| Absence of the Δccr5 mutation in indigenous populations of the Brazilian Amazon |
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| SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients |
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| Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization |
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| Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM |
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| Preimplantation diagnosis of the β1 integrin knockout mutation as a model for aneuploid gene testing |
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| Genetic contribution of the BAT2 gene microsatellite polymorphism to the age-at-onset of insulin-dependent diabetes mellitus |
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| Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation |
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| Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis |
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| Mapping of a gene for May-Hegglin anomaly to chromosome 22q |
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| Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA |
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| Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region |
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| Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation |
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| Alström syndrome: further evidence for linkage to human chromosome 2p13 |
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| Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2–13.1 |
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| Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene |
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| Molecular genetics of human prion diseases in Germany |
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| Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population |
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| DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients |
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| A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity |
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| Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q |
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| The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect |
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| Alpha-tectorin involvement in hearing disabilities: one gene – two phenotypes |
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| Vitamin D receptor polymorphisms as markers in prostate cancer |
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| Complex patterns of intragenic polymorphism at the PDGFA locus |
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| Reorganization of the sex-determining pathway with the evolution of placentation |
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| Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration |
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|
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| Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) |
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| Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization |
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| A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y |
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| Missense mutations in hMLH1 associated with colorectal cancer |
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| Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics |
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| Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein |
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| Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males |
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| Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase |
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| Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome |
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| Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation |
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| Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia |
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| Mutation analysis of hereditary multiple exostoses in the Chinese |
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✓ |
|
Chinese |
| A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome |
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| Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer |
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| Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone |
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| Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes |
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| Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation |
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| A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16 |
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| Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines |
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| A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers |
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| Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells |
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| Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 |
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| A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution |
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| Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations |
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| CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia |
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| Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency |
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| NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C |
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| The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene |
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| Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma |
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| Transcript identification on the CLN5 region on chromosome 13q22 |
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| FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes |
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| The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA) |
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| BRCA1 mutations in African Americans |
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| X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset |
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| A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC |
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| Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin |
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| A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype |
|
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|
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| Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus |
|
|
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|
|
| Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations |
|
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|
|
| Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? |
|
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| Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis |
|
|
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|
|
| Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis |
|
|
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|
|
| Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age |
|
|
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|
|
| A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach |
|
|
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|
|
| Association between monoamine oxidase A activity in human male skin fibroblasts and genotype of the MAOA promoter-associated variable number tandem repeat |
|
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|
|
| A novel gene containing LIM domains (LIMD1) is located within the common eliminated region 1 (C3CER1) in 3p21.3 |
|
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|
|
| β3-Adrenergic receptor Trp64Arg polymorphism does not predict incident CHD or carotid intima-media thickness in a community-based sample of whites: the ARIC study |
|
|
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|
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|
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|
|
| Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations |
|
|
|
|
|
|
|
|
|
| Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene |
|
|
|
|
|
|
|
|
|
| G130V, a common FRDA point mutation, appears to have arisen from a common founder |
|
|
|
|
|
|
|
|
|
| Genetic susceptibility to pre-eclampsia and chromosome 7q36 |
|
|
|
|
|
|
|
|
|
| Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency |
|
|
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|
|
|
|
|
|
| MEN I gene mutations in sporadic adrenal adenomas |
|
|
|
|
|
|
|
|
|
| A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp |
|
|
|
|
|
|
|
|
|
| Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene |
|
|
|
|
|
|
|
|
|
| CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes |
|
|
|
|
|
|
|
|
|
| Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 |
|
|
|
|
|
|
|
|
|
| Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene |
|
|
|
|
|
|
|
|
|
| High throughput analysis of 10 microsatellite and 11 diallelic polymorphisms on the human Y-chromosome |
|
|
|
|
|
|
|
|
|
| BamHI-SacI RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication |
|
|
|
|
|
|
|
|
|
| Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria |
|
|
|
|
|
|
|
|
|
| X/Y translocation in a family with Leri-Weill dyschondrosteosis |
|
|
|
|
|
|
|
|
|
| Association of genetic polymorphisms of alcohol-metabolizing enzymes with excessive alcohol consumption in Japanese men |
|
|
|
|
|
|
|
|
|
| Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male |
|
|
|
|
|
|
|
|
|
| Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products |
|
|
|
|
|
|
|
|
|
| Genomic characterization of the human peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor gene: assessment of its role in familial dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Minisatellite mutational processes reduce Fst estimates |
|
|
|
|
|
|
|
|
|
| The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene |
|
|
|
|
|
|
|
|
|
| Inheritance of heart rate variability: the kibbutzim family study |
|
|
|
|
|
|
|
|
|
| Molecular analysis of eight mutations in FBN1 |
|
|
|
|
|
|
|
|
|
| Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes |
|
|
|
|
|
|
|
|
|
| Correlation between human papillomavirus-associated cervical cancer and p53 codon 72 arginine/proline polymorphism |
|
|
|
|
|
|
|
|
|
| Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency |
|
|
|
|
|
|
|
|
|
| Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC |
|
|
|
|
|
|
|
|
|
| Gene symbol: SALL1 |
|
|
|
|
|
|
|
|
|
| Erratum: Hum Genet (1999) 104: 36–42 |
|
|
|
|
|
|
|
|
|
| Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions |
|
|
|
|
|
|
|
|
|
| Gene symbol: SALL1 |
|
|
|
|
|
|
|
|
|
| Gene symbol: SALL1 |
|
|
|
|
|
|
|
|
|
| Chromosome 9qh inversions may not be true inversions |
|
|
|
|
|
|
|
|
|
| Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects |
|
|
|
|
|
|
|
|
|
| The frequency of lysosomal storage diseases in The Netherlands |
|
|
|
|
|
|
|
|
|
| A reply: pericentric inversion of chromosome 9qh are “real” but the mechanisms of their origin are highly complex |
|
|
|
|
|
|
|
|
|
| Erratum to: Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis |
|
|
|
|
|
|
|
|
|
| Erratum to: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases |
|
|
|
|
|
|
|
|
|
| Analysis of a paracentric inversion in human oocytes: nonhomologous pairing in pachytene |
|
|
|
|
|
|
|
|
|
| Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q |
|
|
|
|
|
|
|
|
|
| Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age |
|
|
|
|
|
|
|
|
|
| Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus |
|
|
|
|
|
|
|
|
|
| Association of genetic polymorphisms of alcohol-metabolizing enzymes with excessive alcohol consumption in Japanese men |
|
|
|
|
|
|
|
|
|
| CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes |
|
|
|
|
|
|
|
|
|
| Inheritance of heart rate variability: the kibbutzim family study |
|
|
|
|
|
|
|
|
|
| The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene |
|
|
|
|
|
|
|
|
|
| A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia |
|
|
|
|
|
|
|
|
|
| A testis-specific gene, TPTE , encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y |
|
|
|
|
|
|
|
|
|
| Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein |
|
|
|
|
|
|
|
|
|
| Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan |
|
|
|
|
|
|
|
|
|
| A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers |
|
|
|
|
|
|
|
|
|
| A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome |
|
|
|
|
|
|
|
|
|
| G130V, a common FRDA point mutation, appears to have arisen from a common founder |
|
|
|
|
|
|
|
|
|
| Genomic characterization of the human peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor gene: assessment of its role in familial dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Nucleotide sequence diversity in non-coding regions of ALDH2 as revealed by restriction enzyme and SSCP analysis |
|
|
|
|
|
|
|
|
|
| The mutation spectrum of the bestrophin protein - functional implications |
|
|
|
|
|
|
|
|
|
| Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies |
|
|
|
|
|
|
|
|
|
| DNA fingerprinting: M. Krawczak and J. Schmidtke BIOS Scientific Publishers (128 pages, second edition), ISBN 1-85996-062-6, £18.95, Paperback |
|
|
|
|
|
|
|
|
|
| Genetics and tuberculosis. Novartis Foundation Symposium 217: D. J. Chadwick, G. Cardew (Editors) John Wiley and Sons (269 pages), ISBN 0-471-98261-X, £ 57.50, Hardcover |
|
|
|
|
|
|
|
|
|
| A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 gene |
|
|
|
|
|
|
|
|
|
| Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics |
|
|
|
|
|
|
|
|
|
| Molecular cloning and characterization of the human NUDC gene |
|
|
|
|
|
|
|
|
|
| A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC |
|
|
|
|
|
|
|
|
|
| DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients |
|
|
|
|
|
|
|
|
|
| Chromosomal localization of three human poly(A)-binding protein genes and four related pseudogenes |
|
|
