| FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother |
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| Predictive testing for hereditary breast and ovarian cancer: a psychological framework for pre-test counselling |
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| Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome |
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| Haemochromatosis gene mutations and risk of coronary artery disease |
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| Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) |
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| Preserved speech variant is allelic of classic Rett syndrome |
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| Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes |
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| FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes |
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| Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome |
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| Author Index |
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| Keyword index |
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| Microdissection of chromosome 2 – between-arm intrachromosomal insertion |
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| Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease |
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| Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family |
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| A gene for ataxic cerebral palsy maps to chromosome 9p12–q12 |
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| FAP and Marfanoid habitus |
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| Phenotype in patients with Angelman syndrome |
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| Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions |
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| Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping |
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| Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population |
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| Extended structural variation of a pentanucleotide repeat in the GSTP1 gene: characterisation in a normal population and in thyroid and gastric tumours |
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| Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion |
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| Mole maker phenotype: possible narrowing of the candidate region |
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| Protection of privacy by third-party encryption in genetic research in Iceland |
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| Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations |
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| A linkage disequilibrium map of the MHC region based on the analysis of 14 loci haplotypes in 50 French families |
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| Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach |
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| Combined segregation and linkage analysis of 59 Hodgkin's disease families indicates the role of HLA determinants |
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| Gaucher disease: expression and characterization of mild and severe acid β-glucosidase mutations in Portuguese type 1 patients |
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| Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations |
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✓ |
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|
Indo-European populations |
| Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups |
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| Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration |
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| Familial Mediterranean fever in the ‘Chuetas’ of Mallorca: a question of Jewish origin or genetic heterogeneity |
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| Isolation and chromosomal localization of a new human retinoblastoma binding protein 2 homologue 1a (RBBP2H1A) |
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| Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus |
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| Pedigree tests of transmission disequilibrium |
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| High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes |
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| Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia |
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| A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease |
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| Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study |
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| Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome |
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| Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25 |
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| Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements |
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| Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostos |
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| DNA arrays: methods and applications: report on HUGO Meeting, Tartu, Estonia, 23–26 May, 1999 |
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| Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines |
|
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| Age of diagnosis-based linkage analysis in type 1 diabetes |
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| A novel expression based approach for assessing the inactivation status of human X-linked genes |
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| Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A |
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|
|
| Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families |
|
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| The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders |
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| Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation |
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| Book Review |
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| No evidence for the involvement of CAG/CTG repeats from within 18q21.33–q23 in bipolar disorder |
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| Identification of novel USH2A mutations: implications for the structure of USH2A protein |
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| Stability and haplotype analysis of the FRAXE region |
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| Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects |
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| Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis |
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| Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations |
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|
✓ |
|
Slav populations ("three Slav populations") |
| Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes |
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| Elastin: mutational spectrum in supravalvular aortic stenosis |
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| Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples |
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| Parental origin and mechanisms of formation of triploidy: a study of 25 cases |
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|
| Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome |
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| Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1–Xp21.3 mental retardation |
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|
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| Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis |
|
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|
|
| Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28 |
|
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|
|
| Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH |
|
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| Accuracy of family history of cancer: clinical genetic implications |
|
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|
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| Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach |
|
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|
|
| 2000: promises and plans |
|
|
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|
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|
|
| Publisher's announcement |
|
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|
|
| Novel mutations in the duplicated region of PKD1 gene |
|
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| MtDNA and Y chromosome polymorphisms in Hungary: inferences from the palaeolithic, neolithic and Uralic influences on the modern Hungarian gene pool |
|
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|
|
| Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population |
|
|
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|
✓ |
|
non-Jewish population |
| X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations |
|
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|
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|
|
| A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome |
|
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|
|
| Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening |
|
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|
|
| Molecular basis of hereditary pancreatitis |
|
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|
|
| Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene |
|
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|
|
| Spectrum of retGC1 mutations in Leber's congenital amaurosis |
|
|
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|
|
| X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3 |
|
|
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|
|
| Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13 |
|
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|
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|
|
| The IL9R region contribution in asthma is supported by genetic association in an isolated population |
|
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|
|
| mtDNA hypervariable region II (HVII) sequences in human evolution studies |
|
|
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|
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|
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|
|
| A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31 |
|
|
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|
|
|
|
|
| Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3′A, CCR2-64I, and CCR5-Δ32) in global populations |
|
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|
|
|
|
|
| APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients |
|
|
|
|
|
|
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|
|
| Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes |
|
|
|
|
|
|
|
|
|
| High carrier frequency of the 35delG deafness mutation in European populations |
|
|
|
|
✓ |
|
|
|
European populations |
| Letter |
|
|
|
|
|
|
|
|
|
| Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombi |
|
|
|
|
|
|
✓ |
|
Finnish |
| Discovery, scoring and utilization of human single nucleotide polymorphisms: a multidisciplinary problem |
|
|
|
|
|
|
|
|
|
| Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity |
|
|
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|
|
|
|
|
|
| FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti |
|
|
|
|
|
|
|
|
|
| Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment |
|
|
|
|
|
|
|
|
|
| Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb |
|
|
|
|
|
|
|
|
|
| Cell type specificity in alternative splicing of the human mismatch repair gene hMSH2 |
|
|
|
|
|
|
|
|
|
| Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene |
|
|
|
|
|
|
|
|
|
| An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA) |
|
|
|
|
|
|
|
|
|
| Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies |
|
|
|
|
|
|
|
|
|
| Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q |
|
|
|
|
|
|
|
|
|
| Identification of genetic heterogeneity in Refsum's disease |
|
|
|
|
|
|
|
|
|
| Inferring the impact of linguistic boundaries on population differentiation: application to the Afro-Asiatic–Indo-European case |
|
|
|
|
|
|
✓ |
|
Indo-European; Afro-Asiatic |
| Inv dup(22), del(22)(q11) and r(22) in the father of a child with DiGeorge syndrome |
|
|
|
|
|
|
|
|
|
| Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland |
|
|
|
|
|
|
|
|
|
| A reinvestigation of non-disjunction resulting in 47, XXY males of paternal origin |
|
|
|
|
|
|
|
|
|
| Psychological consequences of predictive genetic testing: a systematic review |
|
|
|
|
|
|
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|
|
| PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism |
|
|
|
|
|
|
|
|
|
| CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands |
|
|
|
|
|
|
|
|
|
| A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2 |
|
|
|
|
|
|
|
|
|
| Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3 |
|
|
|
|
|
|
|
|
|
| Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families |
|
|
|
|
|
|
|
|
|
| Simple two-color array-based approach for mutation detection |
|
|
|
|
|
|
|
|
|
| Erratum: EUROGAPPP PROJECT 1999 - 2000 Public and Professional Policy Committee (PPPC)* Population genetic screening programmes: Proposed recommendations of the European Society of Human Genetics |
|
|
|
|
|
|
|
|
|
| Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22 |
|
|
|
|
|
|
|
|
|
| WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog |
|
|
|
|
|
|
|
|
|
| RNA-based mutation screening in German families with Sjögren-Larsson syndrome |
|
|
|
|
|
|
|
|
|
| Genetic structure of north-west Africa revealed by STR analysis |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo |
|
|
|
|
|
|
|
|
|
| An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12 |
|
|
|
|
|
|
|
|
|
| Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint |
|
|
|
|
|
|
|
|
|
| Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India |
|
|
|
|
|
|
|
|
|
| Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome |
|
|
|
|
|
|
|
|
|
| A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease |
|
|
|
|
|
|
|
|
|
| A new mutation in the six-domain of SIX3 gene causes holoprosencephaly |
|
|
|
|
|
|
|
|
|
| Allelic association is increased by correlation of effective family size |
|
|
|
|
|
|
|
|
|
| Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas |
|
|
|
|
|
|
|
|
|
| Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor |
|
|
|
|
|
|
|
|
|
| Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology |
|
|
|
|
|
|
|
|
|
| SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion |
|
|
|
|
|
|
|
|
|
| Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family |
|
|
|
|
|
|
|
|
|
| Potential relationship between genotype and clinical outcome in propionic acidaemia patients |
|
|
|
|
|
|
|
|
|
| Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome |
|
|
|
|
|
|
|
|
|
| Reproductive and menstrual history of females with fragile X expansions |
|
|
|
|
|
|
|
|
|
| Giant axonal neuropathy locus refinement to a < 590 kb critical interval |
|
|
|
|
|
|
|
|
|
| Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients |
|
|
|
|
|
|
|
|
|
| A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis? |
|
|
|
|
|
|
|
|
|
| Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome |
|
|
|
|
|
|
|
|
|
| APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population |
|
|
|
|
|
|
|
|
|
| Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria |
|
|
|
|
|
|
|
|
|
| Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene |
|
|
|
|
|
|
|
|
|
| Inheritance of human longevity in Iceland |
|
|
|
|
|
|
|
|
|
| Hereditary spastic paraplegia caused by mutations in the SPG4 gene |
|
|
|
|
|
|
|
|
|
| From developmental biology to dysmorphology |
|
|
|
|
|
|
|
|
|
| Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family |
|
|
|
|
|
|
|
|
|
| NRL S50T mutation and the importance of ‘founder effects’ in inherited retinal dystrophies |
|
|
|
|
|
|
|
|
|
| Familial Robertsonian translocation 15;21 and rare paracentric inv(21): unexpected re-inversion in a child with translocation trisomy 21 |
|
|
|
|
|
|
|
|
|
| Identification of a subtle t(16;19)(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL |
|
|
|
|
|
|
|
|
|
| Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9 |
|
|
|
|
|
|
|
|
|
| Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia |
|
|
|
|
|
|
|
|
|
| Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions |
|
|
|
|
|
|
|
|
|
| Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23 |
|
|
|
|
|
|
|
|
|
| Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6 |
|
|
|
|
|
|
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|
|
| A robust test for assortative mating |
|
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| Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3v EGF-like repeat domains |
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| A likelihood-based extended admixture model of oligogenic inheritance in ‘model-based’ and ‘model-free’ analysis |
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| Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 |
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| Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients |
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| Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features |
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| A new human genetic resource: a DNA bank established as part of the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC) |
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| An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32–p11.23 in an Italian family |
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✓ |
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| Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family |
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| Mitochondrial DNA sequences in prehistoric human remains from the Alps |
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| Appendix 1 |
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| Appendix 2 |
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| Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis |
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| Recommendations in a nutshell |
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