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Human Genetics - 1998

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Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene
Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene
Mutations in the gene for the common gamma chain (γc) in X-linked severe combined immunodeficiency
A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features
Confirmation of FWT1 as a Wilms’ tumour susceptibility gene and phenotypic characteristics of Wilms’ tumour attributable to FWT1
Localisation of receptor interacting protein140 ( RIP140 ) within 100kb of D21S13 on 21q11, a gene-poor region of the human genome
Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene
Polarity of mutations in tumor-associated microsatellite instability
UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients
Erratum: Hum Genet (1998) 102 : 571–575
Variation of site-specific methylation patterns in the factor VIII ( F8C ) gene in human sperm DNA
The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type
The origins of Native Americans: evidence from anthropological genetics: Michael H. Crawford Cambridge University Press (308 pages), ISBN 0-521-59280-1, US $ 64.95, Hardcover
The structures of the human neuronal nicotinic acetylcholine receptor β2- and α3-subunit genes ( CHRNB2 and CHRNA3 )
Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family ✓ North African
High frequency of polymorphism but no mutations found in the GLUT1 glucose transporter gene in NIDDM and familial obesity by SSCP analysis
Assessment of autosome and gonosome disomy in human sperm nuclei by chromosome painting
Identification, localization and characterization of the human γ-synuclein gene
Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene ✓ Arab Palestinian families
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A -12 →G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease ty
Polymorphism of the HLA class II loci in Siberian populations
The Cretan type of non-deletional hereditary persistence of fetal hemoglobin [Aγ–158C→T] results from two independent gene conversion events
Principles of molecular medicine: J. Larry Jameson (Editor) Humana Press (1156 pages), ISBN 0-896-03529-8, US $175, Hardcover
Relaxation of imprinting in Prader-Willi syndrome
Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method
A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations
Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene
Genomic structure of the human ezrin gene
Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3
Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions
Gene symbol: PKD1 Disease: Polycystic kidney disease
In vivo somatic mutations in Werner's syndrome
Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger
Human Gene Mutations
A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus
Breast cancer risk assessment: use of complete pedigree information and the effect of misspecified ages at diagnosis of affected relatives
Identification of a novel splicing mutation and 1-bp deletion in the 17α-hydroxylase gene of Japanese patients with 17α-hydroxylase deficiency
Genetic engineering with PCR: R. M. Horton and R. C. Tait (Editors)
Telomeres, hidden mosaicism, loss of heterozygosity, and complex genetic traits
Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3'-splice site selection and cause Sandhoff disease
Gene Symbol: NF2 Disease: Neurofibromatosis 2
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome
Eratum: Hum Genet (1998) 102: 145-150
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
Editorial
Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17)
A novel locus for Leber congenital amaurosis on chromosome 14q24
Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
Comments on the letter of Toncheva and Nacheva concerning our paper “Latent chromosomal instability in cancer patients”
Increased rate of nondisjunction in sex cells derived from low-quality semen
The NIK protein kinase and C17orf1 genes: chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17
A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands ✓ Greek
A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities
A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b 558 in atypical X-linked chronic granulomatous disease
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34
X chromosome-inactivation patterns in patients with Rett syndrome
Three novel KCNA1 mutations in episodic ataxia type I families
Familial aggregation of heart rate variability based on short recordings - the kibbutzim family study
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria
Cloning and tissue expression of cDNAs from chromosome 5q21-22 which is frequently deleted in advanced lung cancer
Retroviral gene transfer for the assignment of Fanconi anemia (FA) patients to a FA complementation group
Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q
Absence of association between a mitochondrial DNA mutation at nucleotide position 3243 and schizophrenia in Japanese
Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa ✓ African (Xhosa) population
Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome ✓ Japanese
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes
Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
Inheritance of chronic tension-type headache investigated by complex segregation analysis
The 3? breakpoint of the Yunnanese ( A ???) 0 -thalassemia deletion lies in an L1 family sequence: implications for the mechanism of deletion and the reactivation of the G ?-globin gene
Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population ✓ Spanish Gypsy population
