| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes |
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| Complete mitochondrial DNA sequences provide new insights into the Polynesian motif and the peopling of Madagascar |
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| A gene-based method for detecting gene–gene co-association in a case–control association study |
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| De Barsy syndrome and ATP6V0A2-CDG |
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| Reply to Leao-Teles et al |
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| What you always wanted to know about Huntington's disease |
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| The genomic era and the new frontiers of medicine |
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| Enhancer elements upstream of the SHOX gene are active in the developing limb |
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| Non-invasive prenatal testing: ethical issues explored |
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| Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing |
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| Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project |
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| Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease |
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| New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination? |
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| Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami |
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| Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment |
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| A data-driven weighting scheme for family-based genome-wide association studies |
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| Systematic genotype–phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism |
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| Evaluation of the discriminative accuracy of genomic profiling in the prediction of common complex diseases |
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| Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis |
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| The (CAG)n tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls |
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| Erratum: CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis |
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| Erratum: Caveolinopathies: from the biology of caveolin-3 to human diseases |
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| Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy |
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| Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures |
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| Hereditary haemorrhagic telangiectasia and genetic thrombophilia |
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| Reply to Bianca et al |
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| Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome |
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| Hereditary haemorrhagic telangiectasia: From symptomatic management to pathogenesis based treatment |
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| Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a |
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✓ |
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European |
| A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis |
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| High-throughput sequencing of microdissected chromosomal regions |
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| Genetic variants in human CLOCK associate with total energy intake and cytokine sleep factors in overweight subjects (GOLDN population) |
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| Coffin–Lowry syndrome |
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| Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families |
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| Ethical implications of the use of whole genome methods in medical research |
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| Reply to Fernández-Fernández |
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| Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei |
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| Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease |
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| Menkes disease |
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| Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects |
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| JEAN B DAUSSET, 19 OCTOBER 1916–6 JUNE 2009 |
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| Erratum: Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome |
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| The difficulty to classify complex dysmorphic syndromes on the ward |
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| Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition |
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| Long time no see: the Type and Contre-type concept |
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| A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion |
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| European admixture on the Micronesian island of Kosrae: lessons from complete genetic information |
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✓ |
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|
European admixture |
| Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth |
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| Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 |
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| Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes |
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| Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 |
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| Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis |
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| Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects |
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✓ |
|
French-Canadian subjects |
| Polymorphisms in TLR4 and TLR2 genes, cytokine production and survival in rural Ghana |
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| Genomic landscape of positive natural selection in Northern European populations |
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✓ |
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Northern European populations |
| Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach |
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| Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation |
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| Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis |
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| The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations |
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| Large-scale parent–child comparison confirms a strong paternal influence on telomere length |
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| Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset |
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| Comparison of participant information and informed consent forms of five European studies in genetic isolated populations |
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✓ |
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European studies |
| Sporadic cases are the norm for complex disease |
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| Prader–Willi and Angelman syndromes: genetic counseling |
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| Understanding sickle cell carrier status identified through newborn screening: a qualitative study |
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| Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis |
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| The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype |
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| Reply to Camprubí et al |
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| High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? |
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| Study of smell and reproductive organs in a mouse model for CHARGE syndrome |
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| Progress in therapeutic antisense applications for neuromuscular disorders |
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| A powerful genome-wide feasible approach to detect parent-of-origin effects in studies of quantitative traits |
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| Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations |
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|
✓ |
|
sub-Saharan; Middle Eastern |
| Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects |
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| Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to famili |
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|
| Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease |
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| Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level |
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| Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study |
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|
| Erratum: 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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| Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X) |
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| The CFTR frameshift mutation 3905insT and its effect at transcript and protein level |
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| Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder |
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| An integrated phenomic approach to multivariate allelic association |
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| Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis |
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| Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings |
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| Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses |
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| A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5 |
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| Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease |
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| Erratum: Direct to consumer genetic tests |
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| Association of the TGF-β receptor genes with abdominal aortic aneurysm |
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| Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers |
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| The candidate gene approach in asthma: what happens with the neighbours? |
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| Reply to Reijmerink et al |
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|
| Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients |
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| Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals |
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| The common biological basis for common complex diseases: evidence from lipoprotein lipase gene |
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| Septo-optic dysplasia |
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| Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis |
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|
| Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex |
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| Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature |
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| APOC3 deficiency: from mice to man |
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| SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR |
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| DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3 |
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| In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome |
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|
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| Support for the involvement of complement factor I in age-related macular degeneration |
|
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| The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family |
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|
|
| Caveolinopathies: from the biology of caveolin-3 to human diseases |
|
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|
|
| Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany |
|
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|
|
| Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island |
|
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|
European ancestry |
| Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects |
|
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|
| Gene and pathway-based second-wave analysis of genome-wide association studies |
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| Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men |
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|
| A comprehensive approach to haplotype-specific analysis by penalized likelihood |
|
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|
|
| On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors |
|
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|
| HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing |
|
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|
| Triple X syndrome: a review of the literature |
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|
| Council of Europe adopts protocol on genetic testing for health purposes |
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|
| An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient |
|
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|
|
| CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis |
|
|
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|
|
| Beckwith–Wiedemann syndrome |
|
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|
|
| Comparing population structure as inferred from genealogical versus genetic information |
|
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|
|
| On the origin of Y-chromosome haplogroup N1b |
|
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|
|
| Reply to B Malyarchuk and M Derenko: a need for further investigation of Uralic and Siberian populations in the search for haplogroup N1b's origins |
|
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|
|
| Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study |
|
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|
|
| Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia |
|
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|
