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Human Genetics - 1997

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Article Title Cauc. White Euro. Other Phrases Used
T A T A T A T A
Behavioral Genetics: Affective Disorders and Schizophrenia
Genetic Counseling and Prenatal Diagnosis. Human Genome Project
Human Evolution
Genetic Manipulations and the Biological Future of the Human Species
The Human Genome: Chromosomes
The Human Genome: Genes and DNA
Gene Action: Genetic Diseases
Introduction
Mutation: Spontaneous Mutation in Germ Cells
Mutation: Somatic Mutation, Cancer, and Aging
Population Genetics: Consanguinity, Genetic Drift
Behavioral Genetics: Research Strategies and Examples
Behavioral Genetics: Differences Between Populations
History of Human Genetics
Formal Genetics of Humans: Modes of Inheritance
Formal Genetics of Humans: Linkage Analysis and Gene Clusters
Formal Genetics of Humans: Multifactorial Inheritance and Common Diseases
Gene Action: Developmental Genetics
Mutation: Induction by Ionizing Radiation and Chemicals
Population Genetics: Description and Dynamics
A 25-kb deletion in the 5′ region of the cytochrome b558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease
DNA polymorphisms in the 5′-flanking region of the human tissue kallikrein gene
Assignment of human genes for β2 and β4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy
Localization of genes encoding two human one-domain members of the AAA family: PSMC5 (the thyroid hormone receptor-interacting protein, TRIP1) and PSMC3 (the Tat-binding protein, TBP1)
Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation
Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype
Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping
The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions
Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families ✓
The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions
A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C
The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 ( SCA1 ) gene in schizophrenic patients
Towards a unified nomenclature describing voltage-gated calcium channel genes
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25
Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype
Reply
The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes
Localisation of the classical DNA satellites on human chromosomes as determined by primed in situ labelling (PRINS)
Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR)
Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation
Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein
A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans
HLA-DRA promoter polymorphism and diversity generation within the immune system
A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
Alu -splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA
Noonan syndrome with cardiac left-sided obstructive lesions
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy
Possible association of the allele status of the CS.7/ Hha I polymorphism 5′ of the CFTR gene with postnatal female survival
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies ✓ Spanish ancestry
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families
X chromosome inactivation and micronuclei in normal and Turner individuals
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia
Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene
Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W
Mermaid: a not-so-new family of human repetitive elements
Homology modelling of the catalytic domain of early mammalian protein C: evolution of structural features
Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G 2 phase chromosomal radiosensitivity of peripheral blood lymphocytes
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA - ) individuals that result in differing biochemical and metabolic phenotypes
A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype
Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese ✓ Chinese
Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene
A novel source of highly specific chromosome painting probes for human karyotype analysis derived from primate homologues
Dinucleotide repeat in the 3′ flanking region provides a clue to the molecular evolution of the Duffy gene
Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene
Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review
Molecular basis of the apolipoprotein H (β 2 -glycoprotein I) protein polymorphism
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12-q13.1 between PLCG1 and D20S17
Whither Down syndrome critical regions?
Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis ✓ French
Regional distribution of β-thalassemia mutations in India
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids
Double trisomy in spontaneous abortions
Expected effects of mass screening policies on the frequency of cystic fibrosis homozygotes
Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal
The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q ✓ Ashkenazi-American
Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue
α-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations
Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21
Genetic variation of the 5-HT 2A receptor gene and bipolar affective disorder
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1
Two novel PAH gene mutations detected in Italian phenylketonuric patients ✓ Italian
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25
Identification of an HD patient with a (CAG) 180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage
Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH
How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse ( Peromyscus maniculatus )
Clinical and genetic heterogeneity in Meckel syndrome
Mutation detection in FGFR2 craniosynostosis syndromes
Laryngeal and oropharyngeal cancer, and alcohol dehydrogenase 3 and glutathione S-transferase M1 polymorphisms
Mapping of the human adenosine A 2a receptor gene: relationship to potential schizophrenia loci on chromosome 22q and exclusion from the CATCH 22 region
DNA polymorphisms in the 5′-flanking region of the human tissue kallikrein gene
Alphoid variant-specific FISH probes can distinguish autosomal meiosis I from meiosis II non-disjunction in human sperm
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis
Incidence of the mucopolysaccharidoses in Northern Ireland
Transmission distortion of the mutant alleles in spinocerebellar ataxia
Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study
Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions
Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease
Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP
Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata
Molecular basis of α-thalassemia in Sicily
Microdeletion 22q11 in complex cardiovascular malformations
Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter's karyotype: a FISH analysis
Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations
TRP64ARG β3-adrenergic receptor and obesity in Mexican Americans ✓ Mexican Americans
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2
Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy
New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles
Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping
