| Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children |
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| Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA |
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| Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma |
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| Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome |
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| Correction |
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| Investigation of somatic NKX2-5 mutations in congenital heart disease |
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| Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy |
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| Correction |
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| NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein |
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| Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 |
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| Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation |
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| Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes |
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| Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1) |
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| Corrections |
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| No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes |
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| Corrections |
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| Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes |
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| Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange |
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| The molecular landscape of ASPM mutations in primary microcephaly |
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| Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss |
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| Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and imp |
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| Inherited mitochondrial optic neuropathies |
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| In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G->A mutations in introns of the dystrophin gene |
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| Risk reducing mastectomy: outcomes in 10 European centres |
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| Clinical and genetic delineation of neurodegeneration with brain iron accumulation |
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| Clinical and molecular progress in hereditary paraganglioma |
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| Correction |
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| Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15 |
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| Ring syndrome: still true? |
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| Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutaion carriers |
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| Intergenerational CAG repeat instability is highly heritable in Huntington's disease |
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| Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA |
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| Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial |
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| Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas |
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| Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations |
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| Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients |
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| Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis |
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| Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number |
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| Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model |
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| A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis |
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| Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene |
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| Is genetics inhumane? |
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| 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? |
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| 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits |
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| Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome |
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| Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease |
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| Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy |
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| Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders |
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| Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation |
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| Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC) |
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| Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease |
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| Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women |
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| Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background |
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✓ |
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European carriers |
| Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma |
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| GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations |
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| Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita |
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| Correction |
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| Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytes |
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| Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients |
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| Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations |
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| Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist |
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| Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese |
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| High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease |
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| A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia |
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✓ |
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Finnish population |
| A PCSK9 variant and familial combined hyperlipidaemia |
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| Reversible phenotype in a mouse model of Hutchinson-Gilford progeria syndrome |
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| Polymorphisms in the C-type lectin genes cluster in chromosome 19 and predisposition to severe acute respiratory syndrome coronavirus (SARS-CoV) infection |
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| The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of -thalassaemia |
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| Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia |
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| DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients |
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| The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome |
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| Congenital heart disease is a feature of severe infantile spinal muscular atrophy |
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| Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome |
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| Clinical and molecular delineation of the 17q21.31 microdeletion syndrome |
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| Mapping of 5q35 chromosomal rearrangements within a genomically unstable region |
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| Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation |
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| Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients |
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| The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients |
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| Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia |
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| Pseudomitochondrial genome haunts disease studies |
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| Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene |
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| ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing |
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| Heart-hand syndrome of Slovenian type: a new kind of laminopathy |
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✓ |
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Slovenian |
| Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations |
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| Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients |
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| Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm |
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| Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy |
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| Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan |
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| Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant |
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| Clinical and molecular aspects of RAS related disorders |
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| New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome |
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| Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study |
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|
Dutch isolate |
| Bitter taste receptor gene polymorphisms are an important factor in the development of nicotine dependence in African Americans |
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✓ |
|
African Americans |
| Complex and segmental uniparental disomy updated |
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| Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism |
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| Heme oxygenase 1 variations and lung function decline in smokers: proof of replication |
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| Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? |
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| A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site |
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| Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families |
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| Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome |
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| Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders |
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| Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population |
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| High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent |
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| Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation |
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| Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders |
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| Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach |
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| Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers |
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| Double outlet right ventricle: aetiologies and associations |
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| We need a detailed phenome in the phenomenon of genetics and congenital heart disease |
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| Identification of a 2244 base pair interstitial deletion within the human ESR1 gene in the Spanish population |
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✓ |
|
Spanish population |
| Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22 |
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| Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene |
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| Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics |
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| X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits |
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| The fragile X prevalence paradox |
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| Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies |
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| Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes |
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| Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype |
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| Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers |
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| Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer |
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| Disruption of contactin 4 in three subjects with autism spectrum disorder |
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| Heterogeneity in the processing defect of SLC26A4 mutants |
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| A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations |
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| Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands |
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| Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study |
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| Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis |
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| Identification of a novel PEX14 mutation in Zellweger syndrome |
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| A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family |
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| High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis |
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| The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms |
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| Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations |
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| BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports |
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| CYLD mutations in familial skin appendage tumours |
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| Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome |
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| Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery |
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| Recent advances in the molecular pathology, cell biology and genetics of ciliopathies |
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| Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform |
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| Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis |
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| A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome |
|
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| Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: significant evidence for linkage at chromosome 14q24.3 |
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| CDKN2A mutations and melanoma risk in the Icelandic population |
|
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| A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome |
|
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| Comparison of X-chromosome inactivation patterns in multiple tissues from human females |
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