| Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting |
|
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|
|
| Extreme variant of the short arm of chromosome 15 |
|
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|
|
| Allelic association between a Ser-9-Gly polymorphism in the dopamine D3 receptor gene and schizophrenia |
|
|
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|
|
| Localization of the humanRGR opsin gene to chromosome 10q23 |
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|
|
| Novel interleukin-1 receptor antagonist exon polymorphisms and their use in allele-specific mRNA assessment |
|
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|
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| Hereditary ceruloplasmin deficiency with hemosiderosis |
|
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|
|
| Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes |
|
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|
|
| Localization of the human vascular endothelial growth factor gene,VEGF, at Chromosome 6p12 |
|
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|
|
|
| Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13 |
|
|
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|
|
|
|
| Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome |
|
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|
|
| A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males |
|
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|
|
|
| Allele-specific quantification of TNFA transcripts in rheumatoid arthritis |
|
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|
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| Hb Costa Rica or α2β277(EF1)His→Arg: The first example of a somatic cell mutation in a globin gene |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
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|
|
| Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11g13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene |
|
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|
|
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| EagI andNotI linking clones from human chromosomes 11 and Xp |
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| Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells |
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| Distribution and frequency of a polymorphicAlu insertion at the plasminogen activator locus in humans |
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| Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities |
|
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| Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10) |
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|
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| Six new polymorphic microsatellite markers used for the integration of genetic and physical maps of human chromosome 7 |
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| H-Y antigens |
|
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| A novel 5′-upstream mutation in the factor X11 gene is associated with a Taql restriction site in an Alu repeat in factor X11-deficient patients |
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|
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| A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus |
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| Geographic distribution and origin of CFTR mutations in Germany |
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| The effect of Y-chromosome alpha-satellite array length on the rate of sex chromosome disomy in human sperm |
|
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|
|
| Allelic loss of the short arm of chromosome 4 in neuroblastoma suggests a novel tumour suppressor gene locus |
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|
|
| Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation |
|
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|
|
| Characterization of the human p57KIP2 gene: Alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis |
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|
|
| Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR |
|
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|
|
| Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy |
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|
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| A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene |
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|
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| New allele variants of the immunoglobulin switch (Sα) regions |
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| A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene |
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| Erratum |
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| A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family |
|
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|
✓ |
|
Japanese |
| Assignment of the human ST2 gene to chromosome 2 at q11.2 |
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| Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing |
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|
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| Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells |
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|
|
| Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein |
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|
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|
|
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|
|
| The human lanosterol synthase gene maps to chromosome 21q22.3 |
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|
|
| Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin |
|
|
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|
|
| A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy |
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|
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|
|
| Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure |
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|
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|
|
| Genotypes with the apolipoprotein ε4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men |
|
|
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|
✓ |
|
Finnish men |
| A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease |
|
|
|
|
|
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|
|
| Generation of sequence-tagged sites from Xp22.3 by isolating commonAlu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments |
|
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|
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|
|
| A novel polymorphism in the coding region of CYBB, the human gp91-phox gene |
|
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|
|
| Cartographic study: Breakpoints in 1574 families carrying human reciprocal translocations |
|
