| Investigation of malignant hyperthermia: analysis of skeletal muscle proteins from normal and halothane sensitive pigs by two dimensional gel electrophoresis. |
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| A new alopecia/mental retardation syndrome |
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| Evidence against a female specific class of neural tube defect. |
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| Pericentric inversion of chromosome 13. |
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| Organic Acids in Man. The Analytical Chemistry, Biochemistry and Diagnosis of the Organic Acidurias |
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| Abstracts of the Joint Meeting of the Clinical Genetics Society and the Royal College of Obstetricians and Gynaecologists held at the Royal College, London, on 27 October 1982 |
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| Correction |
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| Genetic Variants and Strains of the Laboratory Mouse |
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| Genetic Recombination. Understanding the Mechanisms |
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| Early Diagnosis of Fetal Defects |
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| Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire. |
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| Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia. |
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| Huntington's disease in monozygotic twins reared apart. |
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| Study of a form of pulverulent cataract in a large kindred. |
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| Osteoglophonic dwarfism in two generations. |
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| Abstracts of the meeting of the Clinical Genetics Society held on 7 and 8 April 1983 at the University of Cambridge |
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| Annual Review of Immunology |
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| Phenotypic variation in the familial atypical multiple mole-melanoma syndrome (FAMMM). |
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| Partial monosomy of chromosome 10 short arms. |
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| A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome |
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| Distal monosomy 14 not associated with ring formation. |
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| Editorial |
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| Fragile X chromosome: clinical and cytogenetic studies on cases from seven families. |
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| A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. |
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| Additional manifestations of the Neu-Laxova syndrome. |
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| Two chromosome fragments in a child with Down's syndrome and transient chromosome aberrations in the mother. |
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| La Pratique de l'Analyse Chromosomique |
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| Genetic Engineering 3 |
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| The teaching of human genetics in schools. |
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| Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. |
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| The fragile X: a scanning electron microscope study. |
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| Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis. |
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| The cause(s) of neural tube defect |
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| The genetic control of sparteine and debrisoquine metabolism in man with new methods of analysing bimodal distributions. |
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| Linkage analysis of neurofibromatosis (von Recklinghausen disease). |
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| Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis. |
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| Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. |
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| Partial trisomy 14q24 leads to qter. |
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| Reciprocal translocation 14q;21q in a patient with the Brachmann-de Lange syndrome. |
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| Metatarsus adductus in two brothers with Aarskog syndrome. |
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| The effect of the acetylator phenotype on the metabolism of sulphasalazine in man |
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| Immunological tolerance induced by in utero injection. |
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| Consanguineous matings in the Egyptian population. |
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| A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity? |
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| Correspondence |
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| Recessively inherited brachydactyly type C |
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| Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18. |
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| De novo tandem duplication 17p11->cen |
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| Translocation t(1;20)(q21;q13) in an azoospermic man. |
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| Craniosynostosis. |
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| Pyloric stenosis: children vs sibs. |
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| Delineation of trisomy 9 syndrome. |
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| Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea. |
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| Intrauterine death: an approach to the analysis of genetic heterogeneity. |
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| Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with a testicular tumour. |
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| Intestinal obstruction and cystic fibrosis: antenatal ultrasound appearance. |
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| Serum gonadotrophins in Down's syndrome |
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| Sister Chromatid Exchange |
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| Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. |
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| The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies. |
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| Evaluation of segregation ratio in Wilson's disease. |
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| Involvement of dorsal root ganglia in Fabry's disease. |
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| Does sacral agenesis predispose to spina bifida? |
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| Familial Inherited Abnormalities |
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| Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance? |
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| Empirical recurrence risk after unidentified multiple congenital abnormalities. |
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| De novo translocation heterozygote with three reciprocal translocations. |
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| A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation. |
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| Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11). |
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| Editorial |
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| Chromosomal breakage in normal and fragile X subjects using low folate culture conditions. |
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| Huntington's disease and leprosy in a New Guinea Highlander. |
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| Severe cardiac anomalies in sibs with Larsen syndrome. |
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| Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? |
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| A simple technique for obtaining prometaphase chromosomes from lymphocytes. |
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| De novo duplication of the 7q11 leads to q22 region. |
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| Dissection of the aorta in Turner's syndrome. |
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| Trisomy for 8p21->pter owing to a familial translocation |
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| Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit? |
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| New mutations in Huntington's chorea. |
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| Hypostatic ulcers in 47,XXY Klinefelter's syndrome |
