Clinical Genetics - 2000

189 articles | Last updated: 2025-12-03 14:12:56
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T A T A T A T A
Genetic modification of the human mitotic clock by telomerase: a matter of life and death
Errata
Errata
Improvements in adenoviral vector technology: overcoming barriers for gene therapy
Genetic variants of <i>NRAMP1</i> and active tuberculosis in Japanese populations
A novel mutation (296 del G) of the <i>SOX9</i> gene in a patient with campomelic syndrome and sex reversal
Ventricular septal defect associated with microdeletions of chromosome 22q11.2
Assessment of education and counselling offered by a familial colorectal cancer clinic
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr<sub>302</sub>&gt;Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL<sub>Olbia</sub>) Italian family from Sardinia; Sardinians
Hypogonadotrophic hypogonadism in Roifman syndrome
Hereditary colorectal cancer: risk assessment and management
Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation
Intrachromosomal triplications: molecular cytogenetic and clinical studies
Mild clinical phenotype associated with R1158X/S549R(T→G) CFTR genotype
Parental and meiotic origin of triploidy in the embryonic and fetal periods
Optimization of the fluorescence <i>in situ</i> hybridization (FISH) technique for high detection efficiency of very small proportions of target interphase nuclei
Linkage and candidate gene analysis of autosomal‐dominant familial exudative vitreoretinopathy
Clitoris and labia minora agenesis – an undescribed malformation
Huntington's disease on a GeneChip
An unaffected individual from a breast/ovarian cancer family with germline mutations in both <i>BRCA1</i> and <i>BRCA2</i> Ashkenazi Jewish; referred to as an 'ethnic group'
Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy
Physical activity: good for your health, very good for your gene expression
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel ‘hot spot’ in codon 47
Apolipoprotein B‐100 gene <i>Xba I</i> polymorphism and cholesterol gallstone disease
Oligonucleotide microarrays bring new insights to old mice
Mutations of<i>GJB2</i>in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates
Vertebral anomalies in a new family with ODED syndrome
Pseudoxanthoma elasticum arises from mutations in an ABC transporter family member, <i>ABCC6</i>
A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center
Factors influencing sib risks for Multiple Sclerosis
The molecular regulation of myogenesis
‘Novel’ immunodeficiency syndrome may be a previously described entity
Differentiation of Ambras syndrome from Hypertrichosis Universalis
Rett syndrome: The influence of dysregulated gene slicing
Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY
Genetic landmarks through philately – Jean Martin Charcot (1825–1893) and Charcot–Marie–Tooth disease
Genetic landmarks through philately – Thomas Hunt Morgan (1866–1945)
Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis
Genetic homogeneity of the Camurati–Engelmann disease
What we have learned from the DNA sequences of human chromosomes 21 and 22
Identification of four novel mutations in five unrelated Korean families with Fabry disease
Repairing the genomic defect in muscular dystrophy
Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches
Support for linkage of familial combined hyperlipidemia to chromosome 1q21–q23 in Chinese and German families German; Chinese
Comparison of the role of dopamine, serotonin, and noradrenaline genes in ADHD, ODD and conduct disorder: multivariate regression analysis of 20 genes
The molecular basis for developmental disorders of the pituitary gland in man
Mild phenotype in two siblings with distal monosomy 12p13.31→pter
Multivariate analysis of associations of 42 genes in ADHD, ODD and conduct disorder
Increased urolithiasis in patients with alkaptonuria in childhood
Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosaicism
Single nucleotide polymorphisms and the future of genetic epidemiology
A retrospective study of long‐term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria
Cancer worries, risk perceptions and associations with interest in DNA testing and clinic satisfaction in a familial colorectal cancer clinic
Identification and characterization of ‐3c–g acceptor splice site mutation in human α‐ <scp>l</scp>‐iduronidase associated with mucopolysaccharidosis type IH/S Chinese
Involvement of an inflammation‐related gene in X‐linked mental retardation
Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa
The causes and consequences of random and non‐random X chromosome inactivation in humans
Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (ΔVal 122) presenting with carpal tunnel syndrome
Exclusion of chromosome 15q21.1 in autosomal‐recessive Weill–Marchesani syndrome in an inbred Lebanese family
Impact of age and body size on inter‐individual variation in measures of lipid metabolism: influence of gender and <i>apolipoprotein E</i> genotype
Down syndrome: genetic recombination and the origin of the extra chromosome 21
The X‐linked IAP gene does not contribute to the clinical phenotype of spinal muscular atrophy
A rapid fluorescent multiplexed‐PCR analysis (FMPA) for founder mutations in the <i>BRCA</i>1 and <i>BRCA</i>2 genes Ashkenazi Jewish; French-Canadian
Polydactyly in 22q11 syndrome: should it be taken into account?
