| Segregation analysis of serum uric acid in the NHLBI Family Heart Study |
|
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|
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| Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families |
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| Genetics of molybdenum cofactor deficiency |
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| Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features |
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| Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation |
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|
|
|
| Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients |
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| Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats |
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| Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII |
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|
| Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene |
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| Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype |
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|
| Molecular analysis of the genotype-phenotype relationship in factor X deficiency |
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| Gene organization and rearrangements at the human Rhesus blood group locus revealed by fiber-FISH analysis |
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|
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| An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype |
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| Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization |
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|
|
| SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome |
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|
|
| Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism |
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| Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance |
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| Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21 |
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| A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals |
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| Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene |
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|
|
| Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan |
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| A simple and accurate method for determination of microsatellite total allele content differences between DNA pools |
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| Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization |
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| Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients |
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| Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation |
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|
|
| Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population |
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| Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain |
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| Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene |
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| Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome |
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| Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22 |
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| Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A) |
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|
|
| Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population |
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|
✓ |
|
Japanese population |
| Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (
ψ
GLDC): their structure and expression, and the identification of a l |
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| A fragile X case with an amplification/deletion mosaic pattern |
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| Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes |
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| Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs |
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| A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations |
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| Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis |
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| Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation |
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|
| The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population |
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| Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3) |
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|
|
| Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection |
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| Congenital cataracts: gene mapping |
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| SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers |
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| The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3 |
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|
|
| Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13 |
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| A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract |
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| A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden |
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|
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| Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13 |
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|
|
| Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease |
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|
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| Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction |
|
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| Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic |
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|
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| Association of the low-density lipoprotein receptor gene with obesity in Native American populations |
|
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| Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III |
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|
|
| Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception |
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|
|
| Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis |
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|
|
| Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay |
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|
|
| Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3 |
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|
|
| Gene structures of the human non-neuronal monoamine transporters EMT and OCT2 |
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|
|
| Molecular genetic analysis of severe protein C deficiency |
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| Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV |
|
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|
|
| The ALDH2 genotype, alcohol intake, and liver-function biomarkers among Japanese male workers |
|
|
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|
|
| Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region |
|
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|
|
|
|
|
|
| Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of |
|
|
|
|
|
|
✓ |
|
nine ethnic populations of eastern India |
| Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis |
|
|
|
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|
|
| Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31 |
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|
|
| Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin |
|
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|
|
| Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community |
|
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|
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|
|
| Characterization and localization of human COX17, a gene involved in mitochondrial copper transport |
|
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|
|
| Microscopic assessment of pronuclear embryos is not definitive |
|
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|
|
|
|
|
|
| Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals |
|
|
|
|
|
|
|
|
|
| Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours |
|
|
|
|
|
|
|
|
|
| Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3 |
|
|
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|
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|
|
|
|
| Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort |
|
|
|
|
|
|
|
|
|
| Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1 |
|
|
|
|
|
|
|
|
|
| Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy |
|
|
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|
|
|
|
|
|
| Effect of nonsense mutations on PTEN mRNA stability |
|
|
|
|
|
|
|
|
|
| Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment |
|
|
|
|
|
|
|
|
|
| Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect |
|
|
|
|
|
|
|
|
|
| Familial typical migraine: significant linkage and localization of a gene to Xq24–28 |
|
|
|
|
|
|
|
|
|
| An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family |
|
|
|
|
|
|
✓ |
|
Finnish family |
| MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions |
|
|
|
|
|
|
|
|
|
| Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the genotype-phenotype relationship in factor VII deficiency |
|
|
|
|
|
|
|
|
|
| Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe |
|
|
|
|
|
|
✓ |
|
Central and East Europe; Slavic origin |
| Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene |
|
|
|
|
|
|
|
|
|
| Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia |
|
|
|
|
|
|
|
|
|
| Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases |
|
|
|
|
|
|
|
|
|
| CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency |
|
|
|
|
|
|
|
|
|
| Association of butyrylcholinesterase K variant with cholinesterase-positive neuritic plaques in the temporal cortex in late-onset Alzheimer's disease |