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| Racial variation of a non-fluorescent segment of the Y chromosome in East Indians. |
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| Ten genetic polymorphisms in bladder cancer. |
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| X linked recessive inheritance of agenesis of the corpus callosum. |
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| Graves' disease and Down's syndrome |
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| Aberrant melanoblast migration associated with trisomy 18 mosaicism. |
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| Huntington's Chorea |
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| Clinical, Structural, and Biochemical Advances in Hereditary Eye Disorders |
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| Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome |
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| Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology. |
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| Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36). |
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| Heterogeneity of osteogenesis imperfecta type I. |
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| alpha-Thalassaemia in Apulia: biosynthetic studies. |
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| Mid-trimester diagnosis of bladder neck obstruction by ultrasound and paracentesis. |
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| Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. |
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| Fragile X trait in a large kindred: transmission also through normal males. |
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| Phenazopyridine induced methaemoglobinaemia associated with decreased activity of erythrocyte cytochrome b5 reductase. |
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|
| Absence of the fragile X in a group of patients with idiopathic mental retardation. |
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|
| Histocompatibility Antigens. Structure and Function |
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| C heterochromatin variation in couples with recurrent early abortions. |
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| Spontaneous and mutagen induced sister chromatid exchange in multiple sclerosis. |
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| Two cases of ring chromosome 11. |
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| Phenotype-genotype correlation in haemoglobin H disease in childhood. |
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| Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). |
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|
| De novo interstitial direct duplication of 15q: 46,XY,dir dup(15) (pter leads to q24::q14 leads to q21 X 1::q24 leads to qter). |
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|
|
| The genetic status of mothers of isolated cases of Duchenne muscular dystrophy. |
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|
| Huntington's chorea in South Wales: mutation, fertility, and genetic fitness. |
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| Chromosome changes in Alzheimer's presenile dementia. |
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| Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. |
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|
| Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis. |
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|
| delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia. |
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| Charcot-Marie-Tooth disease. |
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| Spondyloepiphyseal dysplasia. |
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| Philtrum length and intercommissural distance in newborn infants. |
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| Tetrasomy 18p: tentative delineation of a syndrome |
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| A case of the G syndrome. |
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| Adjacent 2 translocation involving 13q and 21q. |
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| The effect of the male contraceptive agent Gossypol on human lymphocytes in vitro: traditional chromosome breakage, micronuclei, sister chromatid exchange, and cell kinetics. |
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| Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q. |
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| Down's syndrome in twins of unlike sex. |
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| The cause of neural tube defects: some experiments and a hypothesis. |
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|
| Microcephaly and intracranial calcification in two brothers |
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|
| Assessment of ear length and low set ears in newborn infants. |
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|
| Interstitial duplication/deletion owing to unequal crossing-over in association with pericentric inversion. |
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|
| The Genetics of Neurological Disorders |
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|
| Orthopaedic Problems in Inherited Skeletal Disorders |
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|
| Clinical Genetics: Problems in Diagnosis and Counseling |
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|
|
| Editorial |
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|
| The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. |
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| Thoracic-pelvic dysostosis: a 'new' autosomal dominant form. |
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| The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. |
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|
| HLA-DR2 in two sibships with insulin-dependent diabetes mellitus. |
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|
| Monosomy 18p and pure trisomy 18p in a family with translocation (7;18). |
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|
| A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23). |
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|
| Agenesis of the corpus callosum in two brothers. |
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| Hereditary costovertebral dysplasia with malignant cerebral tumour. |
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|
| Spatial relationship of human X and Y chromosomes at somatic metaphase. |
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| A father and daughter with fragile X chromosome. |
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| Familial hypogonadism with a balanced reciprocal 1;12 translocation. |
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| Book reviews |
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| Ring chromosome 10 and its clinical features. |
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| The incidence of Down's syndrome over a 19-year period with special reference to maternal age. |
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| Correction |
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| Paracentric inversions: two new familial cases, inv (7)(q22q11) and inv (11)(q23q13). |
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|
| Proximal 15q monosomy |
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|
| Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16. |
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|
|
| Unusual ocular findings in an infant with cri-du-chat syndrome. |
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|
| Animal Models of Inherited Metabolic Diseases |
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|
| The association of the slow acetylator phenotype with bladder cancer. |
|
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|
|
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|
|
| Tetrasomy 9p confirmed by GALT. |
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|
| Huntington's chorea arising as a fresh mutation. |
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|
| X chromosome replication patterns in a case of X;9 balanced translocation. |
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|
| Acetylator phenotypes in Papua New Guinea |
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|
| Familial Poland anomaly. |
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|
| Association between phosphoglucomutase (PGM1) and group-specific component (Gc) subtypes and tuberculosis. |
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|
| Yq deletion with short stature, abnormal male development, and schizoid character disorder. |
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|
| The haemoglobin pattern of sickle cell and haemoglobin C beta +-thalassaemia in Liberia. |
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| Malformations associated with congenital absence of the gall bladder. |
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