Structure of the human amyloid-precursor-like protein gene APLP1 at 19q13.1
A study of females with deletions of the short arm of the X chromosome
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias
Polymorphism in the FMR1 gene
Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes
Mutations in the gene for the common gamma chain (γ
Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33
Erratum: Hum Genet (1996) 98: 430-436
Erratum: Hum Genet (1998) 103 : 96-101
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin
A functional polymorphism in the monoamine oxidase A gene promoter
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients
Identification of CpG islands hypermethylated in human lung cancer by the arbitrarily primed-PCR method
A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese ✓ Japanese
Genetic structure of five susceptibility gene regions for coronary artery disease: disequilibria within and among regions
High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative
Human cytogenetic cancer markers: Sandra R. Wolman and Stewart Sell (Editors)
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility
Genomic organization and mutational analysis of HERG , a gene responsible for familial long QT syndrome
FISH studies of the sperm of fathers of paternally derived cases of trisomy 21: no evidence for an increase in aneuploidy
Elucidation of the exon-intron structure and size of the human protein kinase C beta gene ( PRKCB )
Linkage between atopy and the IgE high-affinity receptor gene at 11q13 in atopic dermatitis families
Gene symbol: COL11A1 Disease: Marshall Syndrome
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11
No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins
Molecular characterization and delineation of subtle deletions in de novo “balanced” chromosomal rearrangements
Chromosomal instability in cancer patients
Gene symbol: NF2
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis
Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5 ✓ Japanese
The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1
Multiple testing in fetal gender determination from maternal blood by polymerase chain reaction
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
Chromosomal mapping of three human LAMMER protein-kinase-encoding genes
Frequency of nucleated red blood cells in maternal blood during the different gestational ages
Subfamilies and nearest-neighbour dendrogram for the LTRs of human endogenous retroviruses HERV-K mapped on human chromosome 19: physical neighbourhood does not correlate with identity level
Novel and recurrent mutations in the PKD1 (Polycystic Kidney disease) gene
Mutational analysis of the GDNF/RET-GDNFRα signaling complex in a kindred with vesicoureteral reflux
Synchrony in telomere length of the human fetus
Five novel missense mutations of the Lewis gene (FUT3) in African (Xhosa) and Caucasian populations in South Africa ✓ ✓ African (Xhosa) populations
Genetics strongly determines the wall thickness of the left and right carotid arteries
A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives
Relationship of the angiotensin-converting enzyme gene polymorphism to glucose intolerance, insulin resistance, and hypertension in NIDDM
DNA polymorphisms and haplotypes in the human transferrin gene
Polymorphic tetranucleotide repeat site within intron 7 of the β-amyloid precursor protein gene and its lack of association with Alzheimer's disease
FRAXE : the Hin dIII/OXE20 restriction polymorphism is not a rare variant
The SOX10 / Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor
Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome
An ecological study of association between coronary heart disease mortality rates in men and the relative frequencies of common allelic variations in the gene coding for apolipoprotein E
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene
Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channel
Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood
The H-cadherin ( CDH13 ) gene is inactivated in human lung cancer
Coping with complexity: lessons from the mathematical sciences
Histone H4 acetylation analyses in patients with polysomy X: implications for the mechanism of X inactivation
Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)
Gene therapy for neurological disorders and brain tumors: E. A. Chiocca and X. O. Breakefield (Editors)
Transmission of mitochondrial DNA heteroplasmy in normal pedigrees
Novel mutations of the peripheral myelin protein22 gene in two pedigrees with Dejerine-Sottas disease
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia typeII
Mutational analysis of the CCR5 and CXCR4 genes (HIV-1 co-receptors) in resistance to HIV-1 infection and AIDS development among intravenous drug users
A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3′ third of the gene ✓ German
Pigmentary mosaicism in hypomelanosis of Ito
Functional analysis of the C(-188)A polymorphism of the human leptin promoter
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family ✓ Chinese
CCG repeats in cDNAs from human brain
Incomplete Eco RI digestion may lead to false diagnosis of fragile X syndrome
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)
Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany
Microsatellite profiles reveal an unexpected genetic relationship between Asian populations
Japanese juvenile retinoschisis is caused by mutations of the
The molecular basis of C6 deficiency in the western Cape, South Africa
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
Distribution of CCR5-delta 32 gene deletion across the Russian part of Eurasia
A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features