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|
|
| Mapping of the variegate porphyria (VP) gene: Contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32 |
|
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|
|
|
|
|
|
| SRY-negative true hermaphrodites and an XX male in two generations of the same family |
|
|
|
|
|
|
|
|
|
| Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia |
|
|
|
|
|
|
|
|
|
| Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas |
|
|
|
|
|
|
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|
|
| Distribution of mosaicism in human placentae |
|
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|
|
|
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|
|
| Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters |
|
|
|
|
|
|
|
|
|
| An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine |
|
|
|
|
|
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|
|
| Genetic deficiencies of the glycogen phosphorylase system |
|
|
|
|
|
|
|
|
|
| Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Tu |
|
|
|
|
|
|
|
|
|
| Human chromosome 1 localization of the gene for a prostaglandin F2α, receptor negative regulatory protein |
|
|
|
|
|
|
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|
|
| Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families |
|
|
|
|
|
|
|
|
|
| Canavan Foundation Postdoctoral Fellowship |
|
|
|
|
|
|
|
|
|
| The contribution of polymorphism in the alcohol dehydrogenase β subunit to alcohol sensitivity in a Japanese population |
|
|
|
|
|
|
|
|
|
| Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2 |
|
|
|
|
|
|
|
|
|
| Identification and characterization of three genes and two pseudogenes on chromosome 13 |
|
|
|
|
|
|
|
|
|
| Allelic association of microsatellites of 6p in Italian hemochromatosis patients |
|
|
|
|
|
|
|
|
|
| Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms |
|
|
|
|
|
|
|
|
|
| Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: Evidence for a defect in gonadal ridge development |
|
|
|
|
|
|
|
|
|
| Proportion of the GSTM 10/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases |
|
|
|
|
|
|
✓ |
|
Slavic populations |
| A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| Congenital alacrima in a patient with G (Opitz Frias) syndrome |
|
|
|
|
|
|
|
|
|
| A polymorphism but no mutations in the GADD45 gene in breast cancers |
|
|
|
|
|
|
|
|
|
| Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion |
|
|
|
|
|
|
|
|
|
| Trisomy of human chromosome 18: Molecular studies on parental origin and cell stage of nondisjunction |
|
|
|
|
|
|
|
|
|
| Psychosis and genes with trinucleotide repeat polymorphism |
|
|
|
|
|
|
|
|
|
| Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| Genetic analysis of twenty-two patients with Cockayne syndrome |
|
|
|
|
|
|
|
|
|
| A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement |
|
|
|
|
|
|
✓ |
|
Japanese |
| SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: Polymorphisms detected in South African black and white subjects |
|
|
✓ |
|
|
|
✓ |
|
South African black |
| An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite |
|
|
|
|
|
|
|
|
|
| Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map |
|
|
|
|
|
|
|
|
|
| Novel trinucleotide deletion in Fabry's disease |
|
|
|
|
|
|
|
|
|
| Activation status of the X chromosome in human micronucleated lymphocytes |
|
|
|
|
|
|
|
|
|
| Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype |
|
|
|
|
|
|
|
|
|
| Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome |
|
|
|
|
|
|
|
|
|
| Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q |
|
|
|
|
|
|
|
|
|
| Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype |
|
|
|
|
|
|
|
|
|
| Announcements |
|
|
|
|
|
|
|
|
|
| Association of CTG repeats and the 1-kbAlu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mu |
|
|
|
|
|
|
✓ |
|
Japanese population; Eurasian origin |
| Sex difference in the regulation of plasma high density lipoprotein cholesterol by genetic and environmental factors |
|
|
|
|
|
|
|
|
|
| Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9 |
|
|
|
|
|
|
|
|
|
| Identification of four novel splice site mutations in the ornithine transcarbamylase gene |
|
|
|
|
|
|
|
|
|
| CpG dinucleotides in the hMSH2 and hMLHI genes are hotspots for HNPCC mutations |
|
|
|
|
|
|
|
|
|
| The murine homolog of the human breast and ovarian cancer susceptibility geneBrca1 maps to mouse chromosome 11D |
|
|
|
|
|
|
|
|
|
| Population study of the G1691A mutation (R506% FV Leiden) in the human factor V gene that is associated with resistance to activated protein C |
|
|
|
|
|
|
|
|
|
| Mutations of theBtk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan |
|
|
|
|
|
|
|
|
|
| Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type |
|
|
|
|
|
|
✓ |
|
Japanese |
| A novel (TA)n polymorphism in the hexokinase II gene: Application to noninsulin-dependent diabetes mellitus in the Pima Indians |
|
|
|
|
|
|
|
|
|
| A solitary human H3 histone gene on chromosome 1 |
|
|
|
|
|
|
|
|
|
| No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers |
|
|
|
|
|
|
|
|
|
| Alternative splicing of dystrophin exon 4 in normal human muscle |
|
|
|
|
|
|
|
|
|
| The enigma of common fragile sites |
|
|
|
|
|
|
|
|
|
| Genomic structure and PCR-SSCP analysis of the human CD40 ligand gene: Its application to prenatal screening for X-linked hyper-IgM syndrome |
|
|
|
|
|
|
|
|
|
| A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2 |
|
|
|
|
|
|
|
|
|
| Expression and regulation of the dystrophin Purkinje promoter in human skeletal muscle, heart, and brain |
|
|
|
|
|
|
|
|
|
| HbF-Lesvos: An HbF variant due to a novel Gγ mutation (:Gγ 75 ATA→ACA) detected in a Greek family |
|
|
|
|
|
|
✓ |
|
Greek family |
| A common region of loss of heterozygosity in Wilms' tumor and embryonal rhabdomyosarcoma distal to the D11S988 locus on chromosome 11p15.5 |
|
|
|
|
|
|
|
|
|
| Increased incidence of hyperhaploid 24,XY spermatozoa detected by three-colour FISH in a 46,XY/47,XXY male |
|
|
|
|
|
|
|
|
|
| Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: A defect expression of a developmental control gene? |
|
|
|
|
|
|
|
|
|
| Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation |
|
|
|
|
|
|
|
|
|
| X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe |
|
|
|
|
|
|
|
|
|
| A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: Impact on serum lipoprotein concentrations |
|
|
|
|
|
|
✓ |
|
ethnic populations |
| Programs, databases, and expert systems for human geneticists — a survey |
|
|
|
|
|
|
|
|
|
| Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy |
|
|
|
|
|
|
|
|
|
| Familial adenomatous polyposis: A submicroscopic deletion at the APC locus in a family with mentally normal patients |
|
|
|
|
|
|
|
|
|
| Arylsulfatase A pseudodeficiency in Chinese |
|
|
|
|
|
|
✓ |
|
Chinese |
| Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells |
|
|
|
|
|
|
|
|
|
| Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype |
|
|
|
|
|
|
|
|
|
| Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome |
