| FCGR2A functional genetic variant associated with susceptibility to severe malarial anaemia in Ghanaian children |
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| Phenotype-genotype correlation in a familial IGF1R microdeletion case |
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| Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia |
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| Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals |
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| Correction |
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| Correction |
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| Correction |
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| Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis |
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| Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy |
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| Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene |
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| Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human |
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| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot |
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| Updating the profile of C-terminal MECP2 deletions in Rett syndrome |
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| Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta |
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| Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size |
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| Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile |
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| Phenotypic spectrum of MFN2 mutations in the Spanish population |
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| Mutations of FUS gene in sporadic amyotrophic lateral sclerosis |
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| An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2) |
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| Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes |
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| Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs coding mutations and GNAS imprinting defects |
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| Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C |
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| Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping |
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| Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis |
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| Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6 |
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| Disruption of ST5 is associated with mental retardation and multiple congenital anomalies |
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| A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus |
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| Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin |
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| Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations |
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| Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese |
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| Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome |
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| A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum |
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| Screening for Fabry disease in high-risk populations: a systematic review |
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| Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping |
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| A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects |
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| Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome |
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| Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay |
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| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families |
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| A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance |
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| Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders |
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| A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms |
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| Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients |
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| Heritability of metabolic syndrome traits among healthy younger adults: a population based study in China |
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| Can our understanding of epigenetics assist with primary prevention of congenital defects? |
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| Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis |
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| Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder |
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| Associations of folate and choline metabolism gene polymorphisms with orofacial clefts |
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| MECP2 mutation in one of Rett's original patients |
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| Fragile X syndrome: from molecular genetics to therapy |
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| What is paradominant inheritance? |
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| A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb del |
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| Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum |
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| Correction |
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| Correction |
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| "New microdeletion syndromes: complex, but no new paradigms" |
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| A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia |
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| Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families |
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| De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age |
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| Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia |
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| Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds |
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| Phenomic determinants of genomic variation in autism spectrum disorders |
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| Differences in SMN1 allele frequencies among ethnic groups within North America |
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| Breast cancer susceptibility variants alter risks in familial disease |
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| Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands |
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| DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis |
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| MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations |
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| Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment |
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| Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements |
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| ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy |
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| OPA1 increases the risk of normal but not high tension glaucoma |
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| Association between a polymorphism in the human programmed death-1 (PD-1) gene and cytomegalovirus infection after kidney transplantation |
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| De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin |
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| Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity |
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| Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease |
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| Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing |
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| Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome |
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| Encephalocraniocutaneous lipomatosis |
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| The unfolding clinical spectrum of POLG mutations |
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| Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain |
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| Novel FOXG1 mutations associated with the congenital variant of Rett syndrome |
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| Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes |
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| Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) |
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| Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criter |
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| Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females |
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| The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening |
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| Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer |
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| New challenges for informed consent through whole genome array testing |
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| High frequency of de novo mutations in Li-Fraumeni syndrome |
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| A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism |
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| A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis |
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| Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family |
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| Deregulation of EIF4E: a novel mechanism for autism |
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| International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia |
|
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| Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations |
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|
| Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation |
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| A common variant in the adiponutrin gene influences liver enzyme values |
|
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| TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis |
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|
|
| Association of IL18RAP and CCR3 with coeliac disease in the Spanish population |
|
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|
✓ |
|
Spanish population |
| Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome |
|
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| Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing |
|
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| Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting |
|
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| Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1 |
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| A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome |
|
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| Apoptosis and cancer: mutations within caspase genes |
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| A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium |
|
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|
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| Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) |
|
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|
|
| Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases |
|
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|
|
| 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction |
|
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| Change in stage distribution observed with annual screening for ovarian cancer in BRCA carriers |
|
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| Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb |
|
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|
| Long-range regulation at the SOX9 locus in development and disease |
|
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|
| Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey |
|
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|
|
| Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies |
|
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| High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings |
|
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| Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors |
|
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|
| Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome |
|
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|
| The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome |
|
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|
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| Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2 |
|
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|
| Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study |
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|
| Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery |
|
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|
| The effect of the MHC locus on autoantibodies in type 1 diabetes |
|
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|
| TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex |
|
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|
|
| SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype |
|
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|
|
| New surfactant protein C gene mutations associated with diffuse lung disease |
|
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|
|
| Association of chromosome 2q36.1-36.3 and autosomal dominant transmission in ankylosing spondylitis: results of genetic studies across generations of Han Chinese families |
|
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|
|
|
|
✓ |
|
Han Chinese |
| Germline mutation of microRNA-125a is associated with breast cancer |
|
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|
|
| Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations |
|
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|
|
| SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype |
|
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|
|
| Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome |
|
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|
|
| A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length |
|
|
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|
|
|
|
|
|
| Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease |
|
|
|
|
✓ |
|
✓ |
|
European; North African |
| Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function |
|
|
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|
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|
|
| A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family |
|
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|
|
| Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia) |
|
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|
|
| GPR98 mutations cause Usher syndrome type 2 in males |
|
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|
| Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control |
|
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|
|
| Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia |
|
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|
|
| Mutations in the urocanase gene UROC1 are associated with urocanic aciduria |
|
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|
|
| U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements |
|
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|
| Genetics of microtia and associated syndromes |
|
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|
| Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome |
|
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|
|
| Recessive primary congenital lymphoedema caused by a VEGFR3 mutation |
|
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|
| Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders |
|
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|
|
| Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? |
|
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|
|
| Large scale replication analysis of loci associated with lipid concentrations in a Japanese population |
|
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|
| Evaluation of a surveillance programme for women with a family history of breast cancer |
|
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|
|
|
| Replication of restless legs syndrome loci in three European populations |
|
|
|
|
✓ |
|
|
|
European populations |
| Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing |
|
|
|
|
|
|
|
|
|
| Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype |
|
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|
|
| The genetic basis of congenital hyperinsulinism |
|
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|
|
| Germline mutation in DOK7 associated with fetal akinesia deformation sequence |
|
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|
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|
|
| Premature death in adults with 22q11.2 deletion syndrome |
|
|
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|
|
|
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|
|
| A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents |
|
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|
|
| Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region |
|
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|
|
| A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension |
|
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| Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum |
|
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|
|
| Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes |
|
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|
| A pilot open label, single dose trial of fenobam in adults with fragile X syndrome |
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| 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation |
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