Trends in the frequencies of consanguineous marriages in the Israeli Arab community
Risk estimates for carriers of chromosome reciprocal translocation t(4;9)(p15.2;p13)
No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation
Familial t(6;21)(p21.1;p13) translocation associated with male‐only sterility
Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia
Spina bifida and common mutations at the homocysteine metabolism pathway
MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations
Telomere‐telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2→p15.1: phenotypic consequences and possible mechanisms
Polymorphisms of human <i>SP‐A</i>, <i>SP‐B</i>, and <i>SP‐D</i> genes: association of <i>SP‐B</i> Thr131Ile with ARDS
Mutational analysis and genotype/phenotype correlation in Turkish Charcot–Marie–Tooth Type 1 and HNPP patients
The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation
Hallowed beginning
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in <i>KCNH2</i>
Breaking the law: the molecular basis of non‐Mendelian transmission
Molecular analysis of the 5′‐flanking region of the neurofibromatosis type 1 (<i>NF1</i>) gene: identification of five sequence variants
Identification of cystic fibrosis mutations in Oman
Genetic landmarks through philately – Karl Landsteiner: the father of blood grouping
Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction
Genetic defects as recorded in the pottery of the Moche culture of Peru
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome Bosnian
A novel mutation in the HEXA gene specific to Tay–Sachs disease carriers of Jewish Iraqi origin Eastern European (Ashkenazi); Iraqi Jews, Moroccan, Jewish Israeli, Ashkenazi, Jews of Iraqi descent
Expression profiling in cancer using gene chips
Hemochromatosis in Galicia (NW Spain): a Celtic influence? Celtic
The comparison of anthropometric variables in mentally retarded boys with and without fragile X syndrome
The vasculopathy of NF1 and histogenesis control genes
An SRY‐negative XX male with Huriez syndrome
The genetics of osteoporosis: ‘complexities and difficulties’
A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations
Identification of four novel mutations of the low‐density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
Sisters homozygous for the spinocerebellar ataxia type 6 (<i>SCA6</i>)/<i>CACNA1A</i> gene associated with different clinical phenotypes Japanese
Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism
Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
‘New Age’ gene medicines for the 21st century
Genetic landmarks through philately – Crick, Watson and Wilkins: the scientists behind DNA structure
A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T‐lymphocytes
Ambras syndrome or Hypertrichosis Universalis, does it really matter?
