| beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis. |
|
|
|
|
|
|
|
|
|
| A case of malignant spinal cord ependymoma in association with a duplication of part of the long arm of chromosome 12. |
|
|
|
|
|
|
|
|
|
| Advances in Human Genetics |
|
|
|
|
|
|
|
|
|
| Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. |
|
|
|
|
|
|
|
|
|
| Seckel syndrome: an overdiagnosed syndrome. |
|
|
|
|
|
|
|
|
|
| Clinical and haematological evaluation of beta thalassaemia intermedia with increased Hb F and Hb A2 in heterozygotes: beta thalassaemia intermedia I. |
|
|
|
|
|
|
|
|
|
| Prenatal Diagnosis. Special Issue. Collaborative Studies in Prenatal Diagnosis of Chromosome Aberrations |
|
|
|
|
|
|
|
|
|
| The Antibody Enigma |
|
|
|
|
|
|
|
|
|
| Molecular genetics of the human X chromosome. |
|
|
|
|
|
|
|
|
|
| Zygosity determination in newborn twins using DNA variants. |
|
|
|
|
|
|
|
|
|
| Admission of Hb S heterozygotes to a general hospital is relatively reduced in malarial areas. |
|
|
|
|
|
|
|
|
|
| Prenatal screening for Down syndrome. |
|
|
|
|
|
|
|
|
|
| Correction |
|
|
|
|
|
|
|
|
|
| Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. |
|
|
|
|
|
|
|
|
|
| Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. |
|
|
|
|
|
|
|
|
|
| Laboratory Animal Medicine |
|
|
|
|
|
|
|
|
|
| Brave New People |
|
|
|
|
|
|
|
|
|
| The estimation of recurrence risks in monogenic disorders using flanking marker loci. |
|
|
|
|
|
|
|
|
|
| The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? |
|
|
|
|
|
|
|
|
|
| Reduced penetrance in tuberous sclerosis. |
|
|
|
|
|
|
|
|
|
| Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. |
|
|
|
|
|
|
|
|
|
| Trigonocephaly and the Opitz C syndrome. |
|
|
|
|
|
|
|
|
|
| Discordant sex in one of three monozygotic triplets. |
|
|
|
|
|
|
|
|
|
| 'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1). |
|
|
|
|
|
|
|
|
|
| Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. |
|
|
|
|
|
|
|
|
|
| Dermatoglyphs in children with mitral valve prolapse. |
|
|
|
|
|
|
|
|
|
| Tracheo-oesophageal anomalies in the Goldenhar anomalad. |
|
|
|
|
|
|
|
|
|
| Severe pseudoachondroplasia with parental consanguinity. |
|
|
|
|
|
|
|
|
|
| Perspectives in Mutation Epidemiology |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II. |
|
|
|
|
|
|
|
|
|
| Complex cardiac malformation in a case of trisomy 9. |
|
|
|
|
|
|
|
|
|
| Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. |
|
|
|
|
|
|
|
|
|
| Principles and Practice of Medical Genetics |
|
|
|
|
|
|
|
|
|
| Birth Defects: Clinical and Ethical Considerations |
|
|
|
|
|
|
|
|
|
| A population study of adult onset limb-girdle muscular dystrophy. |
|
|
|
|
|
|
|
|
|
| The inheritance of primary lymphoedema. |
|
|
|
|
|
|
|
|
|
| Cornelia de Lange syndrome in several members of the same family. |
|
|
|
|
|
|
|
|
|
| Two brothers with Martsolf's syndrome. |
|
|
|
|
|
|
|
|
|
| Correspondence |
|
|
|
|
|
|
|
|
|
| Genetic Aspects of Speech and Language Disorders |
|
|
|
|
|
|
|
|
|
| Mutagenicity, Carcinogenicity, and Teratogenicity of Industrial Pollutants |
|
|
|
|
|
|
|
|
|
| Reciprocal translocation between chromosomes 8 and 9 in atypical chronic myeloid leukaemia. |
|
|
|
|
|
|
|
|
|
| Parietal foramina in the Saethre-Chotzen syndrome. |
|
|
|
|
|
|
|
|
|
| Collagen genes and proteins in osteogenesis imperfecta. |
|
|
|
|
|
|
|
|
|
| Monoclonal Antibodies and Functional Cell Lines. Progress and Applications |
|
|
|
|
|
|
|
|
|
| Biofuture. Confronting the Genetic Era |
|
|
|
|
|
|
|
|
|
| Perinatal Epidemiology |
|
|
|
|
|
|
|
|
|
| Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases. |
|
|
|
|
|
|
|
|
|
| De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells. |
|
|
|
|
|
|
|
|
|
| A complex balanced rearrangement involving four chromosomes in an azoospermic man. |
|
|
|
|
|
|
|
|
|
| De novo paracentric inversion in an X chromosome. |