|
|
|
|
|
|
|
|
|
| Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei |
|
|
|
|
|
|
|
|
|
| The photoreceptor cell-specific nuclear receptor gene ( PNR ) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition |
|
|
|
|
|
|
✓ |
|
Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition |
| Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study |
|
|
|
|
|
|
|
|
|
| Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital |
|
|
|
|
|
|
|
|
|
| Mutation analysis in glycogen storage disease type 1 non-a |
|
|
|
|
|
|
|
|
|
| Anticipation in familial Hodgkin's lymphoma |
|
|
|
|
|
|
|
|
|
| Absence of trabecular meshwork-inducible stretch response ( TISR )/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients |
|
|
|
|
|
|
|
|
|
| Identification of an intronic regulatory element in the human protein C ( PROC) gene |
|
|
|
|
|
|
|
|
|
| Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome? |
|
|
|
|
|
|
|
|
|
| Refined localization of a gene for pediatric gastroesophageal reflux makes HTR2A an unlikely candidate gene |
|
|
|
|
|
|
|
|
|
| Y chromosome haplotypes reveal prehistorical migrations to the Himalayas |
|
|
|
|
|
|
|
|
|
| The Frequency of Inherited Disorders Database |
|
|
|
|
|
|
|
|
|
| Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population |
|
|
|
|
|
|
|
|
|
| High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews |
|
|
|
|
|
|
|
|
|
| Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination |
|
|
|
|
|
|
|
|
|
| Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients |
|
|
|
|
|
|
✓ |
|
Italian |
| Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia |
|
|
|
|
|
|
|
|
|
| Application of different genetic distance methods to microsatellite data |
|
|
|
|
|
|
|
|
|
| High frequency hearing loss correlated with mutations in the GJB2 gene |
|
|
|
|
|
|
|
|
|
| Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies |
|
|
|
|
|
|
|
|
|
| The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease |
|
|
|
|
|
|
|
|
|
| Molecular genetic advances in tuberous sclerosis |
|
|
|
|
|
|
|
|
|
| Fusion of 9 beta-satellite and telomere (TTAGGG) n sequences results in a jumping translocation |
|
|
|
|
|
|
|
|
|
| Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome |
|
|
|
|
|
|
|
|
|
| Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer |
|
|
|
|
|
|
|
|
|
| Genomic structure of the human Ah receptor nuclear translocator gene ( hARNT ) |
|
|
|
|
|
|
|
|
|
| Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene |
|
|
|
|
|
|
|
|
|
| Age- and tissue-specific variation of X chromosome inactivation ratios in normal women |
|
|
|
|
|
|
|
|
|
| Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy |
|
|
|
|
|
|
|
|
|
| Complex adaptive systems and human health: the influence of common genotypes of the apolipoprotein E ( ApoE ) gene polymorphism and age on the relational order within a field of lipid metabolism trait |
|
|
|
|
|
|
|
|
|
| Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis |
|
|
|
|
|
|
|
|
|
| Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen |
|
|
|
|
|
|
|
|
|
| Human variant glucose-6-phosphate transporter is active in microsomal transport |
|
|
|
|
|
|
|
|
|
| Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy |
|
|
|
|
|
|
|
|
|
| Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family |
|
|
|
|
|
|
|
|
|
| Multiple origins of Tibetan Y chromosomes |
|
|
|
|
|
|
|
|
|
| Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients |
|
|
|
|
|
|
|
|
|
| Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families |
|
|
|
|
|
|
|
|
|
| Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms |
|
|
|
|
|
|
✓ |
|
African; Afro-Caribbean ethnic groups |
| Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies |
|
|
|
|
|
|
|
|
|
| Inheritance of heart rate variability: the kibbutzim family study |
|
|
|
|
|
|
|
|
|
| Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13 |
|
|
|
|
|
|
|
|
|
| Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis |
|
|
|
|
|
|
|
|
|
| Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles |
|
|
|
|
|
|
|
|
|
| Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2) |
|
|
|
|
|
|
|
|
|
| Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia |
|
|
|
|
|
|
|
|
|
| Association of ACE I/D polymorphism with cardiovascular risk factors |
|
|
|
|
|
|
|
|
|
| Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency |
|
|
|
|
|
|
|
|
|
| Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure |
|
|
|
|
|
|
|
|
|
| Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels |
|
|
|
|
|
|
|
|
|
| In-frame deletions of BRCA1 may define critical functional domains |
|
|
|
|
|
|
|
|
|
| Components of the human spindle checkpoint control mechanism localize specifically to the active centromere on dicentric chromosomes |
|
|
|
|
|
|
|
|
|
| Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs |
|
|
|
|
|
|
|
|
|
| Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools |
|
|
|
|
|
|
|
|
|
| Association analysis of GABA A β2 and γ2 gene polymorphisms with event-related prefrontal activity in man |
|
|
|
|
|
|
|
|
|
| Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda |
|
|
|
|
|
|
|
|
|
| The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia |
|
|
|
|
|
|
|
|
|
| Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene |
|
|
|
|
|
|
|
|
|
| Genetic distances and microsatellite diversification in humans |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene |
|
|
|
|
|
|
|
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| Association studies of 33 single nucleotide polymorphisms (SNPs) in 29 candidate genes for bronchial asthma: positive association of a T924C polymorphism in the thromboxane A2 receptor gene |
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| Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH |
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| Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies |
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| Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency |
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| Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women |
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| Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer |
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| Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 |
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| Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians |
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| Genetic background of apparently idiopathic sporadic cerebellar ataxia |
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| Genetic association studies of bronchial asthma – a need for Bonferroni correction? |
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| Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene |
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| Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations |
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| Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits |
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| Allelic loss at the neurofibromatosis type 1 ( NF1 ) gene locus is frequent in desmoplastic neurotropic melanoma |
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| Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development |
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| Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID) |
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| Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene |
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| Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer |
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| Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours |
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| Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions |
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| High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC) |
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| Interchromosomal insertions |
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| Evolutionary history of the mtDNA 9-bp deletion in Chinese populations and its relevance to the peopling of east and southeast Asia |
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| Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma |
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| Multilocus genetic analysis of single interphase cells by spectral imaging |
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| Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium? |
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| Fine-mapping of the type 1 diabetes locus ( IDDM4 ) on chromosome 11q and evaluation of two candidate genes ( FADD and GALN ) by affected sibpair and linkage-disequilibrium analyses |
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| Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients |
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| Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13 |
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| Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes |
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| Fine mapping of the constitutional translocation t(11;22)(q23;q11) |
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| Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer |
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| Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor ( c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT) |
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| The identical 5? splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect |
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| Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments |
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| Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene |
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| Real-time quantitative polymerase chain reaction |
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| Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE) |
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| Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1 |
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| Inheritance of heart rate variability: the kibbutzim family study |
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| Physical mapping of the human |
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| Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3 |
