |
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| On Jim Watson's APOE status: genetic information is hard to hide |
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| Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction |
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| Low frequency of imprinting defects in ICSI children born small for gestational age |
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| Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss |
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| A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome |
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| Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome |
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| Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family |
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✓ |
|
Tunisian |
| Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4 |
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| A reliable cell-based assay for testing unclassified TSC2 gene variants |
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| Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis |
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| GAB2 is not associated with late-onset Alzheimer's disease in Japanese |
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| H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers |
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| Fine-mapping and candidate gene investigation within the PARK10 locus |
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| Common inversion polymorphisms and rare microdeletions at 15q13.3 |
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| Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion |
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| SNP frequency estimation using massively parallel sequencing of pooled DNA |
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| Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus |
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| Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance |
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| How to tackle the diagnosis of limb-girdle muscular dystrophy 2A |
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| Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion |
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| STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families |
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| Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease |
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| Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions |
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| Misleading behavioural phenotype with adenylosuccinate lyase deficiency |
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| Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD |
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| PTCH1 duplication in a family with microcephaly and mild developmental delay |
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| Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements |
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✓ |
|
Italian patients |
| Missense mutations to the TSC1 gene cause tuberous sclerosis complex |
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| Victor McKusick, 1921–2008: the founder of medical genetics as we know it |
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| A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications |
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| Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations |
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| Lactase persistence-related genetic variant: population substructure and health outcomes |
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| Prader–Willi syndrome |
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| Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects |
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| Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2 |
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| Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1 |
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| The E-cadherin (CDH1) −160 C/A polymorphism and prostate cancer risk: a meta-analysis |
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| Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study) |
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| An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4 |
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| Meta-analysis of genome-wide linkage studies across autoimmune diseases |
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| Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples |
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| PTEN hamartoma tumor syndromes |
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| Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004) |
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| The DLX1and DLX2 genes and susceptibility to autism spectrum disorders |
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| Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties |
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| Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate |
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| Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus |
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| Long-term outcome of presymptomatic testing in Huntington disease |
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| Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat |
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| The mutation spectrum in RECQL4 diseases |
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| Erratum: Patenting and licensing in genetic testing: Recommendations of the European Society of Human Genetics |
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| Erratum: Composite measure of linkage disequilibrium for testing interaction between unlinked loci |
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| Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3) |
|
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| A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives |
|
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| A novel missense RAG-1 mutation results in T−B−NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories |
|
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|
✓ |
|
Athabascan-speaking Dine Indians |
| Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia |
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| Variation near complement factor I is associated with risk of advanced AMD |
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| Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome |
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| Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions |
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| Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction |
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| Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations |
|
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| Problems assessing uptake of Huntington disease predictive testing and a proposed solution |
|
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| An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians |
|
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|
✓ |
|
Canadians of French origin; Quebecois; Acadians |
| Erratum: Testing replication of a 5-SNP set for general cognitive ability in six population samples |
|
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| Erratum: Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations |
|
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| Erratum: Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families |
|
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|
| Marco Fraccaro |
|
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| Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype |
|
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| Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient |
|
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| Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres |
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| LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance |
|
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| Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project |
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| Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas |
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| Deciphering the genetics of hereditary non-syndromic colorectal cancer |
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| Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations |
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| Influence of MUC1 genetic variation on prostate cancer risk and survival |
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| Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe |
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| The use of common mitochondrial variants to detect and characterise population structure in the Australian population: implications for genome-wide association studies |
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| Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands |
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| Twenty-year trends in prevalence and survival of Down syndrome |
|
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| What process attributes of clinical genetics services could maximise patient benefits? |
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| Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies |
|
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| Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection |
|
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| Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer |
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| Comprehensive association analyses of IGF1, ESR2, and CYP17 genes with adult height in Caucasians |
✓ |
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| Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels |
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| Genomic Medicine: ‘Grand challenges’ in the translation of genomics to human health |
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| Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease |
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| The copy number variant involving part of the α7 nicotinic receptor gene contains a polymorphic inversion |
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| Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program |
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| Gene–environment interactions for complex traits: definitions, methodological requirements and challenges |
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| A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features |
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| Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development |
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| Identification of human haploinsufficient genes and their genomic proximity to segmental duplications |
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| Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe |
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| Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers |
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| Chromosomes came first: First Years of Human Chromosomes. The Beginnings of Human Cytogenetics |
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| Building genetic medicine, a tale of two countries: Building Genetic Medicine |
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| Health first, genetics second: exploring families' experiences of communicating genetic information |
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| Is paternal age playing a role in the changing prevalence of Klinefelter syndrome? |
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| Reply to Herlihy and Halliday |
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| Testing replication of a 5-SNP set for general cognitive ability in six population samples |
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| An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance |
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| Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions |
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| Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives |
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| An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation |
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| Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy |
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| Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies |
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| Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype |
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| HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time |
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| Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24 |
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| A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome |
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| Hypotheses in genome-wide association scans |
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| Reply to Nothnagel et al |
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| Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development |
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| Erratum: Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness |
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| Introduction |
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| Erratum: Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach |
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| Patenting and licensing in genetic testing: ethical, legal and social issues |
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| Erratum: Linkage and association analysis of CACNG3 in childhood absence epilepsy |
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| Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research |
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| A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex |
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| The effect of pedigree structure on detection of deletions and other null alleles |
