| The battle of replication fork |
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| Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa |
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| TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome |
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| The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen |
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| CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR |
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| Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome |
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| Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism |
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| Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair |
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| Mosaic trisomy 13: understanding origin using SNP array |
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| Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB |
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| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy |
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| 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype |
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| Genetic architecture of open angle glaucoma and related determinants |
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| CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant |
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| GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms |
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| Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome |
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| Association of the CBLB gene with multiple sclerosis: new evidence from a replication study in an Italian population |
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✓ |
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Italian population |
| Germline DICER1 mutations and familial cystic nephroma |
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| CDKN2BAS is associated with periodontitis in different European populations and is activated by bacterial infection |
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✓ |
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European populations |
| A clinical and molecular genetic study of 112 Iranian families with primary microcephaly |
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| A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy |
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| Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability |
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| A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency |
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| Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients |
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| Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population |
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| Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib |
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| Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens |
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| Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability |
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| Uptake of breast cancer prevention and screening trials |
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| Correction |
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| Corrections |
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| Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas |
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| Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing |
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| Ancestry informative markers for fine-scale individual assignment to worldwide populations |
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| Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia |
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| Cohen syndrome diagnosis using whole genome arrays |
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| Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers |
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| Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy |
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| Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design |
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| Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells |
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| Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia |
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| Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma |
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| Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy |
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| BBS10 mutations are common in 'Meckel'-type cystic kidneys |
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| Polymorphisms at 16p13 are associated with systemic lupus erythematosus in the Chinese population |
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✓ |
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Chinese population |
| A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations |
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| Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations |
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| Oesophageal squamous cell carcinoma in a young adult with IL-12R 1 deficiency |
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| STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5 |
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| FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease |
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| The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein |
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| Epigenotype-phenotype correlations in Silver-Russell syndrome |
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| Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14 |
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| The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K |
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| Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP |
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| Critical consequences of finding three pathogenic mutations in an individual with recessive disease |
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| WTX mutations can occur both early and late in the pathogenesis of Wilms tumour |
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| Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations |
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| ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism |
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| Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4 |
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| Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype |
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| Genetics for the health sciences: a handbook for clinical healthcare |
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| Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome |
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| Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene |
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| Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease |
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| Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani-Lenz-like non-syndromic oligosyndactyly |
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| MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes |
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| A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1 |
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| The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor |
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| Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects |
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| Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly |
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| Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family |
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| Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis |
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| SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations |
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| Replication of KIF21B as a susceptibility locus for multiple sclerosis |
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| Multiple cutaneous squamous cell carcinomas in a patient with interferon receptor 2 (IFN R2) deficiency |
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| The revised Ghent nosology for the Marfan syndrome |
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| Hereditary diffuse gastric cancer: lifesaving total gastrectomy for CDH1 mutation carriers |
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| Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers |
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| Correction |
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| Risk of breast cancer in male BRCA2 carriers |
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| Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome |
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| Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research |
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| Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers |
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| Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions |
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| Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia |
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| Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1 |
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| Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer |
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| Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome |
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| Novel CENPJ mutation causes Seckel syndrome |
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| LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome |
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| Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech |
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| Genetic variant in the promoter of connective tissue growth factor gene confers susceptibility to nephropathy in type 1 diabetes |
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| Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer |
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| TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes |
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| The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements |
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| Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancer |
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| Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa |
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| Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans |
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✓ |
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Israeli Muslim Arab village |
| The carrier clinic: an evaluation of a novel clinic dedicated to the follow-up of BRCA1 and BRCA2 carriers--implications for oncogenetics practice |
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| Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population |
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| Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84 |
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| SMARCB1 mutations are not a common cause of multiple meningiomas |
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| BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries |
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| Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes |
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| Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? |
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| Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations |
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| Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature |
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| A BRCA1 promoter variant (rs11655505) and breast cancer risk |
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| Epigenetic signatures of Silver-Russell syndrome |
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| A novel FTL insertion causing neuroferritinopathy |
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