|
|
|
|
|
|
|
|
|
| Congenital diaphragmatic hernia in half sibs. |
|
|
|
|
|
|
|
|
|
| Extra euchromatic band in the qh region of chromosome 9. |
|
|
|
|
|
|
|
|
|
| Recombinant DNA and Medical Genetics |
|
|
|
|
|
|
|
|
|
| First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. |
|
|
|
|
|
|
|
|
|
| Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome. |
|
|
|
|
|
|
|
|
|
| Hyperinsulinaemic hypoglycaemia in an infant with mosaic trisomy 13. |
|
|
|
|
|
|
|
|
|
| Gene mapping and medical genetics. |
|
|
|
|
|
|
|
|
|
| Survey on haemoglobin variants, beta thalassaemia, glucose-6-phosphate dehydrogenase deficiency, and haptoglobin types in Turks from western Thrace. |
|
|
|
|
|
|
|
|
|
| Familial pulmonary valve stenosis, atrial septal defect, and unique electrocardiogram abnormalities. |
|
|
|
|
|
|
|
|
|
| Annual Review of Genetics |
|
|
|
|
|
|
|
|
|
| A family study of hidradenitis suppurativa. |
|
|
|
|
|
|
|
|
|
| Phenotypic variation in LADD syndrome. |
|
|
|
|
|
|
|
|
|
| Abstracts of the meeting of the Clinical Genetics Society. 24-25 April 1985, Birmingham. |
|
|
|
|
|
|
|
|
|
| The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. |
|
|
|
|
|
|
|
|
|
| Correspondence |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of the common haemoglobin disorders. |
|
|
|
|
|
|
|
|
|
| Application of an intragenic genomic probe to genetic counselling for haemophilia B in the west of Scotland. |
|
|
|
|
|
|
|
|
|
| Immunogenetics. Its Application to Clinical Medicine |
|
|
|
|
|
|
|
|
|
| A child with a recombinant of chromosome 8 inherited from her carrier mother. |
|
|
|
|
|
|
|
|
|
| Familial opposable triphalangeal thumbs associated with duplication of the big toes. |
|
|
|
|
|
|
|
|
|
| Necropsy findings in neonatal asphyxiating thoracic dystrophy. |
|
|
|
|
|
|
|
|
|
| An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. |
|
|
|
|
|
|
|
|
|
| The clinical features of the Cohen syndrome: further case reports. |
|
|
|
|
|
|
|
|
|
| A case of suspected teratogenic holoprosencephaly. |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of chromosome 2. |
|
|
|
|
|
|
|
|
|
| Alkaptonuria |
|
|
|
|
|
|
|
|
|
| Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene. |
|
|
|
|
|
|
|
|
|
| Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome. |
|
|
|
|
|
|
|
|
|
| High incidence of Meckel's syndrome in Gujarati Indians. |
|
|
|
|
|
|
✓ |
|
Gujarati Indians |
| Interstitial deletion of chromosome 7p detected antenatally. |
|
|
|
|
|
|
|
|
|
| A possible mechanism underlying the sex selectivity of neural tube defect. |
|
|
|
|
|
|
|
|
|
| HLA antigens in South African Afrikaners with heterozygous familial hypercholesterolaemia. |
|
|
|
|
|
|
✓ |
|
Afrikaners |
| The human Y chromosome. |
|
|
|
|
|
|
|
|
|
| Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. |
|
|
|
|
|
|
|
|
|
| Sacrococcygeal teratoma and normal alphafetoprotein concentration in amniotic fluid. |
|
|
|
|
|
|
|
|
|
| Attitudes of Asian families to genetic counselling. |
|
|
|
|
|
|
|
|
|
| Immunogenetic studies in families with rheumatoid arthritis and autoimmune thyroid disease. |
|
|
|
|
|
|
|
|
|
| Should women at high risk of neural tube defect have an amniocentesis? |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe. |
|
|
|
|
|
|
|
|
|
| The acetylator phenotypes of Saudi Arabian diabetics. |
|
|
|
|
|
|
|
|
|
| Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination. |
|
|
|
|
|
|
|
|
|
| Investigation of human chromosome polymorphisms by scanning electron microscopy. |
|
|
|
|
|
|
|
|
|
| A family with three independent autosomal translocations associated with 7q32----7qter syndrome. |
|
|
|
|
|
|
|
|
|
| Partial trisomy 12q24.31----qter. |
|
|
|
|
|
|
|
|
|
| Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis |
|
|
|
|
|
|
|
|
|
| A pedigree study of perinatally lethal renal disease. |
|
|
|
|
|
|
|
|
|
| The frequency of lactase phenotypes in Aymara children. |
|
|
|
|
|
|
|
|
|
| Monosomy 13q32.3----qter: report of two cases. |
|
|
|
|
|
|
|
|
|
| Familial occurrence of a pseudodicentric chromosome 21. |
|
|
|
|
|
|
|
|
|
| Erroneous theories of sex determination. |
|
|
|
|
|
|
|
|
|
| An hypothesis regarding the origin of aneuploidy in man: indirect evidence from an experimental model. |
|
|
|
|
|
|
|
|
|
| Interstitial deletion of the long arm of chromosome 11. |
|
|
|
|
|
|
|
|
|
| Interstitial deletion 2q24.3: case report with high resolution banding. |
|
|
|
|
|
|
|
|
|
| Clinical Atlas of Human Chromosomes |
|
|
|
|
|
|
|
|
|
| Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. |
|
|
|
|
|
|
|
|
|
| A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome. |
|
|
|
|
|
|
|
|
|
| Gene deletion in an Italian haemophilia B subject. |
|
|
|
|
|
|
✓ |
|
Italian |
| Complex translocation in a boy with trichorhinophalangeal syndrome. |
|
|
|
|
|
|
|
|
|
| Triple aneuploidy |
|
|
|
|
|
|
|
|
|
| Genetic Analysis of the Cell Surface |
|
|
|
|
|
|
|
|
|
| The Hereditary Ataxias and Related Disorders |
|
|
|
|
|
|
|
|
|
| Classroom teaching in genetics and birth defects: the Nottingham experience. |
|
|
|
|
|
|
|
|
|
| Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. |
|
|
|
|
|
|
|
|
|
| The genetic control of phenformin 4-hydroxylation. |
|
|
|
|
|
|
|
|
|
| Philtrum length, intercommissural distance, and ear measurements in newborn infants. |
|
|
|
|
|
|
|
|
|
| Stanley Walker, BSc, PhD |
|
|
|
|
|
|
|
|
|
| The Harvey Lectures Series 78 (1982-1983) |
|
|
|
|
|
|
|
|
|
| Black Caribs. A Case Study in Biocultural Adaptation |
|
|
|
|
|
|
|
|
|
| Issues and Reviews in Teratology |
|
|
|
|
|
|
|
|
|
| Plasmid Technology |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| Increased frequency of lymphocytic mitotic non-disjunction in recurrent spontaneous aborters. |
|
|
|
|
|
|
|
|
|
| Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy. |
|
|
|
|
|
|
|
|
|
| Abstracts of the meeting of the Clinical Genetics Society held on 8, 9, and 10 November 1984 at the Royal Free Hospital, London |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| Catalogue of Unbalanced Chromosome Aberrations in Man |
|
|
|
|
|
|
|
|
|
| A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology. |
|
|
|
|
|
|
|
|
|
| Evaluation of haematological findings in 50 Bahraini patients with sickle cell disease and in some of their parents. |
|
|
|
|
|
|
|
|
|
| Clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. |
|
|
|
|
|
|
|
|
|
| Practical Genetic Counselling |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| Marcella O'Grady Boveri (1865-1950) and the chromosome theory of cancer. |
|
|
|
|
|
|
|
|
|
| Report of the UKEMS Sub-Committee on Guidelines for Mutagenicity Testing |
|
|
|
|
|
|
|
|
|
| Genetics and Neurology |
|
|
|
|
|
|
|
|
|
| The Biology of Idiotypes |
|
|
|
|
|
|
|
|
|
| Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence. |
|
|
|
|
|
|
|
|
|
| A new brachydactyly syndrome with similarities to Julia Bell types B and E. |
|
|
|
|
|
|
|
|
|
| Genetics and biochemical variability of variants of 21 hydroxylase deficiency. |
|
|
|
|
|
|
|
|
|
| Osmotic fragility test in heterozygotes for alpha and beta thalassaemia. |
|
|
|
|
|
|
|
|
|
| The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. |
|
|
|
|
|
|
✓ |
|
English family |
| Partial 2p deletion in a girl with a complex chromosome rearrangement involving chromosomes 2, 6, 11, and 21. |
|
|
|
|
|
|
|
|
|
| Periconceptional vitamin supplementation and the prevention of neural tube defects. |
|
|
|
|
|
|
|
|
|
| HLA antigens in psoriasis and psoriatic arthritis. |
|
|
|
|
|
|
|
|
|
| The Laboratory Diagnosis of Selected Inborn Errors of Metabolism |
|
|
|
|
|
|
|
|
|
| Ectodermal dysplasias: a clinical and genetic study |
|
|
|
|
|
|
|
|
|