| Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome |
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| Recommendations for locus-specific databases and their curation |
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| An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1 |
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| A new cover and new challenges forHuman Mutation |
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| Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart |
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| Molecular analysis ofSUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency |
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| Pathogenic validation of unique germline intronic variants ofRB1 in retinoblastoma patients using minigenes |
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| Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker |
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| Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II |
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| Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs) |
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| Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factors |
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| Missense mutations in theTGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes |
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| AVPR1A andOXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans |
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| Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans |
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| An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss |
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| Genetic subtyping of Fanconi anemia by comprehensive mutation screening |
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| GPCR NaVa database: natural variants in human G protein-coupled receptors |
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| A variant of the Cockayne syndrome B geneERCC6 confers risk of lung cancer |
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| Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) gene |
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| Association of IL4R gene polymorphisms with asthma in Chinese populations |
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| Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients |
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| Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A |
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| Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE) |
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| Lysinuric protein intolerance: update and extended mutation analysis of theSLC7A7 gene |
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| Characterization of the interactions of human ZIC3 mutants with GLI3 |
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| The novel humanSHOX allelic variant database |
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| A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases |
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| Future challenges for human mutation research |
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| Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) Syndrome |
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| Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency |
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| MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly |
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| Double complex mutations involving<i>F8</i>and<i>FUNDC2</i>caused by distinct break-induced replication |
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| Contribution of<i>BRCA1</i>and<i>BRCA2</i>mutations to inherited ovarian cancer |
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| Sequence variation database for the Wilson disease copper transporter,ATP7B |
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| A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype |
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| Rapid identification of disease-causing mutations using copy number analysis within linkage intervals |
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| The UK National Cancer Research Institute (NCRI) Informatics Initiative: promoting partnership in cancer research |
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| Closely linked<i>cis</i>‐acting modifier of expansion of the CGG repeat in high risk<i>FMR1</i>haplotypes |
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| Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio |
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| Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia |
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| Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 gene |
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| The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193FBN1 mutations |
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| Chasing genes for mood disorders and schizophrenia in genetically isolated populations |
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| Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization |
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| Lack ofSSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association? |
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| Association ofSSH1 mutations with disseminated superficial actinic porokeratosis in Chinese pedigrees (response to Frank et al.) |
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✓ |
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Chinese |
| Multigene deletions on chromosome 20q13.13-q13.2 includingSALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay |
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| Genetic variant in theHSPB1 promoter region impairs the HSP27 stress response |
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| Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff |
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| Functional polymorphisms and haplotypes in the promoter of the<i>MMP2</i>gene are associated with risk of nasopharyngeal carcinoma |
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| Spectrum of<i>ALMS1</i>variants and evaluation of genotype-phenotype correlations in Alström syndrome |
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| Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes |
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| p.Gln200Glu, a putative constitutively active mutant of rod α-transducin (GNAT1) in autosomal dominant congenital stationary night blindness |
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| Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) |
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| Identification of novel<i>ATP7B</i>gene mutations and their functional roles in Korean patients with Wilson disease |
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| Human Mutation bids farewell to co-editor Haig H. Kazazian, Jr. |
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| Haig H. Kazazian, Jr.: a fifteen-year commitment to excellence |
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| Women heterozygous forNALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations |
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| A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region |
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| A novel deletion in theFTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site |
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| Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease |
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| Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system |
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| Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome |
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| Molecular heterogeneity in fetal forms of type II lissencephaly |
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| Polyalanine expansions might not result from unequal crossing-over |
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| Novel biallelic mutations inMSH6 andPMS2 genes: gene conversion as a likely cause ofPMS2 gene inactivation |
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| Centrosomal-ciliary geneCEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis |
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| Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation |
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| SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling |
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| Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of<i>XLMR</i>genes |
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| Mutational spectrum of<i>MYO15A</i>: the large N-terminal extension of myosin XVA is required for hearing |
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| Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database |
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| Cancer-associated missplicing of exon 4 influences the subnuclear distribution of the DNA replication factor CIZ1 |
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| A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory |
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| Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene,TMEM114, expressed in the lens and disrupted by the transloca |
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| Subtelomeric imbalances in phenotypically normal individuals |
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| Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene |
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| Somatic<i>APC</i>mosaicism: a frequent cause of familial adenomatous polyposis (FAP) |
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| Variants of the<i>ST6GALNAC2</i>promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy |
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| Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation |
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| Increased progerin expression associated with unusual<i>LMNA</i>mutations causes severe progeroid syndromes |
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| Novel Plexor™ SNP genotyping technology: comparisons with TaqMan® and homogenous MassEXTEND™ MALDI-TOF mass spectrometry |
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| Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency |
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| Mutational analysis of 105 mucopolysaccharidosis type VI patients |
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| Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application |
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| Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring |
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| ThePAH gene, phenylketonuria, and a paradigm shift |
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| Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding |
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| Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms |
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| Novel mutations in theZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy |
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| Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome |
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| Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis |
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| Functional profiling of uncommon<i>VCAM1</i>promoter polymorphisms prevalent in African American populations |
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✓ |
|
African American populations |
| Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature |
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| Mutations and polymorphisms in the human N-acetylglutamate synthase (<i>NAGS</i>) gene |
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| Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism |
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| Progranulin null mutations in both sporadic and familial frontotemporal dementia |
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| Double de novo mutations ofELA2 in cyclic and severe congenital neutropenia |
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| Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking |
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| Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients |
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| Identification and characterization of a novel RPGR isoform in human retina |
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| Novel mutations in FRMD7 in X-linked congenital nystagmus |
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| Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease |
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| The novel p.L1649Q mutation in the<i>SCN1A</i>epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies |
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| Mutational analysis of the<i>HGSNAT</i>gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome) |
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| Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis |
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| Spectrum of<i>MKS1</i>and<i>MKS3</i>mutations in Meckel syndrome: a genotype-phenotype correlation |
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| Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians |
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✓ |
|
Asian Indians |
| Novel<i>SLC4A11</i>mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2) |
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| Mutational analysis of<i>CACNA1G</i>in idiopathic generalized epilepsy |
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| Screening for the<i>BRCA1-ins6kbEx13</i>mutation: potential for misdiagnosis |
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| Effective detection of corrected dystrophin loci in<i>mdx</i>mouse myogenic precursors |
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| Syndrome-causing mutations of the<i>BLM</i>gene in persons in the Bloom's Syndrome Registry |
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| Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation |
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| Involvement ofDFNB59 mutations in autosomal recessive nonsyndromic hearing impairment |
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| Heterozygous nonsense mutationSATB2 associated with cleft palate, osteoporosis, and cognitive defects |
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| Pathogenic mutations in Parkinson disease |
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| PKDB: Polycystic Kidney Disease Mutation Database-a gene variant database for autosomal dominant polycystic kidney disease |
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| Interpreting missense variants: comparing computational methods in human disease genes<i>CDKN2A</i>,<i>MLH1</i>,<i>MSH2</i>,<i>MECP2</i>, and tyrosinase (<i>TYR</i>) |
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| Promoter polymorphisms in the<i>MATP</i>(<i>SLC45A2</i>) gene are associated with normal human skin color variation |
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| The 2006 Human Genome Variation Society scientific meeting |
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| Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus |
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| A new variant database for mismatch repair genes associated with Lynch syndrome |
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| Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause |
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| Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia |
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| Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype |
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| Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity |
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| PhenCode: connecting ENCODE data with mutations and phenotype |
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| Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel<i>ASL</i>pseudogene |
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| RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family |
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| Impact of mutant p53 functional properties on<i>TP53</i>mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database |
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| Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients |
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| Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption |
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| Highly sensitive DNA detection and point mutation identification: an electrochemical approach based on the combined use of ligase and reverse molecular beacon |
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| Progress in understanding the biology of the human mutagen LINE-1 |
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| Elucidation of penetrance variability of a<i>ZIC3</i>mutation in a family with complex heart defects and functional analysis of<i>ZIC3</i>mutations in the first zinc finger domain |