|
|
|
|
|
|
|
|
|
| A new highly polymorphic marker in the 5' untranslated region of HLA-F shows strong allelic association with haemochromatosis |
|
|
|
|
|
|
|
|
|
| Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene |
|
|
|
|
|
|
|
|
|
| Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy |
|
|
|
|
|
|
|
|
|
| Deletions of the long arm of chromosome 10 in progression of follicular thyroid tumors |
|
|
|
|
|
|
|
|
|
| Geographic differences in the allele frequencies of the human Y-linked tetranucleotide polymorphism DYS19 |
|
|
|
|
|
|
|
|
|
| Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family |
|
|
|
|
|
|
|
|
|
| Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes |
|
|
|
|
|
|
|
|
|
| A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family |
|
|
|
|
|
|
✓ |
|
Dutch family |
| Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p32.3–33 |
|
|
|
|
|
|
|
|
|
| A new base substitution in the 5′ regulatory region of the humanAγ globin gene is linked with the βs gene |
|
|
|
|
|
|
|
|
|
| No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma |
|
|
|
|
|
|
|
|
|
| Interleukin-1 receptor antagonist allele (ILIRN*2) associated with nephropathy in diabetes mellitus |
|
|
|
|
|
|
|
|
|
| A novel mechanism for the origin of supernumerary marker chromosomes |
|
|
|
|
|
|
|
|
|
| Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2–p13 by fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone |
|
|
|
|
|
|
|
|
|
| Fanconi anaemia complementation groups in Germany and The Netherlands |
|
|
|
|
|
|
|
|
|
| Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population |
|
|
|
|
|
|
|
|
|
| Angelman syndrome in an inbred family |
|
|
|
|
|
|
|
|
|
| Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis in Argentina: The frequency of the ΔF508 mutation |
|
|
|
|
|
|
|
|
|
| Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes |
|
|
|
|
|
|
|
|
|
| The gene for X-linked hypophosphataemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE) |
|
|
|
|
|
|
|
|
|
| Objective analysis of centromere separation |
|
|
|
|
|
|
|
|
|
| Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families |
|
|
|
|
|
|
|
|
|
| Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV |
|
|
|
|
|
|
|
|
|
| Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency |
|
|
|
|
|
|
|
|
|
| The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870–1900 |
|
|
|
|
|
|
|
|
|
| X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin |
|
|
|
|
|
|
|
|
|
| A deletion of five nucleotides in the LICAM gene in a Japanese family with X-linked hydrocephalus |
|
|
|
|
|
|
✓ |
|
Japanese |
| Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region |
|
|
|
|
|
|
|
|
|
| Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France |
|
|
|
|
|
|
|
|
|
| An analysis of Xq deletions |
|
|
|
|
|
|
|
|
|
| High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: Rapid chromosome identification by directly fluorescently labeled alphoid DNA probes |
|
|
|
|
|
|
|
|
|
| Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7–10 Mb YAC contig of 5q34–q35 |
|
|
|
|
|
|
|
|
|
| Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization |
|
|
|
|
|
|
|
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| Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1 |
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| Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy |
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| Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods |
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| Telomere elongation observed in immortalized human fibroblasts by treatment with 60Co gamma rays or 4-nitroquinoline 1-oxide |
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| Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype |
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| Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A |
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| Direct detection of disomy in human sperm by the PRINS technique |
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| Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) |
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| A novel mutation in exon 17 of the ?-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family |
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| Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X |
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| Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients |
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| Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice |
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| Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship |
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| A clinical and molecular study of mosaicism for trisomy 17 |
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| Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs? gene |
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| A novel site of DNA amplification on chromosome 1p32-33 in a rhabdomyosarcoma revealed by comparative genomic hybridization |
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| Mutational analysis of the human cyclin-dependent kinase inhibitor p27kip1 in primary breast carcinomas |
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| Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by delet |
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| Apparent higher frequency of phenylketonuria in the Mexican state of Jalisco |
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| Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE) |
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| Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome |
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| Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas |
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| Editorial help |
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| Announcements |
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| DMA polymorphisms in adhesion molecule genes ? a new risk factor for early atherosclerosis |
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| Xp-duplications with and without sex reversal |
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| Isolation and characterization of the human mismatch repair gene hMSH2 promoter region |
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| A highly polymorphic CA/GT repeat in intron 3 of the human urokinase receptor gene (PLAUR) |
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| Cloning of contiguous genomic fragments from human chromosome 21 harbouring three trefoil peptide genes |
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| Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p32.3-33 |
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| A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus |
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✓ |