|
|
|
|
|
|
|
| Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome |
|
|
|
|
|
|
|
|
|
| Physical mapping of the G-protein coupled receptor 19 (GPR19) in the chromosome 12p12.3 region frequently rearranged in cancer cells |
|
|
|
|
|
|
|
|
|
| Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products |
|
|
|
|
|
|
|
|
|
| Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations |
|
|
|
|
|
|
|
|
|
| Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene |
|
|
|
|
|
|
|
|
|
| Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male |
|
|
|
|
|
|
|
|
|
| Genetic susceptibility to pre-eclampsia and chromosome 7q36 |
|
|
|
|
|
|
|
|
|
| Novel mutations in the 3' region of the polycystic kidney disease 1 (PKD1) gene |
|
|
|
|
|
|
|
|
|
| A large Alu -mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII) |
|
|
|
|
|
|
|
|
|
| Erratum: Hum Genet (1999) 104 : 241-248 |
|
|
|
|
|
|
|
|
|
| Characterisation of the human snail ( SNAI1 ) gene and exclusion as a major disease gene in craniosynostosis |
|
|
|
|
|
|
|
|
|
| Erratum: Hum Genet (1999) 104:526–527 |
|
|
|
|
|
|
|
|
|
| Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly ( HPE1 ) |
|
|
|
|
|
|
|
|
|
| Correlation between human papillomavirus-associated cervical cancer and p53 codon 72 arginine/proline polymorphism |
|
|
|
|
|
|
|
|
|
| A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency |
|
|
|
|
|
|
|
|
|
| Glycogen storage disease III subtypes and muscle weakness during childhood |
|
|
|
|
|
|
|
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|
| Amplification of Y-chromosomal STRs from ancient skeletal material |
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| Mutation analysis of hereditary multiple exostoses in the Chinese |
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| Alström syndrome: further evidence for linkage to human chromosome 2p13 |
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| Molecular diagnosis of type 1c glycogen storage disease |
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| Epigenetics: Derek J Chadwick (Organiser) and Gail Cardew (Editors) John Wiley and Sons Ltd (305 pages), ISBN 0-471-97771-3, £57.50, Hardback |
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| Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? |
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| The frequency of lysosomal storage diseases in The Netherlands |
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| P57 (KIP2) polymorphisms and breast cancer risk |
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| Erratum: Hum Genet (1999) 104: 36–42 |
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| Prevalence of germline mutations of h MLH1 , h MSH2 , h PMS1 , h PMS2 , and h MSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer |
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✓ |
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French |
| Neurofibromatosis type 1 from genotype to phenotype: M. Upadhyaya and D. N. Cooper BIOS Scientific Publishers (230 pages), ISBN 1-859-961 91-6, £67.50, Hardback |
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| Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases |
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| Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene |
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| Congenital Anomalies of the Ear, Nose and Throat: Ted L. Tewfik and Vazken M. Der Kaloustian (Editors) Oxford University Press (596 pages), ISBN 0-19-507784-9, £ 130.00, Hardcover |
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| The genomic structure and developmental expression patterns of the human OPA-containing gene ( HOPA ) |
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| Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects |
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| Association between monoamine oxidase A activity in human male skin fibroblasts and genotype of the MAOA promoter-associated variable number tandem repeat |
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| Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization |
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| Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase |
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| DNA Damage and Repair. Volume II: DNA Repair in Higher Eukaryotes: Jac A. Nickoloff and Merl F. Hoekstra (Editors) Humana Press (672 pages), ISBN 0-896-03500-X, US $ 125.00, Hardcover |
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| Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis |
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| A genome-wide scan for loci linked to forearm bone mineral density |
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| A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency |
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| Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations |
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| A genome-wide search for genes predisposing to familial psoriasis by using a stratification approach |
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| Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency |
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| A reply: pericentric inversion of chromosome 9qh are "real" but the mechanisms of their origin are highly complex |
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| Structural and mutational analysis of |
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| Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations |
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| Transcript identification on the CLN5 region on chromosome 13q22 |
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| Alpha-tectorin involvement in hearing disabilities: one gene - two phenotypes |
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| Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency |
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| 1176C Polymorphism in Japanese patients with glycogen storage disease type 1a |
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| Genetic variations in human fetal globin gene microsatellites and their functional relevance |
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| A high degree of aneuploidy in frozen-thawed human preimplantation embryos |
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| Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations |
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| Functional analysis of the p57 KIP2 gene mutation in Beckwith-Wiedemann syndrome |
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| Letter to the editor |
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| Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts |
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| Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population |
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| A novel gene containing LIM domains ( LIMD1 ) is located within the common eliminated region 1 (C3CER1) in 3p21.3 |
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| Erratum: Hum Genet (1998) 103:666-673 |
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| Mapping of the kinesin-related gene ATSV to chromosome 2q37 |
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| Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease |
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| Two novel mutations in a cystic fibrosis patient of Chinese origin |