The molecular genetics of growth hormone deficiency
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease
Familial clustering of rheumatoid arthritis with other autoimmune diseases
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib
Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status
Structure and dynamics of human interphase chromosome territories in vivo
The mobile nature of acrocentric elements illustrated by three unusual chromosome variants
Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
Absence of human placental lactogen and placental growth hormone (HGH-V) during pregnancy: PCR analysis of the deletion
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis
Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I
Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene
Variability in the serotonin transporter gene and increased risk for major depression with melancholia
Identification of de novo chromosomal markers and derivatives by spectral karyotyping
Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)
Mutations in the pterin-4α-carbinolamine dehydratase ( PCBD ) gene cause a benign form of hyperphenylalaninemia
Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test
Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene ( PDE9A ) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence
Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia ✓ Israeli-Arab kindred
Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome
Elite endurance athletes and the ACE I allele - the role of genes in athletic performance
Negative association between asthma and variants of CC16(CC10) on chromosome 11q13 in British and Japanese populations ✓ British and Japanese populations
Characterization of the human synaptogyrin gene family
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation
The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity: an analytical evaluation
Analysis of HLA-DQ α sequences for prenatal diagnosis in single fetal cells from maternal blood
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
Mental disorders and genetics: the ethical context. Nuffield Council on Bioethics - 1998 Nuffield Council on Bioethics, 28 Bedford Square, London WC 1 3EG, UK (http:/www.nuffield.org),(117 pages), ISB
Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies
Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutation ✓ Mexican population
Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene
Screening with the FMR1 protein test among mentally retarded males
A transcript map of an 800-kb region on human chromosome 11q13, part of the candidate region for SCA5 and BBS1
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease
Interplay between humans and infective agents: a population genetic study
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly
Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor
Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency
New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families
Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH
Molecular analysis of the chromosomal equipment in spermatoza of a 46, XY, t(7;8) (q11.21;cen) carrier by using fluorescence in situ hybridization
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator
Erratum: Hum Genet (1998) 102 : 464–466
ICRF handbook of genome analysis: Nigel K. Spurr, Bryan D. Young, Stephen P. Bryant (Editors)
Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1
Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes
Germ line mosaicism
MTHFR association with arteriosclerotic vascular disease?
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)
Regarding the letter from Dr. Stephen T. Warren of the Emory University School of Medicine concerning our article “Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of frag
Lack of association between human longevity and genetic polymorphisms in drug-metabolizing enzymes at the NAT2, GSTM1 and CYP2D6 loci
Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22
Change of bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes ✓
Telomeric length and telomerase activity vary with age in peripheral blood cells obtained from normal individuals
Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation
Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family
In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules
Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes
Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1
Deletion mapping by FISH with BACs in patients with partial monosomy 22q13
Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country
Drug-selected complete restoration of superoxide generation in Epstein-Barr virus-transformed B cells from p47 phox -deficient chronic granulomatous disease patients by using a bicistronic retrovirus
Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia
Variable number tandem repeat polymorphism of the mucin genes located in the complex on 11p15.5
The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome
The familial adenomatous polyposis region exhibits many different haplotypes
Human Gene Mutations
Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia
Examination of the X chromosome by STS-PCR screening for the presence of submicroscopic deletions
Molecular characterization of phenylketonuria in Japanese patients
Chromosomal fragile site expression in lymphocytes from patients with schizophrenia
Detection of 6q deletions in breast carcinoma cell lines by fluorescence in situ hybridization
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients
Linkage of the apo CIII microsatellite with isolated low high-density lipoprotein cholesterol
Erratum: Hum Genet (1998) 102: 459-463