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Japanese family |
| Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization |
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| Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms |
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| Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Tu |
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| Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein |
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| Cartographic study: breakpoints in 1574 families carrying human reciprocal translocations |
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| Genotypes with the apolipoprotein Â4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men |
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| A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease |
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| A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy |
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| Eag I and Not I linking clones from human chromosomes 11 and Xp |
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| Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells |
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| Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome |
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| Allele-specific quantification of TNFA transcripts in rheumatoid arthritis |
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| The effect of Y-chromosome alpha-satellite array length on the rate of sex chromosome disomy in human sperm |
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| A novel 5′-upstream mutation in the factor XII gene is associated with a Taq I restriction site in an Alu repeat in factor XII-deficient patients |
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| Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis |
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| Physical linkage and orientation of the human complement C8α and C8β genes on chromosome 1p32 |
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| The apolipoprotein B Q3405E polymorphism has no effect on its low-density-lipoprotein receptor binding affinity |
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| The high mobility group I-C gene (HMGI-C): polymorphism and genetic localization |
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| The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870-1900 |
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| Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes |
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| High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: rapid chromosome identification by directly fluorescently labeled alphoid DNA probes |
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| Generation of sequence-tagged sites from Xp22.3 by isolating common Alu -PCR products of radiation hybrids retaining overlapping human X chromosome fragments |
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| Characterization of the human p57 KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis |
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| An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine |
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| New allele variants of the immunoglobulin switch (Sα) regions |
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| A new Xmn I polymorphism in the regulatory region of the corticotropin releasing hormone gene |
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| The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia |
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| Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene |
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| Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency |
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| Exclusion of the phosphoinositide-specific phospholipase C?3 ( PLCB3 ) gene as a candidate for multiple endocrine neoplasia type 1 |
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| Human chromosome 1 localization of the gene for a prostaglandin F 2α receptor negative regulatory protein |
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| X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers |
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| Polymorphisms of apolipoproteins A-IV and E in a Turkish population living in Germany |
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| Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease |
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| Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency |
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| Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene |
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| A novel mechanism for the origin of supernumerary marker chromosomes |
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| Genetic analysis of twenty-two patients with Cockayne syndrome |
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| SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: polymorphisms detected in South African black and white subjects |
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✓ |
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✓ |
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South African black and white subjects |
| Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type |
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| Allelic association of microsatellites of 6p in Italian hemochromatosis patients |
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| Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: evidence for a defect in gonadal ridge development |
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| Complex mutational events at the HumD21S11 locus |
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| The G1691A mutation of the coagulation factor V gene (factor V Leiden) is rare in Chinese: an analysis of 618 individuals |
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✓ |
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Chinese |
| Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe |
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| Fragile site and interstitial telomere repeat sequences at the fusion point of a de novo (Y;13) translocation |
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| Evidence of somatic mutations in osteoarthritis |
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| Genetic deficiencies of the glycogen phosphorylase system |
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| Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas |
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| Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin |
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| Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families |
