| Human Gene Mutations |
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| Back mutation can produce phenotype reversion in Bloom syndrome somatic cells |
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| Connexin 26 ( GJB2 ) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians |
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| Recombination in the pseudoautosomal region in a 47,XYY male |
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| The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome |
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| Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate |
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| Critique of “Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension” by Rutherford et al., Human Genetics, published online September 2001 |
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| Cytogenetic mapping of a novel locus for type II Waardenburg syndrome |
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| Authors response to: Critique of "Chromosome 17 and inducible nitric oxide synthase gene in human essential hypertension" by Rutherford et al. in Human Genetics published on-line September 2001 |
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| Acknowledgement to Referees 2001 |
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| A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria |
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| Transmission ratio distortion in offspring of heterozygous female carriers of Robertsonian translocations |
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| Characterization of new mutations in the coding sequence and 5'-untranslated region of the human prostacyclin synthase gene ( CYP8A1) |
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| Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction |
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| Polymorphism in promoter region of Fcα receptor gene in patients with IgA nephropathy |
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| A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH) |
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| A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants |
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| A method for sex assignment in mixed samples |
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| Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India |
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| Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR ( ABCA4 ) |
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| Characterisation of novel point mutations in the survival motor neuron gene SMN , in three patients with SMA |
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| Mutation analysis of the origin recognition complex subunit 5 ( ORC5L ) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22 |
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| Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis |
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| TheTNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease |
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| Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR |
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| Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation |
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| Interaction between the melanocortin-1 receptor andP genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population |
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| "Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype |
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| Frequency of replication/transcription errors in (A)/(T) runs of human genes |
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| Glutamine repeats and neurodegenerative diseases: molecular aspects |
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| A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease |
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| The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers |
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| Ulrich R. Hengge, Beatrix Volc-Platzer (eds): The skin and gene therapy |
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| Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q |
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| Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm |
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| Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia |
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| Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome |
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European patients |
| Lack of association between α2-macroglobulin polymorphisms and Alzheimer's disease |
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| Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains |
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| CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease |
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| Complex segregation analysis of Parkinson's disease in the Finnish population |
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| Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria |
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| Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes |
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| Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques |
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| The genes for the human VPS10 domain-containing receptors are large and contain many small exons |
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| Nomenclature for the description of human sequence variations |
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| The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p |
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| Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia |
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| Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene |
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| Population-based risk estimates of Wilms tumor in sporadic aniridia |
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| Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations |
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| Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer |
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| Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica |
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| A molecular approach to dominance in hypophosphatasia |
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| Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms |
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| Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits |
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| Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases |
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| Joyce C. Harper, Joy D.A. Delhanty, Alan H. Handyside (eds): Preimplantation genetic diagnosis |
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| Genetic variations in the cholesteryl ester transfer protein gene and high density lipoprotein cholesterol levels in Taiwanese Chinese |
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| Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene |
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| A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients |
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| The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility |
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| Human type I hair keratin pseudogene ? hHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence |
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| Neonatal presentation of adult-onset type II citrullinemia |
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| The missense Glu298Asp variant of the endothelial nitric oxide synthase gene is strongly associated with placental abruption |
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| TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene |
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| Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population |
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| Elite swimmers and the D allele of the ACE I/D polymorphism |
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| SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens |
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| De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss |
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| Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations |
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| Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis |
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| Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1 : molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region |
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| Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa |
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| DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations |
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| Molecular and functional characterisation of mild MCAD deficiency |
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| Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease |
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| Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA) |
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| Statistical estimation and pedigree analysis ofCCR2-CCR5 haplotypes |
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| Evidence for a prostate cancer linkage to chromosome 20 in 159 hereditary prostate cancer families |
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| Proteomics - from protein sequence to function |
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| Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers |
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| Galactosemia: deletion in the 5′ upstream region of the GALT gene reduces promoter efficiency |
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| Linkage and association to candidate regions in Swedish atopic dermatitis families |
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| Combined segregation-linkage analysis of plasma thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels with TAFI gene polymorphisms |
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| Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene |
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| Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation |
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| Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes |
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| Rate of homologous chromosome bivalents in spermatocytes may predict completion of spermatogenesis in azoospermic men |
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| Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland |
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| A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene |
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| A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes |
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| Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families |
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| Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism |
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| Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum |
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| Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia |
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| Investigation of the functional effect of monoamine oxidase polymorphisms in human brain |
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| The USH1C 216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population |
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| Effectiveness of computational methods in haplotype prediction |
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| Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism |
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| The human olfactory subgenome: from sequence to structure and evolution |
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| AFLP fingerprinting of the human genome |
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| Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America |
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| Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome |
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| Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization |
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| Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases |
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| Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 but not intron 7 |
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| Quantitation of fetal DNA in maternal serum in normal and aneuploid pregnancies |
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| Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease |
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| Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories |
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| A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women |
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| Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes |
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| Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin |
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Ashkenazi Jewish origin |
| Hearing impairment in patients with 3243A→G mtDNA mutation: phenotype and rate of progression |
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| Linkage of prostate cancer susceptibility loci to chromosome 1 |
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| Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counsel |
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| Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis |
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| Improved definition of chromosomal breakpoints using high-resolution multicolour banding |
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| Refinement of the chromosome 5p locus for craniometaphyseal dysplasia |
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| Nigel M. Hooper (editor): Alzheimer’s disease. Methods and protocols |
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| Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region |
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| Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients |
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| Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene |
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| Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man |
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| A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease |
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| Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA) |
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| Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly |
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| Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families |
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| Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22 |
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| The Basques according to polymorphic Alu insertions |
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| Glycerol kinase deficiency: Evidence for complexity in a single gene disorder |
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| Chimpanzee apolipoprotein H (β2-glycoprotein I): report on the gene structure, a common polymorphism, and a high prevalence of antiphospholipid antibodies |
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| The polyglutamine motif is highly conserved at the Clock locus in various organisms and is not polymorphic in humans |
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| Large-scale molecular screening for galactosemia alleles in a pan-ethnic population |
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| A polymorphism in the promoter region of catalase is associated with blood pressure levels |
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| Genetic basis of mitochondrial HMG-CoA synthase deficiency |
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| Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B |
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| AcroM fluorescent in situ hybridization analyses of marker chromosomes |
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| Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen |
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| Analysis of the CC chemokine receptor 5 (CCR5) delta-32 polymorphism in inflammatory bowel disease |
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| Genome-wide distribution of linkage disequilibrium in the population of Palau and its implications for gene flow in Remote Oceania |
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| Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations |
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| Erratum to Back mutation can produce phenotype reversion in Bloom syndrome somatic cells |
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| Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence |
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| Genetic risk factors of venous thrombosis |
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| Correcting for multiple testing in genetic association studies: the legend lives on |
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| Extent of linkage disequilibrium between the androgen receptor gene CAG and GGC repeats in human populations: implications for prostate cancer risk |
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| Eberhard Passarge: Color Atlas of Genetics. (2nd edition, enlarged and revised) |
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| G. Scherer and M. Schmid (eds): Genes and mechanisms in vertebrate sex determination |
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| Ettore Olmo and Carlo Alberto Redi (eds): Chromosomes today, vol 13 |
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| Helmut Schenkel-Brunner: Human blood groups: chemical and biological basis of antigen, 2nd edn., Springer-Verlag, Wien New York. ISBN 3-211-83471-0. DM 198.–, US$ 99.0. Hardcover, 637 pages |
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| Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome |
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| Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A→G, 2751+2T→A, 296+1G→C, 1717–9T→C-D565G) and one nonsense mutation (E822X) in the CFTR gene |
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| Physical activity modulates the combined effect of a common variant of the lipoprotein lipase gene and smoking on serum triglyceride levels and high-density lipoprotein cholesterol in men |
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| Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH |
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| Mutation spectrum and splicing variants in the OPA1 gene |
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| Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations |
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| Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes |
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| Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP |
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| Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation |
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| Genomic structure of karyopherin ?2 ( KPNA2 ) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome |
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| Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency |
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| Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach |
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| Announcement |
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| A novel intronic mutation of the TAZ ( G4.5 ) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon |
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| The molecular basis of familial hypercholesterolemia in The Netherlands |
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| Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients |
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| Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1 ) gene |
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| Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum |
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| Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations |
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| Christopher Gillberg and Mary Coleman: The biology of the autistic syndromes, 3rd edn |
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| Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication |
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| Muscular Dystrophy: methods and protocols |
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| Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group |
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| Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene |
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| Respiratory distress syndrome: evaluation of genetic susceptibility and protection by transmission disequilibrium test |
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| Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease |
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| DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements |
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| Announcement |
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| Are we hardwired? The role of genes in human behaviour |
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| Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene |
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| Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution |
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| A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22 |
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| Association between nasal allergy and a coding variant of the Fc ε RI β gene Glu237Gly in a Japanese population |
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| Polymorphism in the alpha1-antichymotrypsin (ACT) gene promoter: effect on expression in transfected glial and liver cell lines and plasma ACT concentrations |
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| Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders |
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| Genetic case-control association studies - correcting for multiple testing |
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| Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension |
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| TGFβ1 allele association with asthma severity |
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| Krystyne E. Wisniewski and Nanbert Zhong (eds): Batten disease: diagnosis, treatment and research. (Advances in Genetics, vol 45) |
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| A genome-wide survey of human thioredoxin and glutaredoxin family pseudogenes |
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| Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity |
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| Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations |
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| Linkage of body mass index to chromosome 20 in Utah pedigrees |
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| A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect |
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| Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome |
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| A new strategy for the detection of subtelomeric rearrangements |
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| Suomi-Neidon Geenit (The Genes of Maiden Finland) |
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| Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? |
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| Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population |
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✓ |
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Japanese population |
| The HUGO Gene Nomenclature Committee (HGNC) |
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| ASP – a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs |
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| Genetics and public health in the 21st century |
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| Insulator: from chromatin domain boundary to gene regulation |
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| Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease |
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| The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family |
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| Karen Steinberg: The Genetic Basis of Cancer [CD Rom] |
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| Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia |
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| Genomic structures and population histories of linguistically distinct tribal groups of India |
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| Genetic predisposition to ventricular septal defect in Down syndrome |
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