| Cat eye syndrome owing to tetrasomy 22pter leads to q11. |
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| The incidence of Down's syndrome over a 19-year period. |
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| Correspondence |
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| Correspondence |
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| Philtrum length and intercommissural distance in newborn infants. |
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| Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. |
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| Familial pericentric inversion (13) detected by antenatal diagnosis. |
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| Interpretation of RFLP linkage data. |
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| Correction |
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| Homozygosity for autosomal dominant Marfan syndrome. |
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| Carrier detection in the testicular feminisation syndrome: deficient 5 alpha-dihydrotestosterone binding in cultured skin fibroblasts from the mothers of patients with complete androgen insensitivity. |
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| Report of the Clinical Genetics Society Working Party on the role and training of clinical geneticists, September 1983. |
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| Interstitial deletion of the short arm of chromosome 4. |
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| Ir Genes. Past, Present, and Future |
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| Editorial |
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| A screening programme for the prospective prevention of Mediterranean anaemia in Latium: results of seven years' work. |
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| Familial pericentric inversion (10) and its effect on two offspring. |
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| Editorial |
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| Biamnial alpha fetoprotein concentration in twins, one with multiple malformations. |
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| A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities. |
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| Lateral reading 9 |
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| Stub thumbs in Israel revisited. |
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| Interstitial deletion of the short arm of chromosome 5 in a mother and three children. |
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| Heritable Disorders of Connective Tissue |
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| Research Ethics |
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| Utilization of Mammalian Specific Locus Studies in Hazard Evaluation and Estimation of Genetic Risk |
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| Editorial |
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| Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. |
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| Triploidy with cyclopia and identical HLA alleles in the parents. |
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| Neural tube defects in sibs of children with tracheo-oesophageal dysraphism. |
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| Premature Chromosome Condensation. Application in Basic, Clinical, and Mutation Research |
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| Gossypol induces DNA strand breaks in human fibroblasts and sister chromatid exchanges in human lymphocytes in vitro. |
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| Abstracts of the meeting of the Clinical Genetics Society held on 18 and 19 November 1983 at Guy's Hospital, London |
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| Trisomy 5p: a second case occurring in a previously described kindred. |
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| A case of deletion 2q35----qter and a peculiar phenotype. |
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| Cytological subdivision of the S phase of human cells in asynchronous culture. |
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| A case of partial monosomy 21q22.2 associated with Rieger's syndrome. |
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| Mosaic hexasomy 21. |
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| The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. |
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| Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring. |
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| Trisomy 9p due to unusual maternal translocation (3;9). |
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| Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland. |
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| Anencephaly: a retrospective analysis in Singapore. 1976 to 1980. |
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| Autosomal recessive severe congenital microcephaly: antenatal ultrasonographic diagnosis and head growth from 15 to 24 weeks of gestation |
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| Deleted X chromosomes in patients with the fragile X syndrome. |
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| A malformed girl with duplication of chromosome 9q. |
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| A study of retinitis pigmentosa in the City of Birmingham. I Prevalence. |
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| Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss. |
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| A rare heterochromatic variant of chromosome 4. |
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| Inv dup (15) |
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| Abstracts of the scientific meeting of the Association of Clinical Cytogeneticists held at the Duncan Guthrie Institute of Medical Genetics, Glasgow, on 4 and 5 May 1983 |
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| First trimester fetal karyotyping in twin pregnancy. |
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| Duchenne muscular dystrophy. |
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| Minor Malformations in the Neonate |
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| Treated glass coverslips for in situ culture of amniotic cells: better cell adhesion and growth than on plastic. |
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| An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome. |
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| Ring (13),t(2;6) associated with familial fragile (16). |
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| Whole arm translocation t(1;13) in an infertile man. |
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| Hypermobility of Joints |
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| Early Mammalian Development: Parthenogenetic Studies |
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| Four cases of trisomy 18 syndrome with limb reduction malformations. |
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| Abstracts of the meeting of the Clinical Genetics Society held on 5 and 6 April 1984 at Salford University, Manchester |
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| Endocrine abnormalities in a patient with partial trisomy 4q. |
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| Deletion of the short arm of chromosome 3: a case report with necropsy findings. |
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| The femoral hypoplasia-unusual facies syndrome. |
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| Freeman-Sheldon (whistling face) syndrome in a Turner mosaic. |
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| Recurrence risk after neural tube defects in a genetic counselling clinic. |
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| Prevention of midline defects. |
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| Translocations, social class, and Adam and Eve. |
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| Polymorphic hydroxylation of perhexiline maleate in man. |
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| The Marshall and Stickler syndromes: objective rejection of lumping. |
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| Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. |
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| De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2). |
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| Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred. |
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| Familial multiple naevi flammei. |
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| A computerised data base for the diagnosis of rare dysmorphic syndromes. |
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| The 3-M syndrome. |
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| Trisomy 1q24----1q41 in two sibs with an insertion in an inverted chromosome 4. |