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| Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction |
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| Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours |
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| Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals |
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| Association of the low-density lipoprotein receptor gene with obesity in Native American populations |
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| Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain |
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| Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of |
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| Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism |
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| The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3 |
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| Congenital cataracts: gene mapping |
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| MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions |
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| Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats |
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| Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families |
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| Molecular genetic analysis of severe protein C deficiency |
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| Meiotic segregation analysis of a 14;21 Robertsonian translocation carrier by fluorescence in situ hybridization |
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| Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients |
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| Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients |
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| Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs |
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| British Human Genetics Conference¶Including a One-Day Joint Symposium "Technologics in Genome Analysis" with the Genetical Society on Wednesday 13 September |
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| Effect of nonsense mutations on PTEN mRNA stability |
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| Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes |
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| Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation |
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| A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals |
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| Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome |
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| Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1 ; relevance for mutation detection |
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| Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population |
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| Microscopic assessment of pronuclear embryos is not definitive |
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| Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies |
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| Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay |
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| Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene |
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| Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community |
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| An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family |
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✓ |
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Finnish family |
| Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13 |
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| Analysis of genetic polymorphisms in the transforming growth factor-?1 gene and the risk of Alzheimer's disease |
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| The ALDH2 genotype, alcohol intake, and liver-function biomarkers among Japanese male workers |
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| Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3 |
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| A simple and accurate method for determination of microsatellite total allele content differences between DNA pools |
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| Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A) |
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| Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect |
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| Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan |
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| Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene ( HPD ) in patients with tyrosinemia type III |
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| Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene |
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| Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance |
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| Human glycine decarboxylase gene ( GLDC) and its highly conserved processed pseudogene ( ψ GLDC) : their structure and expression, and the identification of a large deletion in a family with nonketoti |
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| Structure and polymorphism of the human gene for the interferon-induced p78 protein ( MX1 ): evidence of association with alopecia areata in the Down syndrome region |
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| Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation |
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| Familial typical migraine: significant linkage and localization of a gene to Xq24-28 |
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| A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden |
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| Genetics of molybdenum cofactor deficiency |
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| Molecular analysis of the genotype-phenotype relationship in factor X deficiency |
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| Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic |
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| An Alu -mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype |
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| Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21 |
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| A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract |
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| Gene structures of the human non-neuronal monoamine transporters EMT and OCT2 |
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| Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation |
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| Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV |
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| Acquired pericentric inversion of chromosome 9 in essential thrombocythemia |
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| Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA 3 ) |
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| SOX14 is a candidate gene for limb defects associated with BPES and M�bius syndrome |
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| Erratum to Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families |
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| The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population |
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| Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy |
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| Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population |
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| Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13 |
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| Segregation analysis of serum uric acid in the NHLBI Family Heart Study |
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| SEL1L , the human homolog of C. elegans sel-1 : refined physical mapping, gene structure and identification of polymorphic markers |
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| Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment |
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| Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin |
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| Characterization and localization of human COX17, a gene involved in mitochondrial copper transport |
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| Variant detection at the ? opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence |
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| Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception |
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| Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis |
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| Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort |
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| A fragile X case with an amplification/deletion mosaic pattern |
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| Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis |
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| Genomic rearrangements of the |
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| Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization |
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| Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features |
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| A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations |
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| Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype |
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| Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22 |
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| Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII |
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| Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31 |
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| Gene organization and rearrangements at the human Rhesus blood group locus revealed by fiber-FISH analysis |
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