A germline mutation at the extreme 3′ end of the <i>APC</i> gene results in a severe desmoid phenotype and is associated with overexpression of beta‐catenin in the desmoid tumor French‐Canadian kindred
Relation between the insertion/deletion polymorphism in the gene coding for receptor associated protein (RAP) and plasma apolipoprotein AI (apoAI) and high‐density lipoprotein cholesterol (HDL) levels
Identification of a novel frameshift β‐thalassemia mutation in an Asian Indian
Improved classification of acute leukemias using oligonucleotide microarrays
Perceptions of Ashkenazi Jewish breast cancer patients on genetic testing for mutations in BRCA1 and BRCA2 Ashkenazi Jewish; Ashkenazi women; Jewish
Sporadic cardiac and skeletal myopathy caused by a <i>de novo</i> desmin mutation
Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri–Weill dyschondrosteosis
Psychomotor development in Cri du Chat Syndrome
Altering the pathway to human gene therapy
Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and <i>de novo</i> mutations in Duchenne muscular dystrophy
Angiotensin II type 1 receptor gene polymorphism is associated with the severity but not prevalence of coronary artery disease
Low density lipoprotein receptor‐related protein gene polymorphisms and risk for late‐onset Alzheimer's disease in a Japanese population
A glutamine‐rich protein involved in Notch signalling
Sudden death caused by pulmonary thromboembolism in Proteus syndrome
The frequency of the C677T substitution in the methylenetetrahydrofolate reductase gene in Manitoba
Influence of 699C→T and 1080C→T polymorphisms of the cystathionine β‐synthase gene on plasma homocysteine levels
Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients
Reply to the letter by Carpenter et al. ‘Novel’ immunodeficiency syndrome may be a previously described entity
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands "different populations"; "population"; "in our country"; "geographic distribution"; "nation-wide gen
Affective disorders: susceptibility and drug efficacy may be determined by the serotonin transporter promoter polymorphism
Mutated presenilins and Alzheimer's disease: the culprit could be calcium signaling
Association of the R485K polymorphism of the Factor V gene with poor response to activated protein C and increased risk of coronary artery disease in the Chinese population
Recent advances in the molecular basis of inherited photoreceptor degeneration
Finding our SNPs using oligonucleotide microarrays
Genetic testing, ethical concerns, and the role of patent law
Maternally inherited hearing impairment
Interacting proteins in yeast – a perfect marriage
A genetic screen for suppression of polyglutamine induced toxicity in flies
Novel deletional mutation of the <i>MEN1</i> gene in a kindred with multiple endocrine neoplasia type 1 Japanese
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the <i>PGFR2</i> gene
Low‐density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia European families; Southeast Asian population / Southeast Asian origin
The clinical significance of fragile sites on human chromosomes
Microbubbles used to ‘pop’ new gene into the heart
The incidence of cystic fibrosis (CF) mutations among patients from Croatia
Determination of the frequency of the 35delG allele in Brazilian neonates
The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis Italian population
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus
Mutations in a 10‐bp polyadenine repeat of transforming growth factor β‐receptor type II gene is an infrequent event in human epithelial ovarian cancer
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation
Gender‐specific effects of NAT2 and GSTM1 in bladder cancer
Neuronal migration defects of the cerebral cortex: a destination debacle
United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease
Predictive testing for familial adenomatous polyposis in a rural South Indian community
Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation
The road less traveled: functional recovery from neurodegeneration
How men view genetic testing for prostate cancer risk: findings from focus groups ethnic
Analysis of genomic instability using multiple assays in a patient with Rothmund–Thomson syndrome
Linkage exclusion and mutational analysis of the <i>noggin</i> gene in patients with fibrodysplasia ossificans progressiva (FOP)
A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory
An association between skewed X‐chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta
Identification of a novel deletion of the entire <i>OCRL1</i> gene detected by FISH analysis in a family with Lowe syndrome
Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype
Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery
Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counselling
Benefit‐sharing and other protections for communities in genetic research
Velo‐cardio‐facial phenotype and deletion of 22q11.2 in Hungarian children "Anglo-American populations", "Hungarian children", and the phrase "ethnic variability"
Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation
Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and <i>SHH</i> and <i>HLXB9</i> haploinsufficiency
Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis
Familial Prader‐Willi syndrome: case report and a literature review
Pedigree parables
Collagens: building blocks at the end of the development line
Ectodermal dysplasias: not only ‘skin’ deep
The success of gene therapy in correcting the failings of advancing age
Mouse models for human disease
Cortical dysgenesis in 2 patients with chromosome 22q11 deletion
Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca Northern European ancestry; Celtic origin
Shedding new light on the pathogenesis of familial Alzheimer disease
Genetic landmarks through philately – Barbara McClintock
Xolótl: god of monstrosities
Aberrant SP‐B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP)
Testing all possible protein–protein interactions in yeast
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
Segregation of a supernumerary del(15) marker chromosome in sperm
Workshop on Primed <i>In Situ</i> Labeling (PRINS)
British Human Genetics Conference
Human Genome Variation: Linking Genotypes to Clinical Phenotypes
Hugo Ethics Committee statement on benefit sharing
Second International Meeting on Male‐Mediated Developmental Toxicity
Fifth Annual Human Genome Meeting, April 9–12, 2000
The International Federation of Human Genetics Societies