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| Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting |
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| Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes |
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| Six new polymorphic microsatellite markers used for the integration of genetic and physical maps of human chromosome 7 |
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| Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation |
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| The gene encoding the p60 subunit of chromatin assembly factor I ( CAF1P60 ) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome |
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| Assignment of the NTRK4 (trkE) gene to chromosome 6p21 |
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| Beta-thalassaemia in indigenous Belgian families: identification of a novel mutation |
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| Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease |
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✓ |
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Cypriot |
| Hypertriglyceridemia and the apolipoprotein CIII gene locus: lack of association with the variant insulin response element in Italian school children |
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| Isolation and characterization of the full-length 3′ untranslated region of the human von Hippel-Lindau tumor suppressor gene |
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| Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig |
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| Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry |
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✓ |
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French-Canadian ancestry |
| Revised transthyretin Ile 122 allele frequency in African-Americans |
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| Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved |
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| Molecular cytogenetic characterization of breakpoints involving pericentric inversions of human chromosome 9 |
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| Molecular genetics of familial hypercholesterolemia in Israel |
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| The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era |
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| Absence of association between the Gly 40 →Ser mutation in the human glucagon receptor and Japanese patients with non-insulin-dependent diabetes mellitus or impaired glucose tolerance |
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✓ |
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Japanese |
| Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome |
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| DNA analysis of the immunoglobulin IGHG loci in a Mandenka population from eastern Senegal: correlation with Gm haplotypes and hypotheses for the evolution of the Ig CH region |
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| Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product |
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| Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene |
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| Turner syndrome: a study of chromosomal mosaicism |
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| Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations |
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| Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene |
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| Prevalence of α-thalassemias in northern Thailand |
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| Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism |
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| Analysis of the Bgl I restriction fragment length polymorphism in the human factor VIII gene using "virtual PCR" - a novel approach employing the polymerase chain reaction in the absence of sequence i |
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| Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval |
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| Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer's disease |
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✓ |
|
ethnic variation |
| Hin dIII DNA polymorphism in the lipoprotein lipase gene and plasma lipid phenotypes and carotid artery atherosclerosis |
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| Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease |
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| Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families |
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| Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing |
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| Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency |
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| Microsatellite variation and the differentiation of modern humans |
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| An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans |
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| Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas |
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| Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy |
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| Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family |
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| Human Gene Mutation Database |
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| Molecular studies in three patients with isodicentric Y chromosome |
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| PCR-based detection of mosaicism in Turner syndrome patients |
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| The contribution of polymorphism in the alcohol dehydrogenase β subunit to alcohol sensitivity in a Japanese population |
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| A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement |
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| Novel interleukin-1 receptor antagonist exon polymorphisms and their use in allele-specific mRNA assessment |
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| Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10) |
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| Identification and characterization of NF1 -related loci on human chromosomes 22, 14 and 2 |
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| Geographic homogeneity and non-equilibrium patterns of mtDNA sequences in Tuscany, Italy |
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| Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2-p13 by fluorescence in situ hybridization |