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| Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma |
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| Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer |
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| The person behind the syndrome: Peter Beighton and Greta Beighton Springer-Verlag (231 pages), ISBN 3-540-76044-X, US $ 59.00, Hardback |
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| Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 |
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| Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin |
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✓ |
|
Pakistani origin |
| The human neuregulin-2 ( NRG2 ) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q |
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| Human Genetics announces Online First publication |
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| Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics |
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| Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency |
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| Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy |
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| Fibroblast growth factor homologous factor 2 ( FHF2 ): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS- |
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| Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient |
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| Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation |
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|
| Ancestral origin of variation in the triosephosphate isomerase gene promoter |
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| The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene |
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| Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines |
|
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|
| Inherited susceptibility to cancer. Clinical, predictive ethical prospectives: William D. Foulkes and Shirley V Hodgson (Editors) Cambridge University Press (470 pages), ISBN 0-521-56340-2, US $ 95.00 |
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| Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother |
|
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|
|
| High throughput analysis of 10 microsatellite and 11 diallelic polymorphisms on the human Y-chromosome |
|
|
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|
|
| Chromosome 9qh inversions may not be true inversions |
|
|
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|
|
| Erratum: Hum Genet (1999) 104:516–522 |
|
|
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|
|
| Bam HI- Sac I RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication |
|
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|
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| Minisatellite mutational processes reduce F st estimates |
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| Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 |
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| BRCA1 mutations in African Americans |
|
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|
| Relationship between clinical phenotype, semen parameters and aneuploidy frequency in sperm nuclei of 50 infertile males |
|
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|
| Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA |
|
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|
| Characterization of a novel α-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation |
|
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|
|
| Mutation detection: R.G.H. Cotton Oxford University Press (198 pages), ISBN 0-19-85488-5, US $ 45.00, Paperback |
|
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|
| Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene |
|
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| NME6: a new member of the nm23 /nucleoside diphosphate kinase gene family located on human chromosome 3p21.3 |
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| Preimplantation diagnosis of the ?1 integrin knockout mutation as a model for aneuploid gene testing |
|
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| Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM |
|
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| Complex patterns of intragenic polymorphism at the PDGFA locus |
|
|
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|
|
| Finding Mutations: J. Ross Hawkins BIOS Scientific Publishers Ltd (160 pages), ISBN 0-199-63611-7, � 12.99, Paperback |
|
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|
|
| Linkage of interleukin 6 locus to human osteopenia by sibling pair analysis |
|
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|
| The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect |
|
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|
| Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2-13.1 |
|
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|
| Absence of the Δccr5 mutation in indigenous populations of the Brazilian Amazon |
|
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| Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation |
|
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| Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment. Fourth Edition, 1998 |
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|
| Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions |
|
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|
|
| Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53 |
|
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|
|
| Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu) |
|
|
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|
✓ |
|
✓ |
|
European admixture; African Americans |
| SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients |
|
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|
|
| Analysis of sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients |
|
|
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|
| Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia |
|
|
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|
| A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene |
|
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|
| Vitamin D receptor polymorphisms as markers in prostate cancer |
|
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| Reorganization of the sex-determining pathway with the evolution of placentation |
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|
| X/Y translocation in a family with Leri-Weill dyschondrosteosis |
|
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| Molecular analysis of eight mutations in FBN1 |
|
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|
| A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR |
|
|
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|
| Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility |
|
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|
| Instant notes in genetics: P. C. Winter, G. I. Hickey and H. L. Fletcher |
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|
| Gene Symbol: AGXT Disease: Primary Hyperoxaluria type I |
|
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| Gene expression patterns in cell lines from patients with 18q- syndrome |
|
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| Delineation of two distinct 6p deletion syndromes |
|
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| Further evidence for a synergistic association between APOE ?4 and BCHE -K in confirmed Alzheimer's disease |
|
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|
| Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations |
|
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| A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity |
|
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|
| Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation |
|
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|
| Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography |
|
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| A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception |
|
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| A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH) |
|
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|
| Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level |
|
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|
| Combined RxFISH/G-banding allows refined karyotyping of solid tumors |
|
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|
| Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone |
|
|
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|
|
|
|
|
|
| Mapping of a gene for May-Hegglin anomaly to chromosome 22q |
|
|
|
|
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|
|
| Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ ( DAGK3 ): assessment of its role in dominant optic atrophy ( OPA1 ) |
|
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|
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|
|
| The STR polymorphisms in intron 8 may provide information about the molecular evolution of RH haplotypes |
|
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|
| The spectrum of microsatellite loci on chromosomes 7 and 8 in Taiwan aboriginal populations: a comparative population genetic study |
|
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|
| A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution |
|
|
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|
|
| A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp |
|
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|
|
| Repositioning the hereditary paraganglioma critical region on chromosome band 11q23 |
|
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|
| FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes |
|
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|
| Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes |
|
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|
| Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation |
|
|
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|
| CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia |
|
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|
|
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|
|
| Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria |
|
|
|
|
|
|
|
|
|
| Analysis of triplet repeat disorders: D. C. Rubinsztein and M. R. Hayden (Editors) |
|
|
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|
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|
|
| Duplication of 7p12.1-p13, including GRB10 and IGFBP1 , in a mother and daughter with features of Silver-Russell syndrome |
|
|
|
|
|
|
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|
|
| Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11) |
|
|
|
|
|
|
|
|
|
| Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region |
|
|
|
|
|
|
|
|
|
| Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization |
|
|
|
|
|
|
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|
|
| Missense mutations in hMLH1 associated with colorectal cancer |
|
|
|
|
|
|
|
|
|
| Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2 , the gene encoding the p67- phox component of phagocyte NADPH oxidase |
|
|
|
|
|
|
|
|
|
| Letter to human genetics journals |
|
|
|
|
|
|
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|
|
| Xp deletions associated with autism in three females |
|
|
|
|
|
|
|
|
|
| Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease |
|
|
|
|
|
|
|
|
|
| A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype |
|
|
|
|
|
|
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|
|
| Genetic contribution of the BAT2 gene microsatellite polymorphism to the age-at-onset of insulin-dependent diabetes mellitus |
|
|
|
|
|
|
|
|
|
| Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment |
|
|
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|
|
|
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|
|
| The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cells |
|
|
|
|
|
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|
|
| Enrichment of fetal trophoblasts and nucleated erythrocytes from maternal blood by an immunomagnetic colloid system |
|
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|
|
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|
|
| Phenylketonuria mutations in Germany |
|
|
|
|
|
|
|
|
|
| Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL) |
|
|
|
|
|
|
|
|
|
| Genomic organisation of the spinocerebellar ataxia type 7 ( SCA7 ) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration |
|
|
|
|
|
|
|
|
|
| Contribution of gene conversion in the evolution of the human ?-like globin gene family |
|
|
|
|
|
|
|
|
|
| Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast |
|
|
|
|
|
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|
|
| Human gene mutations |
|
|
|
|
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|
|
| A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16 |
|
|
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|
|
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|
| Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD) |
|
|
|
|
|
|
|
|
|
| Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR |
|
|
|
|
|
|
|
|
|
| Association of polymorphisms in the β 2 -adrenoreceptor gene with higher levels of parasitic infection |
|
|
|
|
|
|
|
|
|
| X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset |
|
|
|
|
|
|
|
|
|
| Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene |
|
|
|
|
|
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|
|
| Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis |
|
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| Allelic polymorphisms and RFLP in the human immunoglobulin lambda light chain locus |
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| Exclusion of RAI2 as the causative gene for Nance-Horan syndrome |
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| β3-Adrenergic receptor Trp64Arg polymorphism does not predict incident CHD or carotid intima-media thickness in a community-based sample of whites: the ARIC study |
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| Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22 |
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| World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker |
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| Testing the nonrandomness of chromosomal breakpoints using highest observed breakages |
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| MEN I gene mutations in sporadic adrenal adenomas |
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