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| Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3 |
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| Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism |
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| The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population |
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✓ |
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Taiwanese population |
| Frequent mutations in the 3′-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours |
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| Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man |
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| Feedback Control: The role of negative feedback in signal transduction control |
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| A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay |
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| Fragile X syndrome |
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| Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region |
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| A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? |
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| MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression |
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| Influence of the cystathionine β-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations |
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| Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs |
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| Maternal genotype effects can alias case genotype effects in case–control studies |
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| The human pseudoautosomal regions: a review for genetic epidemiologists |
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| Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans |
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| Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase |
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| Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families |
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| Evaluation of HapMap data in six populations of European descent |
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✓ |
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European descent |
| Interleukin 18 receptor 1 gene polymorphisms are associated with asthma |
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| Population Genomics: The Public Population Project in Genomics (P3G): a proof of concept? |
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| Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning |
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| Cox proportional hazards models have more statistical power than logistic regression models in cross-sectional genetic association studies |
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| Establishment of a biobank and pharmacogenetics database of African populations |
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| Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin |
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✓ |
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Turkish origin |
| Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene |
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| Association analysis of the skin barrier gene cystatin A at the PSORS5 locus in psoriatic patients: evidence for interaction between PSORS1 and PSORS5 |
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| Conservation of 5′-upstream region of the FBN1 gene in primates |
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| Recreational genomics? Dreams and fears on genetic susceptibility screening |
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| How molecular genetics and other disciplines pushed forward understanding our past: Before the Dawn (Recovering the Lost History of Our Ancestors) |
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| Patenting and licensing in genetic testing |
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| Unaffected patients with a homozygous absence of the SMN1 gene |
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| cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark |
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| Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations |
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| Testing informative missingness in genetic studies using case–parent triads |
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| Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion |
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| ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer |
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| The Genome The genome: you gain some, you lose some |
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| In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia |
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| Quantifying the increase in average human heterozygosity due to urbanisation |
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| Genome-wide search for QTLs for apolipoprotein A-I level in elderly Swedish DZ twins: evidence of female-specific locus on 15q11–13 |
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| Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment |
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| Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1) |
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| Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease |
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| Modifier Genes and HNPCC: Variable phenotypic expression in HNPCC and the search for modifier genes |
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| Warfarin Pharmacogenomics: A big step forward for individualized medicine: enlightened dosing of warfarin |
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| An approach for cutting large and complex pedigrees for linkage analysis |
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| Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC |
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| No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients |
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| Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis |
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| p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? |
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| Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias |
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| Erratum: Process and outcome in communication of genetic information within families: a systematic review |
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| It's in a chart! |
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| Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management |
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| The success of the genome-wide association approach: a brief story of a long struggle |
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| Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach |
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| IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk |
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| Memories from our genes: Genes, Culture, and Human Evolution: A Synthesis |
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| A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. |
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| XPC polymorphisms play a role in tissue-specific carcinogenesis: a meta-analysis |
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| Revised spectrum of mutations in sarcoglycanopathies |
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| Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms |
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| Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome |
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| Uptake of testing for BRCA1/2 mutations in South East Scotland |
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| ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies |
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| Mapping of a Hirschsprung's disease locus in 3p21 |
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| Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome? |
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| How much is too much? Phenotypic consequences of Rai1 overexpression in mice |
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| Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome |
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| Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients |
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| A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3 |
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| Potential association of INSIG2 rs7566605 polymorphism with body weight in a Chinese subpopulation |
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✓ |
|
Chinese subpopulation |
| Genetic ancestry and income are associated with dengue hemorrhagic fever in a highly admixed population |
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| Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q |
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| Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area |
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| Smith–Magenis syndrome |
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| Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia |
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| Sporadic mutations in melanocortin receptor 3 in morbid obese individuals |
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| HHEX gene polymorphisms are associated with type 2 diabetes in the Dutch Breda cohort |
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| The exon 1–8C/G SNP in the PSMA6 gene contributes only a small amount to the burden of myocardial infarction in 6946 cases and 2720 controls from a United Kingdom population |
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| Familial deletion within NLGN4 associated with autism and Tourette syndrome |
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| Variable selection in logistic regression for detecting SNP–SNP interactions: the rheumatoid arthritis example |
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| 8q24 and prostate cancer: association with advanced disease and meta-analysis |
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| The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity |
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| MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment |
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| Composite measure of linkage disequilibrium for testing interaction between unlinked loci |
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| A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss |
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| Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions |
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| Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation |
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| A spatial analysis of genetic structure of human populations in China reveals distinct difference between maternal and paternal lineages |
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| The genetic architecture of fasting plasma triglyceride response to fenofibrate treatment |
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| Evaluation of coverage variation of SNP chips for genome-wide association studies |
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| Erratum: Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance |
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| All I wanted to know about congenital developmental defects |
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| Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients |
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| XLMR genes: update 2007 |
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| To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies? |
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| Imputing missing genotypic data of single-nucleotide polymorphisms using neural networks |
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| Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects |
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| Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2 |
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| Singleton SNPs in the human genome and implications for genome-wide association studies |
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| Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings |
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| Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia |
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| Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3 |
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| What is ideal genetic counselling? A survey of current international guidelines |
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| Empirical assessment of the validity of the ‘fundamental theorem of the HapMap’ in the light of ‘cryptic’ tagging of multiple susceptibility loci |
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| The Tunisian population history through the Crigler–Najjar type I syndrome |
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| Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs |
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| Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease |
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| A genome-wide scan suggests a susceptibility locus on 5p13 for nasopharyngeal carcinoma |
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| A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
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| NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? |
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| Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome |
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| Genome-wide association studies of quantitative traits with related individuals: little (power) lost but much to be gained |
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| The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate |
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| IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia |
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| Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches |
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