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| Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus. |
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| On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population. |
✓ |
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| Risk estimates for neonatal myotonic dystrophy. |
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| An analysis of the parental age effect for inv dup (15). |
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| Fragile site at 12q13 associated with phenotypic abnormalities. |
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| De novo translocation involving chromosomes 2, 8, and 20. |
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| 49,XXYY, +18 in a liveborn male. |
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| Genetics of Cardiovascular Disease |
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| Growth hormone inhibition causes increased selenium levels in Duchenne muscular dystrophy: a possible new approach to therapy. |
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| Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects. |
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| Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases. |
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| Partial trisomy 16p due to maternal balanced translocation. |
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| Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance |
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| Parietal foramina in Saethre-Chotzen syndrome |
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| Correction |
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| Partial trisomy 16 as a result of familial 16;20 translocation. |
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| Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement. |
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| Ring chromosome 1 associated with radial ray defect. |
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|
| A study of retinitis pigmentosa in the City of Birmingham. II Clinical and genetic heterogeneity. |
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| A linkage study between HLA and cutaneous malignant melanoma or precursor lesions or both. |
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| Glycoproteins in cystic fibrosis: a lectin binding study. |
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|
| Annual Review of Genetics |
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|
| Inheritance of idiopathic torsion dystonia among Jews. |
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✓ |
|
Jews |
| Chromosome variation in perinatal mortality: a survey of 500 cases. |
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| The origin of ovarian teratomas. |
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| Spondylocostal dysostosis. |
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| Routine diagnostic detection of the fragile X. |
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|
| Spectrum of anomalies in Fanconi anaemia. |
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| Genetic heterogeneity in Duchenne muscular dystrophy. |
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|
| Delta beta-thalassaemia in southern Italy: evidence for a single mutational event. |
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| Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome. |
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|
| Haemoglobin O Arab (B121 Glu-Lys) in Turkish Cypriot population. |
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| Breast cancer, genetics, and age at first pregnancy. |
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|
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| Editorial |
|
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|
| Impaired HLA capping capacity of peripheral blood lymphocytes in Duchenne muscular dystrophy. |
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|
| Clinical and cytogenetic diversity in Fanconi's anaemia. |
|
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|
|
| Inv dup (15) with mental retardation but few dysmorphic features. |
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|
|
| A Colour Atlas of Clinical Genetics |
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| Soft Tissue Ossification |
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| Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency. |
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| Familial hidradenitis suppurativa: evidence in favour of single gene transmission. |
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|
| Observations on the epidemiology of club foot in Polynesian and Caucasian populations. |
✓ |
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|
✓ |
|
Polynesian |
| Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells. |
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|
|
| A familial insertion involving an active nucleolar organiser within chromosome 12. |
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|
|
| Pericentric inversion inv(3)(p11q21). |
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|
| Interstitial deletion of chromosome band 13q14 associated with squamous cell carcinoma. |
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|
| Professor C O Carter, MA, DM, FRCP: Director of the MRC Clinical Genetics Unit, Institute of Child Health, London, 1964-1982, and Assistant Editor of Journal of Medical Genetics, 1970-1983: Tributes a |
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| Paracentric inversions in man. |
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|
| An epidemiological and genetic study of facial clefting in France. II Segregation analysis. |
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|
|
| Familial paracentric inversion of chromosome 15 (q15q24). |
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|
| A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter. |
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|
|
| A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils. |
|
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|
| Blood Relations. Blood Groups and Anthropology |
|
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|
|
| What is the incidence of holoprosencephaly? |
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|
| Concordant monozygotic twins with bilateral renal agenesis. |
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|
| Poland-Mobius syndrome associated with dextrocardia. |
|
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|
| Mobile Genetic Elements |
|
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|
| Familial occurrence of unilateral giant breasts in Nigeria: a possible new genetic entity. |
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|
|
| Editorial |
|
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|
|
| Blot hybridisation analysis of genomic DNA. |
|
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|
| Orofaciodigital syndrome with mesomelic limb shortening. |
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|
| Survey of the human acetylator polymorphism in spontaneous disorders. |
|
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|
| Tuberous sclerosis: a new estimate of prevalence within the Oxford region. |
|
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|
|
| Familial centric fission of chromosome 4. |
|
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|
|
| Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. |
|
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|
| Tracheo-oesophageal dysraphism. |
|
|
|
|
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|
|
| Issues and Reviews in Teratology |
|
|
|
|
|
|
|
|
|
| Correspondence |
|
|
|
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|
|
| A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia. |
|
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|
|
|
| Incidence of pyloric stenosis in British Columbia over a 12 year period. |
|
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|
| The fragile X syndrome: the patients and their chromosomes. |
|
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|
| Spondyloepiphyseal dysplasia tarda with progressive arthropathy. |
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|
|
| Developments in Human Reproduction and their Eugenic and Ethical Implications |
|
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|
|
| Hereditary coproporphyria: incidence in a large English family. |
|
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|
|
✓ |
|
English family |
| Abstracts of the scientific meeting of the Association of Clinical Cytogeneticists held at the Institute of Child Health, London, on 2 and 3 May 1984 |
|
|
|
|
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|
|
| Ataxia-Telangiectasia. A Cellular and Molecular Link Between Cancer, Neuropathology, and Immune Deficiency |
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|