| Genetic counselling in haemophilia by discriminant analysis 1975-1980 |
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| Clinical Genetics Society. Abstracts of scientific papers presented on 9 and 10 April 1981 at the University of Sheffield |
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| Bone demineralisation in patients with Turner's syndrome. |
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| Parental consanguinity and the Majewski syndrome. |
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| Familial pericentric inversion of chromosome 11 detected prenatally |
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| Inheritance of a ring 14 chromosome |
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| Guidelines for the Testing of Chemicals for Mutagenicity |
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| Familial occurrence of a syndrome with branchial dysplasia, mental deficiency, club feet, and inguinal herniae |
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| Counseling in Medical Genetics |
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| An unusual form of familial acrocephalosyndactyly. |
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| X long arm deletion with oligomenorrhoea. |
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| Wishes of patients with retinitis pigmentosa concerning genetic counselling. |
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| DHT-receptor in cultured human fibroblasts: binding study in a family with androgen insensitivity (complete testicular feminisation). |
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| Neural tube defects. |
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| The Genetics of Coeliac Disease |
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| Genetics of plasma paroxonase activity |
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| Clinical Genetics Society. Abstracts of scientific papers presented on 7 and 8 April 1982 at the University of Glasgow |
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| A homozygote for pericentric inversion of chromosome 4. |
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| Feasibility of neonatal screening for Duchenne muscular dystrophy. |
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| Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy. |
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| Genetic Engineering 1 |
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| Dentistry in the Interdisciplinary Treatment of Genetic Diseases |
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| A family study of Charcot-Marie-Tooth disease. |
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| The high frequency of juvenile Huntington's chorea in South Africa |
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| Isozyme patterns and protein profiles in neuromuscular disorders. |
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| Familial polyposis coli and its extracolonic manifestations. |
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| Nomogram for estimating specific consanguinity risks |
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| Familial pericentric inversion of chromosome 13 resulting in duplication 13q22->qter |
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| An adult female with spondyloepiphyseal dysplasia tarda |
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| Genetic Engineering 2 |
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| Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities. |
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| The incidence of Down's syndrome in Nigeria. |
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| Adjacent 2 translocation involving 13q and 21q. |
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| The effect of minocycline on potassium leakage from red cells: a study of the genetics and relationship to vestibular adverse reactions |
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| Proximal 15q monosomy. |
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| Bioregulators of Reproduction |
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| Principles of Gene Manipulation. An Introduction to Genetic Engineering |
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| Studies on the origin of human amniotic fluid cells by immunofluorescent staining of keratin filaments. |
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| Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern. |
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| Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32). |
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| Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22). |
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| Atlas des Maladies Chromosomiques |
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| Autosomal recessive Klippel-Feil syndrome |
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| Partial deletion of the long arm of chromosome 4: a clinical syndrome |
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| Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases. |
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| The mutation rate to Huntington's chorea |
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| Alteration of NADH-diaphorase and cytochrome b5 reductase activities of erythrocytes, platelets, and leucocytes in hereditary methaemoglobinaemia with and without mental retardation. |
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| Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma |
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| A complex chromosome rearrangement resulting in trisomy 15q22->qter |
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| Two Robertsonian translocations in a boy with mental retardation |
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| Autoimmune chronic active hepatitis in Down's syndrome |
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| DNA Repair and Mutagenesis in Eukaryotes |
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| Measurement of erythrocyte membrane elasticity as a diagnostic aid in Duchenne muscular dystrophy. |
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| Pfeiffer's type of acrocephalosyndactyly in two families |
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| Micromelia, polysyndactyly, multiple malformations, and fragile bones in a stillborn child. |
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| Correction |
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| Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs |
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| Clinical evidence for heterogeneity in myotonic dystrophy. |
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| Two families with the Li-Fraumeni cancer family syndrome |
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| Translocation 21q22q in an infertile human male |
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| Clinical Genetics Society. Abstracts of scientific papers presented on 5 and 6 November 1981 at the Institute of Child Health, 30 Guilford Street, London WC1 |
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| A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility |
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| Report of a new case and clinical delineation of mosaic trisomy 9 syndrome |
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| The hypertelorism microtia clefting syndrome |
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| Clinical Genodermatology |
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| Pregnancy in a patient with 47,XX,i(Xq) karyotype. |
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| Acute transformation of a myeloproliferative state in sideroblastic anaemia with abnormal karyotype. |
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| Genetic aspects of fibrodysplasia ossificans progressiva. |
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| Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. |
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| De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. |
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| Chronic renal disease, myotonic dystrophy, and gonadoblastoma in XY gonadal dysgenesis |
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| Family studies on the chromosomal location of the retinoblastoma gene (Rb-1). |
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| Apparent enhanced response to the induction of sister chromatid exchange by mitomycin C in myotonic dystrophy. |