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| Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7-10 Mb YAC contig of 5q34-q35 |
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| Identification and characterization of three genes and two pseudogenes on chromosome 13 |
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| No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers |
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| Assignment of the human ST2 gene to chromosome 2 at q11.2 |
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| Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR |
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| The human lanosterol synthase gene maps to chromosome 21q22.3 |
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| A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene |
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| Localization of the human RGR opsin gene to chromosome 10q23 |
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| Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of Ì-calpain as the multiple endocrine neoplasia type 1 gene |
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| Hereditary ceruloplasmin deficiency with hemosiderosis |
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| Distribution and frequency of a polymorphic Alu insertion at the plasminogen activator locus in humans |
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| Localization of the human vascular endothelial growth factor gene, VEGF , at Chromosome 6p12 |
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| A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus |
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| Wilson disease mutations associated with uncommon haplotypes in mediterranean patients |
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| Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene |
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| A molecular anatomical analysis of mosaic trisomy 16 |
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| CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France |
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| Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes |
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| Latent chromosomal instability in cancer patients |
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| Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus |
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|
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| Untangling genetic influences on smoking, body mass index and longevity: a multivariate study of 2464 Danish twins followed for 28 years |
|
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|
✓ |
|
Danish |
| Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism |
|
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|
|
| Are men carrying the apolipoprotein ε4- or ε2 allele less fertile than ε3ε3 genotypes? |
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|
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| The apolipoprotein E polymorphism in Greenland Inuit in its global perspective |
|
|
|
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|
✓ |
|
Greenland Inuit |
| Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene |
|
|
|
|
|
|
|
|
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| Possible genetic heterogeneity in the Saethre-Chotzen syndrome |
|
|
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|
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| Substitution of glycine-661 by serine in the α1(I) and α2(I) chains of type I collagen results in different clinical and biochemical phenotypes |
|
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|
|
|
|
| Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France |
|
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|
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| Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2 |
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|
|
|
|
| A novel (TA) n polymorphism in the hexokinase II gene: application to noninsulin-dependent diabetes mellitus in the Pima Indians |
|
|
|
|
|
|
✓ |
|
Pima Indians |
| A solitary human H3 histone gene on chromosome 1 |
|
|
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|
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|
|
|
|
| Proportion of the GSTM1 0/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases |
|
|
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|
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|
✓ |
|
Slavic populations |
| The enigma of common fragile sites |
|
|
|
|
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|
|
|
|
| Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy |
|
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|
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| A jumping Robertsonian translocation: a molecular and cytogenetic study |
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| Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis |
|
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|
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| Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis |
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|
|
|
| Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli |
|
|
|
|
|
|
|
|
|
| A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family |
|
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|
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|
|
|
| The gene for X-linked hypophosphataemic rickets maps to a 200-300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE) |
|
|
|
|
|
|
|
|
|
| A new base substitution in the 5′ regulatory region of the human A γ globin gene is linked with the β S gene |
|
|
|
|
|
|
|
|
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| No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma |
|
|
|
|
|
|
|
|
|
| Objective analysis of centromere separation |
|
|
|
|
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|
|
|
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| An analysis of Xq deletions |
|
|
|
|
|
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|
|
|
| A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone |
|
|
|
|
|
|
|
|
|
| An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite |
|
|
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|
|
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|
|
|
| Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map |
|
|
|
|
|
|
|
|
|
| Novel trinucleotide deletion in Fabry's disease |
|
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|
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| Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q |
|
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|
|
| Dombrock blood group (DO): assignment to chromosome 12p |
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|
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| Amplified product length polymorphism (APLP): a novel strategy for genotyping the ABO blood group |
