| Congenital cutis laxa with ligamentous laxity and delayed development, Dandy‐Walker malformation and minor heart and osseous defects |
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| An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt |
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| Defective G2 repair in Down syndrome: effect of caffeine, adenosine and niacinamide in control and X‐ray irradiated lymphocytes |
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| Direct transmission of a tandem duplication in the short arm of chromosome 8 |
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| A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene |
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| A fluorescent<i>in situ</i>hybridization analysis of the chromosome constitution of ejaculated sperm in a 47, XYY male |
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| Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family |
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| Non‐expression of von Hippel‐Lindau phenotype in an obligate gene carrier |
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| Oto‐palato‐digital syndrome type II in two unrelated boys |
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| Clinical aspects of the MASA syndrome in a large family, including expressing females |
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| Partial trisomy and monosomy 8p due to inversion duplication |
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| Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population |
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✓ |
✓ |
Portuguese population; Ashkenazi Jewish genetic background |
| The apolipoprotein B signal peptide insertion/deletion polymorphism is not associated with myocardial infarction in Norway |
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✓ |
✓ |
Norwegians |
| Associations of genotypes at the apolipoprotein AI‐CIII‐AIV, apolipoprotein B and lipoprotein lipase gene loci with coronary atherosclerosis and high density lipoprotein subclasses |
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| Molecular and clinical analyses of cystic fibrosis in the South of Spain |
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| Charcot‐Marie‐Tooth disease type 1A: the parental origin of a <i>de novo</i> 17p11.2‐p12 duplication |
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✓ |
✓ |
Danish |
| X;1 translocation in a female Menkes patient: characterization by fluorescence <i>in situ</i> hybridization |
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| Familial translocation t(10;14) (q26.1;q32.3): report of three offspring with 10q deletion and 14q duplication |
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| Oligodontia, short stature and small head circumference with normal intelligence |
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| Short tarsus — absence of lower eyelashes: an autosomal dominant condition |
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| A de novo 6q11—q15 duplication investigated by chromosome painting |
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| Preface |
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| Welcoming address by Nils Rettersøl Chairman of the Board of the Sig. K. Thoresen Foundation |
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| Identification of genetic variation that determines levels of plasma triglycerides and hypercoagulability |
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| Heredity in dementia of the Alzheimer type |
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| Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases |
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| Osteoarthropathia psoriatica of one leg: a manifestation of somatic mosaicism? |
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| The influence of genetic counselling in the era of DNA testing on knowledge, reproductive intentions and psychological wellbeing |
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| DNA polymorphisms of human apolipoprotein A‐IV gene: frequency and effects on lipid, lipoprotein and apolipoprotein levels in a French population |
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✓ |
✓ |
French population |
| A case of de novo interstitial deletion of chromosome 9(p12p13) |
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| Association between genetic variation at the APO AI‐CIII‐AIV gene cluster and familial combined hyperlipidaemia |
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| Changes in Lp(a) lipoprotein and other plasma proteins during acute myocardial infarction |
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| Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication |
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| No effect of a BglI polymorphism at the renin (REN) locus on blood pressure level or variability |
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✓ |
✓ |
Norwegians |
| A constitutional mutation within the retinoblastoma gene detected by PFGE |
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| Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence <i>in situ</i> hybridization (FISH) |
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| Thyroid cancer in a case with the Alagille syndrome |
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| A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene |
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| Chromosome instability in lymphocytes from patients with celiac disease |
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| Apolipoprotein B gene polymorphisms in ischemic heart disease and hypercholesterolemia: effects of age and sex |
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| Roberts‐SC phocomelia syndrome: a case with additional anomalies |
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| Autosomal dominant inheritance of thyroglossal duct cyst |
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| Variability gene effects of DNA polymorphisms at the apo B, apo AI/C III and apo E loci on serum lipids: the Cardiovascular Risk in Young Finns Study |
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| The Charcot‐Marie‐Tooth syndrome: clinical aspects from a population study in South Wales, UK |
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| Cerebro‐facio‐articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome |
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| A variant of the cerebro‐oculo‐facio‐skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family |
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| Prader‐Willi‐like phenotype in fragile X syndrome |
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| Achondroplasia with XXY karyotype |
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| Discordance between direct and PHA‐stimulated chromosome preparations from neonates |
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| The apolipoprotein C‐II variant apoC‐II<sub>Lys19→Thr</sub> is not associated with dyslipidemia in an affected kindred |
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| Patient and parental attitudes toward genetic screening and its implications at an adult cystic fibrosis centre |
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| Melkersson‐Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation |
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| Central nervous system abnormalities in chromosome deletion at 11q23 |
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✓ |
✓ |
Japanese |
| Announcements |
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| Characterization of β‐thalassemia mutations by denaturing gradient gel electrophoresis: patterns in the Mediterranean mutations |
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✓ |
✓ |