|
| A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR) |
|
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|
| Cell proliferation-related genetic polymorphisms and gastric cancer risk: systematic review and meta-analysis |
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| Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations |
|
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|
| Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells |
|
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|
|
| A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma |
|
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|
| Phenotypes and genotypes of insulin-like growth factor 1, IGF-binding protein-3 and cancer risk: evidence from 96 studies |
|
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|
|
| Recovering unused information in genome-wide association studies: the benefit of analyzing SNPs out of Hardy–Weinberg equilibrium |
|
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|
|
| Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results |
|
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|
| A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of −308 TNF polymorphism function using a novel integrated reporter system |
|
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|
|
| WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome |
|
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|
|
| Expression of SNURF–SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis |
|
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|
| Novel SOX2 partner-factor domain mutation in a four-generation family |
|
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|
| Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study |
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|
|
| DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm |
|
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|
|
| A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients |
|
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|
|
| Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart |
|
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|
| A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk |
|
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|
|
| Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome |
|
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|
|
| Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice |
|
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|
|
| Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome |
|
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|
|
| Angelman syndrome (AS, MIM 105830) |
|
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|
|
| Erratum: Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe |
|
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|
|
| A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements |
|
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|
|
| A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first |
|
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|
|
| Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA |
|
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|
|
| Phosphodiesterase 4D and 5-lipoxygenase activating protein genes and risk of ischemic stroke in Sardinians |
|
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|
|
| Isolated populations as treasure troves in genetic epidemiology: the case of the Basques |
|
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|
| Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix? |
|
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|
|
| Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism |
|
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|
|
| Autosomal recessive cutis laxa syndrome revisited |
|
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|
| The role of mitochondrial genome in essential hypertension in a Chinese Han population |
|
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|
| Direct to consumer genetic tests |
|
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|
| Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection |
|
|
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|
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|
|
| Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study |
|
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|
|
| Erratum: 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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|
|
| Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families |
|
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|
| BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects |
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|
| Human longevity and 11p15.5: a study in 1321 centenarians |
|
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|
| Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child |
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| A heterozygote–homozygote test of Hardy–Weinberg equilibrium |
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| J1-M267 Y lineage marks climate-driven pre-historical human displacements |
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| Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk |
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| Genetic markers and population history: Finland revisited |
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| Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes |
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| Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia |
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| SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions |
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| Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15− Crohn's disease patients |
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| The FAS ligand promoter polymorphism, rs763110 (−844C>T), contributes to cancer susceptibility: evidence from 19 case–control studies |
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| Hereditary haemorrhagic telangiectasia: a clinical and scientific review |
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| Evidence for association with hepatocellular carcinoma at the PAPSS1 locus on chromosome 4q25 in a family-based study |
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| The maternal aborigine colonization of La Palma (Canary Islands) |
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| Reply to Happle |
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| Angioma serpiginosum is not caused by PORCN mutations |
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| Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke |
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| Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information |
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| Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome |
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| Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies |
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| 16p subtelomeric duplication: a clinically recognizable syndrome |
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| The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy |
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| Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene |
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| The interaction index, a novel information-theoretic metric for prioritizing interacting genetic variations and environmental factors |
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| Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor |
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| Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing |
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| Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism |
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| Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations |
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| Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis |
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| Assessment of transmission distortion on chromosome 6p in healthy individuals using tagSNPs |
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| EuroGentest patient information leaflets: a free resource available in over 20 languages |
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| Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today |
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| Y-Chromosome distribution within the geo-linguistic landscape of northwestern Russia |
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| Personal genomics services: whose genomes? |
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| Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews |
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✓ |
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Caucasus Jews |
| Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? |
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| Multilocus analysis of age-related macular degeneration |
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| Three independent mutations in the TSC2 gene in a family with tuberous sclerosis |
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| Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis |
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| Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics |
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| Charcot–Marie–Tooth disease |
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| From genotypes to genometypes: putting the genome back in genome-wide association studies |
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| Using biological networks to search for interacting loci in genome-wide association studies |
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| Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap |
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| Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog |
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| Genetic testing in asymptomatic minors |
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| A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency |
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| Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2 |
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| Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility |
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| Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers |
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| Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation? |
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| Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain |
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| Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension |
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✓ |
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Chinese patients |
| Predicting human height by Victorian and genomic methods |
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| Joint analysis of tightly linked SNPs in screening step of genome-wide association studies leads to increased power |
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| 4q32–q35 and 6q16–q22 are valuable candidate regions for split hand/foot malformation |
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| Erratum: Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia |
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| Erratum: 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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| Two British women studies replicated the association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) and BMI |
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| Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study |
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| A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness |
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| Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4) |
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| Increased expression of the Hutchinson–Gilford progeria syndrome truncated lamin A transcript during cell aging |
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| Dystrophia myotonia: why focus on foci? |
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| Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect |
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| An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement |
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| The complex interaction between APOE promoter and AD: an Italian case–control study |
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| Chromosome 13q13–q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype |
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| Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development |
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| MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer |
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| Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe |
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| IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients |
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| Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population |
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✓ |
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Dutch population |
| An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19 |
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| Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome |
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| Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations |
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| Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis |
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| Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses |
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| An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population |
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✓ |
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European population |
| Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome) |
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| Rational diagnostic strategy for Zellweger syndrome spectrum patients |
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| Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping |
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| Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations |
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| MYO9B polymorphisms in multiple sclerosis |
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| Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap–CEU populations |
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