|
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|
|
|
|
|
| Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene |
|
|
|
|
|
|
|
|
|
| The IGHG3 gene shows a structural polymorphism characterized by different hinge lengths: sequence of a new 2-exon hinge gene |
|
|
|
|
|
|
|
|
|
| A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema |
|
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|
|
|
|
|
| YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome |
|
|
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|
|
|
|
| Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis |
|
|
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|
|
| Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test |
|
|
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|
|
| A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion |
|
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|
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|
|
| Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins |
|
|
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|
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|
|
| Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia |
|
|
|
|
|
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|
|
| X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis |
|
|
|
|
|
|
✓ |
|
Greenlandic |
| Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation |
|
|
|
|
|
|
|
|
|
| Systematic screening for mutations in the human serotonin-2A (5-HT 2A ) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia |
|
|
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|
|
|
|
| Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR |
|
|
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|
|
|
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|
|
| β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients |
|
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|
|
|
|
|
|
| OB gene not linked to human obesity in Mexican American affected sib pairs from Starr County, Texas |
|
|
|
|
|
|
|
|
|
| Prevalence of ?F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring |
|
|
|
|
|
|
|
|
|
| Localization of the human phosphotyrosine phosphatase-related genes (h-PRL-1) to chromosome bands 1p35-p34, 17q12-q21, 11q24-q25 and 12q24 |
|
|
|
|
|
|
|
|
|
| Association between the PI*M3 allele of α1-antitrypsin and Alzheimer's disease? A preliminary report |
|
|
|
|
|
|
|
|
|
| Localization of the human HuR gene to chromosome 19p13.2 |
|
|
|
|
|
|
|
|
|
| Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients |
|
|
|
|
|
|
|
|
|
| Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient |
|
|
|
|
|
|
|
|
|
| Confirmation of a susceptibility locus on chromosome 13 in Australian breast cancer families |
|
|
|
|
|
|
|
|
|
| A new polymorphism of arylsulfatase A within the coding region |
|
|
|
|
|
|
|
|
|
| Hb Costa Rica or · 2 ‚ 2 77(EF1)His→Arg: the first example of a somatic cell mutation in a globin gene |
|
|
|
|
|
|
|
|
|
| High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994 |
|
|
|
|
|
|
|
|
|
| Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels |
|
|
|
|
|
|
|
|
|
| Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region |
|
|
|
|
|
|
|
|
|
| Extreme variant of the short arm of chromosome 15 |
|
|
|
|
|
|
|
|
|
| Identification of a variable number tandem repeat region in the human T cell receptor alpha-delta (TCRAD) locus |
|
|
|
|
|
|
|
|
|
| Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene |
|
|
|
|
|
|
|
|
|
| Molecular mapping of a Yq deletion in a patient with normal stature |
|
|
|
|
|
|
|
|
|
| Twelve amplified and expressed genes localized in a single domain in glioma |
|
|
|
|
|
|
|
|
|
| Microsatellite polymorphism of the α 1 -antichymotrypsin gene locus associated with sporadic Alzheimer's disease |
|
|
|
|
|
|
|
|
|
| X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene |
|
|
|
|
|
|
|
|
|
| A new mechanism in blue cone monochromatism |
|
|
|
|
|
|
|
|
|
| The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt |
|
|
|
|
|
|
|
|
|
| Possible control of dopamine β-hydroxylase via a codominant mechanism associated with the polymorphic (GT) n repeat at its gene locus in healthy individuals |
|
|
|
|
|
|
|
|
|
| Mutation screening of 17 Japanese patients with neuropathic Gaucher disease |
|
|
|
|
|
|
|
|
|
| Microsatellite instability and mutations of p53 and TGF-‚ RII genes in gastric cancer |
|
|
|
|
|
|
|
|
|
| Molecular evidence for human alpha2-HS glycoprotein (AHSG) polymorphism |
|
|
|
|
|
|
|
|
|
| Refined localization of the pyruvate dehydrogenase E1α gene (PDHA1) by linkage analysis |
|
|
|
|
|
|
|
|
|
| Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene |
|
|
|
|
|
|
|
|
|
| Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands |
|
|
|
|
|
|
|
|
|
| Sequence variations in the Fanconi anaemia gene, FAC : pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant |
|
|
|
|
|
|
|
|
|
| Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes |
|
|
|
|
|
|
|
|
|
| Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations |
|
|
|
|
|
|
|
|
|
| An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia |
|
|
|
|
|
|
|
|
|
| DNA polymorphisms and linkage disequilibrium in the angiotensinogen gene |
|
|
|
|
|
|
|
|
|
| Dual localization of the human gene encoding hnRNP I/PTB protein to chromosomes 19p13.3 and 14q23 |
|
|
|
|
|
|
|
|
|
| Complex segregation analysis of non-myoclonic idiopathic generalized epilepsy in families ascertained from probands affected with idiopathic epilepsy with tonic-clonic seizures in Antioquia, Colombia |
|
|
|
|
|
|
|
|
|
| Screening for human mitochondrial DNA polymorphisms with denaturing gradient gel electrophoresis |
|
|
|
|
|
|
|
|
|
| Association between common alleles of the low-density lipoprotein receptor gene region and interindividual variation in plasma lipid and apolipoprotein levels in a population-based sample from Rochest |
|
|
|
|
|
|
|
|
|
| Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype |
|
|
|
|
|
|
|
|
|
| Congenital alacrima in a patient with G (Opitz Frias) syndrome |
|
|
|
|
|
|
|
|
|
| Linkage disequilibrium between the four most common cystic fibrosis mutations and microsatellite haplotypes in the Celtic population of Brittany |
|
|
|
|
|
|
✓ |
|
Celtic population of Brittany |
| Detection of amplified genomic sequences in human small-cell lung carcinoma cells by arbitrarily primed-PCR genomic fingerprinting |
|
|
|
|
|
|
|
|
|
| Low frequency of deletion alleles in patients with steroid 21-hydroxylase deficiency in a Mexican population |
|
|
|
|
|
|
|
|
|
| Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus |
|
|
|
|
|
|
|
|
|
| Detection of a new polymorphism in the plasma-membrane Ca 2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1) |
|
|
|
|
|
|
|
|
|
| Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation |
|
|
|
|
|
|
|
|
|