Mediterranean |
| Familial occurrence of Hirschsprung's disease |
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| Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p |
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| Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review |
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| A <i>Rsal</i> RFLP at the human myelin protein zero (<i>MPZ</i>) locus |
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| Familial mosaic Turner syndrome |
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| Ambral syndrome and congenital generalized hypertrichosis |
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| Opening remarks by Bjarne A. Waaler, President of the Norwegian Academy of Science and Letters |
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| Traversing the biological complexity in the hierarchy between genome and CAD endpoints in the population at large |
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| Gene environment interaction and plasma triglyceride levels: the crucial role of lipoprotein lipase |
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| Apolipoprotein(a): structural and functional consequences of mutations in kringle type 10 (or kringle 4–37) |
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| Genetic and environmental influences on LDL subclass phenotypes |
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| The XbaI polymorphism at the apolipoprotein B locus and risk of atherosclerotic disease |
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| DNA polymorphism at the locus for angiotensinogen I‐converting enzyme in Norwegian patients with myocardial infarction and controls |
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| Complications to the complex inheritance of schizophrenia |
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| The genetic structure of personality and learning: a phylogenetic model |
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| Sister chromatid exchange in families with Angelman or Prader‐Willi syndrome |
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| Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis |
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| Diphallus and associated anomalies with balanced autosomal chromosomal translocation |
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| Unilateral renal aplasia in X‐linked Kallmann's syndrome |
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| Determination of haemophilia A carrier status from hair samples using polymerase chain reaction technique |
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| Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype |
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| A cytogenetic register of trisomies in Scotland: results of the first 2 years (1989, 1990) |
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| A new simple and rapid dual assay for AFP and free β hCG in screening for Down syndrome |
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| Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10; 17) may indicate candidate gene regions |
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| Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family |
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| An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia |
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| The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q |
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✓ |
✓ |
Ashkenazi Jewish; Gentile; Swedish |
| A new human mtDNA polymorphism: tRNAGln/4336 (T→C) |
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| Ethnic differences in the occurrence of the M1(ala<sup>213</sup>) haplotype of alpha‐1‐antitrypsin in asthmatic and non‐asthmatic black and white South Africans |
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✓ |
✓ |
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| Informativity of intragenic microsatellites for carrier detection and prenatal diagnosis of cystic fibrosis in the Italian population |
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✓ |
✓ |
Italian population |
| Announcements |
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| No effect of insertion/ deletion polymorphism at the ACE locus on normal blood pressure level or variability |
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| Multiple coagulation defects and the Cohen syndrome |
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| Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis |
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✓ |
✓ |
Italian, Japanese, Portuguese, German |
| Plasminogen with type‐I mutation in the Chinese Han population |
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✓ |
✓ |
Chinese Han population; Japanese population |
| Inbreeding and congenital heart diseases in a North Indian population |
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| X‐linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly |
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| The Kabuki make‐up (Niikawa‐Kuroki) syndrome and isolated transient hyperphosphatasemia |
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| Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia |
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| DNA carrier detection in X‐linked progressive cone dystrophy |
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| Umbilical findings in Aarskog syndrome |
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| Pitted enamel hypoplasia in tuberous sclerosis |
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| Video display terminal — the risk of trisomy 18? |
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| Rett syndrome: random X chromosome inactivation |
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| Mild phenotype and normal gonadal function in females with 4p trisomy due to unbalanced t(X;4)(p22.1;p14) |
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| Down syndrome associated with systemic lupus erythematosus: a mere coincidence or a significant association? |
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| Down syndrome and male fertility: PCR‐derived fingerprinting, serological and andrological investigations |
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| Etiological subgroups in non‐syndromic isolated cleft palate. A genetic‐epidemiological study of 52 Danish birth cohorts |
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| Familial translocation (X;3) (p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study |
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| Patient with <i>de novo</i> 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids |
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| Antley‐Bixler syndrome: report of a patient and review of literature |
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| New allele of probe D17S61 present in the Charcot‐Marie‐Tooth 1A duplication |
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| Studies on the structure and function of the apolipoprotein(a) gene |
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| Importance of Lp(a) lipoprotein and HLA genotypes in atherosclerosis and diabetes |
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| High Lp(a) lipoprotein level in maternal serum may interfere with placental circulation and cause fetal growth retardation |
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| Mice transgenic for the human LCAT gene |
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| Colorectal cancer: lessons for genetic counselling and care for families |
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✓ |
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European countries |
| Heredity in personality disorders — an overview |
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| Adults with Williams‐Beuren syndrome: evaluation of the medical, psychological and behavioral aspects |
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| Predictive testing for Huntington disease: social characteristics and knowledge of applicants, attitudes to the test procedure and decisions made after testing |
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| Microcephaly with large anterior fontanelle, generalized convulsions, micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome? |
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| An alanine<sup>29</sup>‐serine variant in exon 2 of the low density lipoprotein receptor gene: no association with hypercholesterolemia |
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| Inv dup(15): contribution to the clinical definition of phenotype |
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| Analysis of 40 known cystic fibrosis mutations in South African patients |
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| Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia |
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| Clinical, ultrastructural and biochemical studies in two sibs with Ehlers‐Danlos syndrome type VI‐B‐like features |
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| Chediak‐Higashi syndrome with cerebellar cortical atrophy detected by MRI |
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| Occipital horn syndrome: report of a patient and review of the literature |
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| Male with type II autosomal recessive cutis laxa |
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| Myoclonic epilepsy and a maternally derived deletion of 15pter→13 |
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| Announcements |
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| Metaphase quality can be monitored by automatic counting of bands |
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| Minimal genetic influences on plasma fibrinogen level in adult males in the NHLBI twin study |
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| A woman with an apparent non‐mosaic 45,X delivered a 46,X,der(X) liveborn female |
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| X‐linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region |
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✓ |
✓ |
French family |
| Fine mapping of X‐linked clasped thumb and mental retardation (MASA syndrome) in Xq28 |
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| Fragile X syndrome with extra microchromosome |
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| Hereditary pubertal genu valgum in Iran |
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| The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60‐member kindred |
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| Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report |
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✓ |
✓ |
✓ |
European patients; Mexican ancestry |
| Effects of consanguinity on anthropometric measurements of newborn infants |
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| Announcement |
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| De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting |
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| A new case of “complete” trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23) |
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| A PCR‐based test for a polymorphism within the human NF1 gene |
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| Linkage analysis of 62 X‐chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X‐linked recessive inheritance of neural tube defects |
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|
✓ |
✓ |
Icelandic |
| Increased frequency of apolipoprotein B signal peptide sp24/24 in patients with coronary artery disease. General allele survey in the population of Taiwan and comparison with Caucasians |
✓ |
✓ |
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✓ |
✓ |
Chinese Han ethnic origin; Taiwanese |
| Allele frequencies of Mp6D‐9 and GATT markers in 32 Turkish cystic fibrosis families |
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| Announcements |
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| The KBG syndrome: follow‐up data on three affected brothers |
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| HLA‐A, B and DR antigens in patients with gonadal dysgenesis |
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| Marfan and cri du chat syndromes in an 18‐month‐old child: evidence of phenotype interaction |
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| A stigmatizing effect of the carrier status for cystic fibrosis? |
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| Prenatal sex determination by in situ hybridization on fetal nucleated cells in maternal whole venous blood |
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| Molecular characterisation of an Italian G6PD variant responsible for chronic non‐spherocytic haemolytic anaemia |
|
✓ |
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✓ |
✓ |
arisen independently in Europe and Asia; Italian; Japanese (Japanese subject); Europe; Asia |
| Identification of a non‐fluorescent isodicentric Y chromosome by molecular cytogenetic techniques |
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| Confounding results of Lp(a) lipoprotein measurements with some test kits |
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| From Ag phenotyping to molecular genetics: apolipoprotein B, serum lipid levels and coronary artery disease in Finland |
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✓ |
✓ |
Finnish; Finns; Finnish population; Finnish individuals |
| Evidence for single gene contributions to hypertension and lipid disturbances: definition, genetics, and clinical significance |
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✓ |
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| Genetic markers in hypercholesterolemic and normocholesterolemic Czech children |
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✓ |
✓ |
Czech |
| The angiotensin‐converting enzyme (ACE) genetic polymorphism: its relationship with plasma ACE level and myocardial infarction |
|
✓ |
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| Towards acceptable practices for antenatal and neonatal screening for disease or disease risk |
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| A <i>Bgl</i> I polymorphism in the human elastin gene (ELN) |
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| Announcements |
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| DNA polymorphisms at the locus for human cholesteryl ester transfer protein (CETP) are associated with macro‐ and microangiopathy in non‐insulin‐dependent diabetes mellitus |
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| Linkage between severe atopy and chromosome 11q13 in Japanese families |
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✓ |
✓ |
Japanese |
| A 12‐year preventive program for β‐thalassemia in Northern Sardinia |
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| Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance |
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| Possible localization of a major gene for cleft lip and palate to 4q |
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| Exclusion of linkage to 14q23‐24 in a family with Holt‐Oram syndrome |
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| Single mandibular incisor in a patient with del (18p) anomaly |
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| No effect on blood pressure level or variability of polymorphisms in DNA at the locus for atrial natriuretic factor (ANF) |
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✓ |
✓ |
Norwegians |