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| Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation. |
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| A genetic register for Huntington's chorea in South Wales. |
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| A three generation family study of cleft lip with or without cleft palate. |
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| Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. |
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| Pericentric inversion of chromosome 1 in an azoospermic man |
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| Aetiology and interrelationship of some common skeletal deformities. (Talipes equinovarus and calcaneovalgus, metatarsus varus, congenital dislocation of the hip, and infantile idiopathic scoliosis). |
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| Fraser syndrome presenting as bilateral renal agenesis in three sibs |
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| Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation. |
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| Congenital universal alopecia, mental deficiency, and microcephaly in two sibs |
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| Interrelationship of different dysraphic malformations and consequences for genetic counselling. |
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| Correspondence |
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| Studies of a family with incontinentia pigmenti variably expressed in both sexes. |
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| Recurrent spontaneous abortions due to a homologous Robertsonian translocation (14q14q) |
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| A new camptodactyly syndrome |
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| A malformed baby with two separate de novo translocations |
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| A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter). |
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| An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives. |
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| A new variant of spondylometaphyseal dysplasia with autosomal dominant mode of inheritance. |
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| Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia) |
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| A case of inverted insertion assessed by R and G banding |
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| A new type of osteogenesis imperfecta. |
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| Sensitivity to ionising radiation of lymphocytes from Huntington's chorea patients compared to controls. |
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| Delta beta (F)-thalassaemia in Sardinia. |
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| Chromosomal Variation in Man. A Catalog of Chromosomal Variants and Anomalies |
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| A family study of craniosynostosis, with probable recognition of a distinct syndrome. |
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| Familial Poland anomaly. |
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| Human chromosomal heteromorphisms in American blacks. VI. Higher incidence of longer Y owing to non-fluorescent (nf) segment. |
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✓ |
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American blacks |
| The Johanson-Blizzard syndrome |
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| Pericentric inversion of chromosome 11 in one of two similar retarded brothers. |
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| Ectodermal dysplasia in females. |
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| A family study of isolated cleft palate. |
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| Hereditary twenty-nail dystrophy in a Sicilian family |
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✓ |
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Sicilian family |
| Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11) |
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| "Microcytogenetics" and Langer-Giedion syndrome. |
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| Genes for super-intelligence? |
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| Genes for super-intelligence? |
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| A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms |
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| Spectrum of anomalies in Fanconi anaemia. |
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| Thalassaemia intermedia in a family with beta 0-thalassaemia and Hb Hasharon. |
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| An association study of Huntington's disease and HLA. |
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| Odds in genetic counselling |
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| The phenotype of ring chromosome 3. |
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| Apnoea following suxamethonium: the genetic study of four generations of a family. |
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| Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation. |
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| Alobar holoprosencephaly and otocephaly in a female infant with a normal karyotype and placental villitis. |
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| The Martin-Bell-Renpenning syndrome |
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| Roberts syndrome: clinical and cytogenetic aspects |
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| Chiasma derived genetic maps and recombination fractions: chromosome 13 with reference to the proposed 13q14 retinoblastoma locus. |
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| Marshall/Stickler syndrome |
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| Leser-Trelat sign in mother and daughter with breast cancer. |
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| Inherited partial X chromosome duplication in a mentally retarded male. |
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| Genetics: Human Aspects |
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| Cd branding studies in a homologous Robertsonian 13;13 translocation. |
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| Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation. |
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| Diagnosis of Organic Acidemias by Gas Chromatography-Mass Spectrometry |
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| Genetique |
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| A clinical and genetic study of Hunter's syndrome. 1 Heterogeneity |
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| Genetics of the apolipoprotein-E isoprotein system in man. |
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| Lymphocyte interphase chromatin in healthy subjects, patients with Down's syndrome, and their parents and sibs. |
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| Parental age and birth order in Chinese children with congenital heart disease. |
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✓ |
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Chinese |
| Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype. |
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| Survivors of neuroblastoma and ganglioneuroma and their families. |
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| Chromosome distribution studies in XXY karyotypes. |
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| A second patient with partial deletion of the short arm of chromosome 3: karyotype 46,XY,del(3)(p25). |
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| Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems |
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| Serum gonadotrophins in Down's syndrome |
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| Human Embryonic and Fetal Death |
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| Delineation of trisomy 9. |
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| Population Structure and Genetic Disorders |
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| An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation. |
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| Population and Biological Aspects of Human Mutation |
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