| Analysis of chromosomal equipment in spermatozoa of a 46,XY/47,XY/+8 male by means of multicolour fluorescent in situ hybridization: confirmation of a mosaicism and evaluation of risk for offspring |
|
|
|
|
|
|
|
|
|
| The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus |
|
|
|
|
|
|
|
|
|
| Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1), population frequencies and lack of association to the low voltage alpha EEG trait |
|
|
|
|
|
|
|
|
|
| Analysis of sex and ΔF508 in single amniocytes using primer extension preamplification |
|
|
|
|
|
|
|
|
|
| Yeast artificial chromosome mapping of the cystinosis locus on chromosome 17p by fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family |
|
|
|
|
|
|
|
|
|
| Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood |
|
|
|
|
|
|
|
|
|
| Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome |
|
|
|
|
|
|
|
|
|
| Sequence-specific and length-dependent interaction of C 2 H 2 zinc fingers and (TA) n microsatellites |
|
|
|
|
|
|
|
|
|
| Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3 |
|
|
|
|
|
|
|
|
|
| Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene |
|
|
|
|
|
|
|
|
|
| Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis |
|
|
|
|
|
|
|
|
|
| A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome |
|
|
|
|
|
|
|
|
|
| Simultaneous detection of structural and numerical chromosome abnormalities in sperm of healthy men by multicolor fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin |
|
|
|
|
|
|
|
|
|
| Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization |
|
|
|
|
|
|
|
|
|
| Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome |
|
|
|
|
|
|
|
|
|
| Alternative splicing of dystrophin exon 4 in normal human muscle |
|
|
|
|
|
|
|
|
|
| A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis |
|
|
|
|
|
|
|
|
|
| A polymorphism but no mutations in the GADD45 gene in breast cancers |
|
|
|
|
|
|
|
|
|
| Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype |
|
|
|
|
|
|
|
|
|
| A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map |
|
|
|
|
|
|
|
|
|
| Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines |
|
|
|
|
|
|
|
|
|
| Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene |
|
|
|
|
|
|
|
|
|
| Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms |
|
|
|
|
|
|
|
|
|
| A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family |
|
|
|
|
|
|
|
|
|
| Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells |
|
|
|
|
|
|
|
|
|
| Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the ‚-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure |
|
|
|
|
|
|
|
|
|
| Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters |
|
|
|
|
|
|
|
|
|
| A novel polymorphism in the coding region of CYBB, the human gp91- phox gene |
|
|
|
|
|
|
|
|
|
| H-Y antigens |
|
|
|
|
|
|
|
|
|
| Allelic association between a Ser-9-Gly polymorphism in the dopamine D3 receptor gene and schizophrenia |
|
|
|
|
|
|
|
|
|
| Geographic distribution and origin of CFTR mutations in Germany |
|
|
|
|
|
|
|
|
|
| Allelic loss of the short arm of chromosome 4 in neuroblastoma suggests a novel tumour suppressor gene locus |
|
|
|
|
|
|
|
|
|
| Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation |
|
|
|
|
|
|
|
|
|
| Linkage of type I diabetes to 15q26 (IDDM3) in the Danish population |
|
|
|
|
|
|
✓ |
|
Danish population |
| Fetal cells in maternal blood: recovery by charge flow separation |
|
|
|
|
|
|
|
|
|
| Antenatal screening and fetal diagnosis of β-thalassemia in a Chinese population: prevalence of the β-thalassemia trait in the Guangzhou area of China |
|
|
|
|
|
|
✓ |
|
Chinese population; Guangzhou area of China |
| Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285 |
|
|
|
|
|
|
|
|
|
| Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? |
|
|
|
|
|
|
|
|
|
| Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy |
|
|
|
|
|
|
|
|
|
| Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish |
|
|
|
|
|
|
|
|
|
| Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations |
|
|
|
|
|
|
✓ |
|
Afrikaner |
| Allelic variants of human calcitonin receptor in the Japanese population |
|
|
|
|
|
|
|
|
|
| Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases |
|
|
|
|
|
|
|
|
|
| Genetic fine mapping of the gene for recessive Stargardt disease |
|
|
|
|
|
|
|
|
|
| Activation status of the X chromosome in human micronucleated lymphocytes |
|
|
|
|
|
|
|
|
|
| Distribution of mosaicism in human placentae |
|
|
|
|
|
|
|
|
|
| Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations |
|
|
|
|
|
|
|
|
|
| Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I) |
|
|
|
|
|
|
|
|
|
| Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism |
|
|
|
|
|
|
|
|
|
| Exclusion of the phosphatidylinositol-specific phospholipase C β3 (PLC β3) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) gene |
|
|
|
|
|
|
|
|
|
| Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion |
|
|
|
|
|
|
|
|
|
| The Ca 2+ -sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism |
|
|
|
|
|
|
|
|
|
| A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis |
|
|
|
|
|
|
|
|
|
| Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients |
|
|
|
|
|
|
|
|
|
| Genetic polymorphisms of the renin-angiotensin system and angiographic extent and severity of coronary artery disease: the CORGENE study |
|
|
|
|
|
|
|
|
|
| Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing |
|
|
|
|
|
|
|
|
|
| Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy |
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| Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32 |
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| Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities |
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| Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13 |
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| A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males |
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| Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes |
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| New mutations in the ataxia telangiectasia gene |
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| A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia |
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| Precise localization of the human gene encoding cell adhesion kinase β (CAKβ/PYK2) to chromosome 8 at p21.1 by fluorescence in situ hybridization |
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| Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan |
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| Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients |
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| Characterization of double minute chromosomes' DNA content in a human high grade astrocytoma cell line by using comparative genomic hybridization and fluorescence in situ hybridization |
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| Secretory phospholipase A 2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis |
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