Insulin receptor substrate-1 gene variants in lipoatrophic diabetes mellitus and non-insulin-dependent diabetes mellitus: a study of South African black and white subjects ✓ ✓ black
The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes
Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2
Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A ( P16INK4A ) gene
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
Genetic fine localization of the β-glucocerebrosidase ( GBA ) and prosaposin ( PSAP ) genes: implications for Gaucher disease
Assignment of human genes for β2 and β4 subunits of voltage-dependent Ca
Evidence for balancing of KM, but not GM, alleles by heterotic advantage in South Amerinds
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)
Two SRY -negative XX male brothers without genital ambiguity
A missense mutation in Col1A1 in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE ✓ Jewish Israeli
Assignment of human plasma methylumbelliferyl-tetra-N-acetylchitotetraoside hydrolase or chitinase to chromosome 1q by a linkage study
A 25-kb deletion in the 5′ region of the cytochrome b
Angiotensin-converting enzyme (ACE) gene polymorphisms in patients characterised by coronary angiography
Mitochondrial DNA variation and the origin of the Europeans ✓ Europeans
The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3
Identification of novel 'expressed sequence tags' within the FHIT gene locus in human chromosome region 3p14.2
Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene
Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous
Gene structure and allelic expression assay of the human GLI3 gene
Clonal chromosome aberrations are present in vivo in synovia and osteophytes from patients with osteoarthritis
Analysis of helicase gene mutations in Japanese Werner's syndrome patients
Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations
Toward a multicolor chromosome bar code for the entire human karyotype by fluorescence in situ hybridization
Evidence of a third locus in X-linked recessive spastic paraplegia
Removal of repetitive sequences from FISH probes using PCR-assisted affinity chromatography
Y chromosome polymorphisms in Native American and Siberian populations: identification of Native American Y chromosome haplotypes
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the β subunit gene ( PHKB )
The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21
High-resolution comparative hybridization to combed DNA fibers
β-Thalassemia and β A globin gene haplotypes in Mexican mestizos
Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus ✓ Maghrebian patients
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
Chromosomal instability in a woman with infertility and two unaffected brothers: a new familial chromosomal breakage syndrome?
Mapping of the gene encoding the B56β subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (
Isolation by distance in Germany
Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel
Microsatellite polymorphism in the human heme oxygenase-1 gene promoter and its application in association studies with Alzheimer and Parkinson disease
Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22
Trinucleotide repeats (CGG) 22 TGG(CGG) 43 TGG(CGG) 21 from the fragile X gene remain stable in transgenic mice
A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11
Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts
The human lysyl oxidase-like gene maps between STS markers D15S215 and GHLC.GCT7C09 on chromosome 15
Phenotype-genotype correlation in haemochromatosis subjects
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epider
Human centromeric DNAs
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation
Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients
Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women
Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG) n tracts
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique
Interethnic polymorphism of EWS intron 6: genome plasticity mediated by Alu retroposition and recombination
Molecular analysis of the ß-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance
Search for the optimal fetal cell antibody: results of immunophenotyping studies using flow cytometry
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome
High-throughput analysis of Fragile X (CGG) n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis
Evidence for convergent evolution of A and B blood group antigens in primates
A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region
An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants
Polyclonal origin of medullary carcinoma of the thyroid in multiple endocrine neoplasia type 2
Meiotic behaviour of sex chromosomes investigated by three-colour FISH on 35 142 sperm nuclei from two 47,XYY males
Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493)
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome
Codon-usage variants in the polymorphic (GGN) n trinucleotide repeat of the human androgen receptor gene
RB1 deletion in gonadoblastoma in an XY female
Genetic linkage study of a major susceptibility locus (D2S125) in a British population of non-insulin dependent diabetic sib-pairs using a simple non-isotopic screening method ✓ British population
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene
Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents
Interstitial telomeric sequences at the junction site of a jumping translocation
Association of polymorphism at COL3A and CTLA4 loci on chromosome 2q31-33 with the clinical phenotype and in-vitro CMI status in healthy and leprosy subjects: a preliminary study
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity
Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
Identification of novel mutations in the human EXT1 tumor suppressor gene
Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples ✓ Mediterranean
Frequent gains on chromosome arms 1q and/or 8q in human endometrial cancer
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
Minimum sample sizes for identifying chromosomal fragile sites from individuals: Monte Carlo estimation
ACP1 and human adaptability 2. Association with season of conception
Determination of the origin of single nucleated cells in maternal circulation by means of random PCR and a set of length polymorphisms
The involvement of Alu repeats in recombination events at the α-globin gene cluster: characterization of two α°-thalassaemia deletion breakpoints
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene
A second family with XLRH displays the mutation S244L in the CLCN5 gene
Phenylketonuria and the peoples of Northern Ireland
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region
Asynchronous replication of p53 and 21q22 loci in chronic lymphocytic leukemia
Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population ✓ Asian Indian; Japanese
Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations
Isolation and characterization of new microsatellites at the nm23-H1 and nm23-H2 gene loci and application for loss of heterozygosity (LOH) analysis
Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from Southern Brazil: the Kaingang and the Guarani
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes
Genetic markers for glutamic acid decarboxylase do not predict insulin-dependent diabetes mellitus in pairs of affected siblings