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| Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants |
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| Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations |
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| Truncating mutation of the<i>DFNB59</i>gene causes cochlear hearing impairment and central vestibular dysfunction |
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| Genetic variants in<i>MGMT</i>and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis |
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|
✓ |
|
Southeastern Chinese |
| Partial duplication at<i>AZFc</i>on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan |
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✓ |
|
Han Chinese |
| Impact of the<i>Alcohol-Dehydrogenase</i>(<i>ADH</i>)<i>1C</i>and<i>ADH1B</i>polymorphisms on drinking behavior in nonalcoholic Japanese |
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✓ |
|
Japanese |
| Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis |
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| Classification of missense variants of unknown significance in<i>BRCA1</i>based on clinical and tumor information |
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| Comprehensive evaluation of allele frequency differences of<i>MC1R</i>variants across populations |
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| Extensive gene conversion at the<i>PMS2</i>DNA mismatch repair locus |
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| Patterns of variation in DNA segments upstream of transcription start sites |
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| Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis |
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| Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 |
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| Mutations of the<i>RDX</i>gene cause nonsyndromic hearing loss at the<i>DFNB24</i>locus |
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| Deletion of exon 16 of the dystrophin gene is not associated with disease |
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| CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci |
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| Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany |
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| GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling |
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| A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients |
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| Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations |
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| HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update |
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| MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified |
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| Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium |
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| Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome |
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| Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies |
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| Identification of seven novel germline mutations in the human E-cadherin (CDH1) Gene |
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| Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region |
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| Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood |
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| Quantitated transcript haplotypes (QTH) of<i>AGTR1</i>, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits |
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| Case-control genetic association study of fibulin-6 (<i>FBLN6</i>or<i>HMCN1</i>) variants in age-related macular degeneration (AMD) |
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| Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype |
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| <i>RPGR</i>mutation analysis and disease: an update |
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| Truncation ofNHEJ1 in a patient with polymicrogyria |
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| ZFHX1B mutations in patients with Mowat-Wilson syndrome |
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| Italian Rett database and biobank |
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| Identification and computationally-based structural interpretation of naturally occurring variants of human protein C |
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| A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element |
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| Response to: getting rid of thePMS2 pseudogenes: mission impossible? |
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| Getting rid of thePMS2 pseudogenes: mission impossible? |
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| Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry |
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| Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia |
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| Genotype–phenotype correlations in hereditary familial retinoblastoma |
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| Schimke immunoosseous dysplasia: suggestions of genetic diversity |
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| Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays |
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| The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models |
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| Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans |
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| Deletion of the<i>parkin</i>and<i>PACRG</i>gene promoter in early-onset parkinsonism |
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| Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion |
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| Prevalence and functionality of paucimorphic and private<i>MC4R</i>mutations in a large, unselected European British population, scanned by meltMADGE |
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✓ |
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European British population |
| Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome |
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| Transgenic mice carrying theH258N mutation in the gene encoding the β-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness |
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| Detection of ultrarare somatic mutation in the human<i>TP53</i>gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification |
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| Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene |
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| Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy |
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| Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing |
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| Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation |
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| Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma |
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| Mutational spectrum of the<i>NF2</i>gene: a meta-analysis of 12 years of research and diagnostic laboratory findings |
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| The Italian XLMR bank: a clinical and molecular database |
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| Somatic microindels: analysis in mouse soma and comparison with the human germline |
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| Mutations in the<i>C7orf11</i>(<i>TTDN1</i>) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships |
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| A common variant located in the 3′UTR of theRET gene is associated with protection from Hirschsprung disease |
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| Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A |
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| Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism |
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| Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons |
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| Genotype-phenotype correlations in von Hippel-Lindau disease |
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| Weak definition of<i>IKBKAP</i>exon 20 leads to aberrant splicing in familial dysautonomia |
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| Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms |
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