| DNA polymorphism at the locus for human cholesteryl ester transfer protein (CETP) is associated with high density lipoprotein cholesterol and apolipoprotein levels |
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| Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X‐chromosome inactivation? |
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| X chromosome instability associated with familial Turner syndrome |
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| Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern |
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| 3C syndrome: third occurrence of cranio‐cerebello‐cardiac dysplasia (Ritscher‐Schinzel syndrome) |
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| Genetics Short Course |
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| Non‐mosaic trisomy 20 in amniotic fluid cultures with minor anomalies in the fetus |
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| Two other cases of ANOTHER syndrome? Family report and update |
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| Sjögren‐Larsson syndrome in Sweden: distribution of the gene |
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| Interaction between low density lipoprotein receptor (LDLR) and apolipoprotein E (apoE) alleles contributes to normal variation in lipid level |
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| Non‐allelic mutations in X‐linked retinitis pigmentosa |
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| The de Lange syndrome. Report of 15 cases |
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✓ |
✓ |
Negro |
| The mutation mechanism causing juvenile‐onset Tay‐Sachs disease among Lebanese |
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✓ |
✓ |
Lebanese‑Christian origin; Lebanese immigrant families; Lebanon (references to Lebanese origin and r |
| Chondrodysplasia punctata in an adult recognized as vitamin K antagonist* embryopathy |
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| A case of <i>de novo</i> trisomy 12p syndrome |
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| An idic(X) leads to a del(X) or vice versa? |
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| National Society of Genetic Counselors 9th Annual Education Conference |
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| Duchenne muscular dystrophy:detection of deletion carriers by spectrophotometric densitometry |
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| Determining zygosity in the Vietnam Era Twin Registry: an approach using questionnaires |
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✓ |
✓ |
race |
| “Variability gene” effect of cholesteryl ester transfer protein (CETP) genes |
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| X‐linked hypohidrotic ectodermal dysplasia and t(X;12) in a female |
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| Partial duplication of the eyebrows with other congenital malformations: a new syndrome |
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| Genetic heterogeneity of ataxia‐telanglectasia |
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| Linkage studies of Myotonia congenita and Paramyotonia congenita |
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✓ |
✓ |
German families; Germany; Great Britain |
| Catalase and glutathione peroxidase activity in cells with trisomy 21 |
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| Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families |
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✓ |
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Northern European population |
| Holoprosencephaly, polydactyly and normal chromosomes: pseudo‐trisomy 13? |
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| The effect of consanguinity on the reproductive wastage in the Turkish population |
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| Announcement |
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| Batten disease (Spielmeyer‐Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16 |
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✓ |
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| Identification of a second “French Canadian” LDL receptor gene deletion and development of a rapid method to detect both deletions |
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✓ |
✓ |
French Canadian |
| DNA polymorphisms at fibrinogen loci and plasma fibrinogen concentration |
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✓ |
✓ |
British, Norwegians |
| Autosomal dominant polycystic kidney disease in the 1980's |
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| Impact of medical genetics on public health: Down's syndrome |
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| Environmental health hazard handling: statistical and strategic concerns |
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| Genetic epidemiology of Greenland |
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✓ |
✓ |
Western Europe; Inuit (Eskimo); East Asian populations |
| A familial chromosomal translocation t(6q;7q) with habitual abortions |
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| The inactivation of the fragile X chromosome in female carriers of the Martin Bell syndrome as studied by two different methods |
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| Announcements |
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| Emery‐Dreifuss syndrome and X‐linked muscular dystrophy with contractures: evidence for homogeneity |
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| Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity |
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| Growth, bone maturation and pubertal development in children with the EMG‐syndrome |
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| Bloom's Syndrome. XII. Report from the Registry for 1987 |
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| A case of prenatal diagnosis of a familial satellited Yq chromosome |
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| Neural tube defects and omphalocele in trisomy 18 |
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| Bloom's syndrome. XIV. The disorder in Japan |
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✓ |
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Western European extraction |
| Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies |
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| Perinatal and first year follow‐up of patients with Prader‐Willi syndrome: normal size of hands and feet |
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| The Vth Nordic Meeting of Medical Genetics: Laugarvatn, Iceland, August 27–28, 1988 |
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| Brachydactyly type A‐7 (Smorgasbord): a new entity |