Differential loss of heterozygosity in familial, sporadic, and uremic hyperparathyroidism
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization
Studies of the CAG repeat in the Machado-Joseph disease gene in Taiwan
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis
Localisation and distance between ABL and BCR genes in interphase nuclei of bone marrow cells of control donors and patients with chronic myeloid leukaemia
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA
Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region
DNA multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus
A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis
α-Satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues
cDNAs with long CAG trinucleotide repeats from human brain
Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus
Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)
Identification of a four-base deletion (delTCAT 296-299 ) in the dihydropyrimidine dehydrogenase gene with variable clinical expression
Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP
Alternative splicing of hMSH2 in normal human tissues
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype
Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei
Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern
Identical mutations and phenotypic variation
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients
AFX1 and p54 nrb : fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism
The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13
Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3
New p57 KIP2 mutations in Beckwith-Wiedemann syndrome
The human cornea has a high incidence of acquired chromosome abnormalities
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients
Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany
Putative association of a mutant ROM1 allele with retinitis pigmentosa
An unusual combined insertion/deletion polymorphism in intron 10 of the human complement C6 gene
Angiotensinogen and angiotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese ✓ Chinese
Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome
The spatial distribution of human immunoglobulin genes within the nucleus: evidence for gene topography independent of cell type and transcriptional activity
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1
Markers for the gene ob and serum leptin levels in human morbid obesity
Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics
Molecular cloning of the breakpoints of the hereditary persistence of fetal hemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3′ end of the β-globin gen
The Arg 192 isoform of paraoxonase with low sarin-hydrolyzing activity is dominant in the Japanese
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping
A splicing mutation in RB1 in low penetrance retinoblastoma
Pepsinogen polymorphism in the Indian population and its association with duodenal ulcer
A missense mutation in the FALDH gene identified in Sj�gren-Larsson syndrome patients originating from the northern part of Sweden
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects ✓ ✓ European-American; African-American; Japanese
Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle
A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency
Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer
Two different 5′ splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities
A family exhibiting heteroplasmy in the human mitochondrial DNA control region reveals both somatic mosaicism and pronounced segregation of mitotypes
Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families
Analysis of the transcriptional activity of amplified genes in tumour cells by fluorescence in situ hybridization
Association of transferrin C2 allele with late-onset Alzheimer's disease
Spontaneous and induced aneuploidy in peripheral blood lymphocytes of patients with Alzheimer's disease
A human UPD-GalNAc: polypeptide, N -acetylgalactosaminyltranferase type 1 gene is located at the chromosomal region 18q12.1
The mapping and visual ordering of the human syndecan-1 and N- myc genes near the telomeric region of chromosome 2p
Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia
Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome
Different entities of proximal spinal muscular atrophy within one family
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses
Isolation of a cDNA encoding the human homolog of COX17 , a yeast gene essential for mitochondrial copper recruitment
Genomic organization and chromosomal localization of the human casein gene family
Genetic variations at the T cell receptor γ locus in circulating peripheral blood mononuclear cells of clinically categorised leprosy patients
No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome ✓ Jewish Ashkenazi
Chromosomal localization of the type-I 15-PGDH gene to 4q34-q35
Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH)
The identification of a (CGG) 6 AGG insertion within the CGG repeat of the FMR1 gene in Asians ✓ Asians
Supernumerary nipples occurring together with Becker's naevus: an association involving one common paradominant trait?
Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S
Suggestive evidence for linkage of schizophrenia to markers on chromosome 13 in Caucasian but not Oriental populations ✓ ✓ Oriental populations
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients
Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15
Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis
Mistyping frequency of the angiotensin-converting enzyme gene polymorphism and an improved method for its avoidance
CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds
Sex chromosomes and human growth
Coding versus intron variability: extremely polymorphic HLA-DRB1 exons are flanked by specific composite microsatellites, even in distant populations
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
Discriminating between allelic and interlocus differences among human immunoglobulin V H 4 sequences by analyzing single spermatozoa
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet
Fine mapping of the MLK-3 gene within 11q13 and its exclusion as the MEN1 susceptibility gene
Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene
Hb Lepore-Baltimore (δ 68Leu -β 84Thr ) and Hb Lepore-Washington-Boston (δ 87Gln -β IVS-II-8 ) in Central Portugal and Spanish Alta Extremadura
The role of oxygen metabolism for the pathological phenotype of Fanconi anemia
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance
Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15
Inv(10)(p11.2q21.2), a variant chromosome
Familial Mediterranian fever: clastogenic plasma factors correlated with increased O 2 - - production by neutrophils
The human histone gene cluster at the D6S105 locus
B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A
nm23 -H4, a new member of the family of human nm23 /nucleoside diphosphate kinase genes localised on chromosome 16p13
Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria
Close physical linkage of the genes encoding the pNR-2/pS2 protein and human spasmolytic protein (hSP)
Dual blastomere analysis improves reliability of preimplantation trembler mouse diagnosis
A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes
Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus