| Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family |
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| Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier |
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| Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation |
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| Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) |
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✓ |
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Jewish |
| A complete protein truncation test for BRCA1 and BRCA2 |
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| Screening of CFTR mutations in an isolated population: identification of carriers and patients |
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| A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36 |
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| Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect |
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| Integrated physical and transcript map of 5q31.3-qter |
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| Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy |
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| Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience |
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| Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy |
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| Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism |
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| Exclusion of the SCN2B gene as candidate for CMT4B |
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| Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette |
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| Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24 |
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| Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation |
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| Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness |
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| Short tandem repeat polymorphism evolution in humans |
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| Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome? |
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| Modifier genes in humans: strategies for identification |
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| Cellular heterogeneity of CFTR expression and function in the lung: implications for gene therapy of cystic fibrosis |
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| In the light of preimplantation genetic diagnosis: some ethical issues in medical genetics revisited |
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| Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protoco |
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| Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene |
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| MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13 |
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| Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency |
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| Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) |
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| Genetic diversity in Northern Spain (Basque Country and Cantabria): GM and KM variation related to demographic histories |
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| Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene |
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| Isolation of a novel human voltage-dependent anion channel gene |
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| Crossing over analysis at pachytene in man |
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| Analysis of FMR1 and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a “protector” haplotype |
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| UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2 |
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| Meiotic segregation analysis by FISH investigations in sperm and spermatocytes of translocation heterozygotes |
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| Generation of a transcription map distal to HLA-F |
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| Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II |
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| A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis |
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| Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2) |
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| Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway |
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| A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing |
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| Germline mosaicism in Coffin-Lowry syndrome |
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| Different ancestor alleles: a reason for the bimodal fragment size distribution in the minisatellite D2S44 (YNH24) |
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| Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families |
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| His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype |
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| Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms |
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| A new candidate region for the positional cloning of the XLP gene |
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| The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones |
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| Prenatal diagnosis in CDG1 families: beware of heterogeneity |
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| Evidence against a major role of PEG1/MEST in Silver–Russell syndrome |
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| Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome |
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| A novel 25 bp tandem repeat within the human trefoil peptide gene TFF2 in 21q22.3: polymorphism and mammalian evolution |
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| First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q |
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| Applications of emerging technologies to the study of human genetics |
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| Cytogenetic and molecular study of four couples with multiple trisomy 21 pregnancies |
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| Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues |
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| Linkage analysis in two large Italian pedigrees affected with nail patella syndrome |
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✓ |
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Italian |
| Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1 |
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| Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene |
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✓ |
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Spanish gypsies |
| A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9 |
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✓ |
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Middle Eastern |
| Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene |
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| Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies |
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| Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy |
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| Parallel molecular genetic analysis |
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| Haplotype and mutation analysis in Greek patients with Wilson disease |
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| Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies |
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| X-linked ocular albinism: prevalence and mutations – a national study |
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| Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP) |
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| Endemic Tyrolean infantile cirrhosis is not an allelic variant of Wilson's disease |
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| Genetic homogeneity of lysinuric protein intolerance |
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| Erratum |
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| Localisation of a Fanconi anaemia gene to chromosome 9p |
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| Genetic linkage of Meleda disease to chromosome 8qter |
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| Genetic mapping of X-linked loci involved in skewing of X chromosome inactivation in the human |
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| Erratum: Errata |
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| Author index |
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| Keyword index |
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| Chinese amend policy on sterilisation for genetic reasons |
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| Concentrations of the atherogenic Lp(a) are elevated in familial hypercholesterolaemia: a sib pair and family analysis |
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| Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience |
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| Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE) |
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✓ |
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Jewish-Israeli |
| Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22) |
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| BRCA2 germline mutations in Swedish breast cancer families |
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| Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers |
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| Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance |
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| Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia |
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✓ |
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European patients with severe hypophosphatasia |
| A new year, a new face |
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| Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment |
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| Asynchronous replication of allelic loci in Down syndrome |
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| mtDNA analysis of the Galician population: a genetic edge of European variation |
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✓ |
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European variation |
| A very high density microsatellite map (1 STR / 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region |
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| Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis |
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| Educational material on genetics for schools: ‘The Science behind the Jeans for Genes Day’ |
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| Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse |
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| Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? |
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| Polymorphism at the tetranucleotide repeat locus DYS389 in 10 populations reveals strong geographic clustering |
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