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| An interstitial deletion of the long arm of chromosome 13 |
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| A 45,X/69,XXY fetus |
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| Linkage between serum cholinesterase 2 (CHE2) and γ‐crystallin gene cluster (CRYG): assignment to chromosome 2 |
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| Radial ray defects and associated anomalies |
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| Second South African Society of Human Genetics |
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| X‐linked olivopontocerebellar atrophy |
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| Families with X‐linked hydrocephalus |
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| Parental origin of chromosomal non‐disjunction in a 49,XXXXY male using recombinant‐DNA techniques |
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| Mental illness and cognition in relation to age at puberty: a hypothesis |
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| Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation |
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| Two rare cases of 6p partial deletion |
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| Probability and likelihood in genetic counselling |
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| Evidence for non‐lysosomal storage of N‐acetylneuraminic acid (sialic acid) in sialuria fibroblasts |
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| Case of cyclopia with an unbalanced karyotype attributable to a balanced 3/7 translocation |
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| Letter to the Editors |
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| Impact of medical genetics concerning phenylketonuria: accomplishments, status and practical future possibilities |
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| Albinism and skin cancer in Southern Africa |
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✓ |
✓ |
black (Negro) population |
| Trisomy 1q |
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| Hereditary spastic diplegia with mental retardation in two young siblings |
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| Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition |
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✓ |
✓ |
uses the word 'ethnicity' and the phrase 'northwest Mexico' to refer to area of origin/ethnicity |
| Multipoint linkage mapping of the Xq25‐q26 region in a family affected by the X‐linked lymphoproliferative syndrome |
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✓ |
✓ |
Swiss family |
| Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta |
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✓ |
|
Irish |
| 3C syndrome: another case |
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| Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes |
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| Birth prevalence rates of skeletal dysplasias |
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| X‐linked spastic paraplegia: evidence for homogeneity with a variable phenotype |
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| Hutchinson‐Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance |
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| Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects |
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| Fryns syndrome: report on 8 new cases |
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| Autosomal dominant inheritance in familial angiolipomatosis |
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| Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome |
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| 6th International Congress on Cleft Palate and Related Craniofaclal Anomalies |
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| Molecular deletions in the Duchenne/Becker muscular dystrophy gene |
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| On the familial occurrence of congenital bilateral absence of vas deferens |
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| Trisomy 5 mosaicism in amniotic fluid with normal outcome |
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| A new case of deletion 1q42 syndrome |
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| Trisomy 9q3 syndrome: a case report and review of the literature |
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| Dermatoglyphic features of a male with diploid/tetraploid mosaicism |
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| Genetic counseling in families with inherited balanced translocations: experience with 36 families |
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| Mosaic 47,XY, + 8/48,XXYY in a mentally non‐retarded man with phenotypical and neurological abnormalities |
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| A pseudoisochromosome 18q and an isodicentric chromosome 18* |
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| Ichthyosis with an unusual constellation of ectodermal dysplasias |
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| A non‐enzymatic method for identification of citrullinemia heterozygotes |
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| Announcements |
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| The contribution of H LA to rheumatoid arthritis |
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| Increased frequencies of apolipoprotein ε2 and ε4 alleles in patients with ischemic heart disease |
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| Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome |
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| Tandem Y/6 translocation with partial deletion 6 (p23→pter) |
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| Osteogenesis imperfecta: a genetic, radiological, and epidemiological study |
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✓ |
✓ |
Danish; county of Fyn (Denmark); Danish population |
| Inv(8)(p23q22) and recombinant derivative in a Sicilian family |
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✓ |
✓ |
non‐Hispanic descent; Spanish domination of Sicily |
| Letter to the Editors |
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| The prevention and management of autosomal recessive conditions. Main example: alpharantitrypsin deficiency |
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| Towards the prevention of neural tube defects |
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| causing amyloid angiopathy and brain hemorrhage ‐ clinical genetics in Iceland |
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✓ |
✓ |
Icelanders |
| Perception of burden among at‐risk women of raising a child with fragile‐X syndrome |
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| A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales |
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| <i>De novo</i> Robertsonian D/D type translocations: the Leuven experience |
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| Another case of Bloom's syndrome in Japan |
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| High incidence of Bardet Biedl syndrome among the Bedouin |
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| Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci |
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| The motivation of at‐risk individuals and their partners in deciding for or against predictive testing for Huntington's disease |
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| Alpha‐fetoprotein findings in a case of cystic adenomatoid malformation of the lung |
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| “Unstable” translocation not proven unstable |
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| 3rd lnternatlonal Conference on Thalassemia Sardinia, 3–7 April 1989 |
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| Ehlers‐Danlos syndrome: a new oculo‐scoliotic type with associated polyneuropathy? |
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|
✓ |
✓ |
Bedouin |
| Genetic linkage between Huntington's disease and D4S10(G8) in Scottish families |
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✓ |
✓ |
Scottish families |
| Chromosomal abnormalities in amniotic fluid cell cultures: a comparison of apparent pseudomosaicism in Chang and RPMI‐1640 media |
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| Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients |
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| Chorionic villi sampling for early prenatal diagnosis: an option for the Jewish orthodox community |
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|
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| Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta |
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|
|
✓ |
✓ |
Irish |
| Prader‐Willi syndrome and Sotos syndrome |
|
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|
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| 21st Symposium of the European Society of Human Genetics, “Genetics In Cancer & Development”, Groningen, May 11–13, 1989 |
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| Variant nucleolus organizing regions and the risk of Down syndrome |
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| Prader‐Willi Syndrome Scientific Conference III Abstracts |
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| Nonsyndromal microphthalmia |
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| Retinitis pigmentosa, hearing loss and vitiligo: report of two patients |
|
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|
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| Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease |
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|
|
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|
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| Unique inheritance of streptomycininduced deafness |
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|
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| Announcements |
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|
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| Chromosome studies and fertility treatment in women with ovarian failure |
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| A genetic epidemiologic investigation of breast cancer in families with bilateral breast cancer. II. Linkage analysis |
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| Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome) |
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| Pena‐Shokeir phenotype with major CNS‐malformations: clinicopathological report of two siblings |
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| Familial steatocystoma multiplex: HLA, Gm, Km genotyping and chromosomal analysis in two unrelated families |
|
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|
✓ |
✓ |
Italian population |
| Application of the anthropometric discriminant functions in estimation of carrier probabilities in Martin‐Bell syndrome |
|
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|
|
| Macrosomia, microphthalmia, ± cleft palate and early infant death: a new autosomal recessive syndrome |
|
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|
|
✓ |
✓ |
Arab |
| Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family |
|
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| Smoking and reverse cholesterol transport: evidence for gene‐environment interaction |
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| Autosomal dominant congenital cataract on chromosome 16 |
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|
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| Fabry's disease |
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|
|
✓ |
✓ |
Danish families |
| Optimization of in situ hybridization to human metaphase chromosomes |
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| Impact of medical genetics on environmental medicine |
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| Impact, logistics and prospects of traditional prenatal diagnosis |
|
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|
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| Automated cytogenetic analysis: accomplishments, present status and practical future possibilities |
|
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|
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| Impact of complex genetic conditions on public health |
|
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| X‐linked myotubular myopathy: clinical and pathological findings in a family |
|
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| Leukocyte and plasma N‐laurylsphingosine deacylase (ceramidase) in Farber disease |
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|
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| An aetiological study of isochromosome‐X Turner's syndrome |
|
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| Angiokeratoma corporis diffusum in G<sub>M1</sub> gangliosidosis, Type 1 |
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| Holt‐Oram syndrome associated with the hypoplastic left heart syndrome |
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| Aarskog syndrome in Hungary |
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| A complex deformity of appendicular skeleton and shoulder with congenital heart disease in three generations of a Jordanian family |
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| An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy‐Walker malformation |
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