| Autosomal recessive or sex linked recessive: a counselling dilemma. |
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| Genetic analysis of malformations causing perinatal mortality. |
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| Familial inv(1)(p36.3q12) associated with sterility. |
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| A study of retinitis pigmentosa in the city of Birmingham. |
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| A pedigree study of perinatally lethal renal disease. |
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| Mosaic trisomy 9. |
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| Type II syndactyly or synpolydactyly. |
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| Did the Hb G San Jose gene arise in Sicily? |
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| Evolutionary Biology |
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| Robinow syndrome without mesomelic 'brachymelia': a report of five cases. |
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| DNA probes or microvillar enzymes or both for prenatal diagnosis of cystic fibrosis. |
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| Genetic and Metabolic Disease in Pediatrics |
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| Gene Expression During Normal and Malignant Differentiation |
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| Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2). |
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| Pitfalls in prenatal diagnosis of beta thalassaemia. |
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| Abstracts of the meeting of the Clinical Genetics Society held at the University of Wales College of Medicine, Cardiff, on 18 and 19 April 1986 |
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| Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy. |
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| Linkage studies in Duchenne and Becker muscular dystrophies. |
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| DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. |
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| Dubowitz syndrome. |
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| Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi. |
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| Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum. |
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| Umbilical cord hernia in a child with autosomal recessive chondrodysplasia punctata. |
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| Trisomy 14 mosaicism in a 2 year old girl. |
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| Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. |
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| An Atlas of Characteristic Syndromes |
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| Abnormal haemoglobins among pregnant women from Mozambique. |
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| A Noonan-like short stature syndrome with sparse hair. |
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| Duchenne muscular dystrophy in a female with a translocation involving Xp21. |
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| Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. |
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| Cornelia de Lange syndrome. |
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| Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia. |
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| Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism. |
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| Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype. |
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| Addendum |
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| Genetics |
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| Human Prenatal Diagnosis |
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| Cystic fibrosis carrier detection using a linked gene probe. |
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| Differentiation of heterozygotes in recessive albinism. |
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| Genetic Biochemical Disorders |
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| An Introduction to Inherited Metabolic Diseases |
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| Medical genetics in China: a western view. |
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| Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). |
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| The effects of severe mixed environmental pollution on human chromosomes. |
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| Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy. |
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| Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. |
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| Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster. |
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| Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. |
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| Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells. |
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| A case of Fryns syndrome. |
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| Prune belly appearance in a Turner subject. |
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| Mutation, Cancer and Malformation |
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| Molecular Genetics of Common Metabolic Disease |
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| Familial polyposis coli: growth characteristics of karyotypically variable cultured fibroblasts, response to epidermal growth factor and the tumour promoter 12-0-tetradecanoyl phorbol-13-acetate. |
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| Abstracts of the meeting of the Clinical Genetics Society held at the Clinical Research Centre, Northwick Park Hospital, London on 8 and 9 November 1985 |
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| Molecular euphoria. |
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| Tel Hashomer camptodactyly syndrome: report of a case with myopathic features. |
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| Principles of Gene Manipulation. An Introduction to Genetic Engineering |
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| Chemical Mutagens. Principles and Methods for their Detection |
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| Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. |
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| Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc). |
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| Pregnancy wastage associated with paracentric inversion of chromosome 13. |
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|
| An Introduction to Recombinant DNA |
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| Sister Chromatid Exchanges. Part A. The Nature of SCEs. Part B. Genetic Toxicology and Human Studies |
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| Replication status of fragile X(q27.3) in 13 female heterozygotes. |
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| Segregation of a t(3;20) translocation through three generations resulting in unbalanced karyotypes in six persons. |
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| Partial trisomy 7 (q32----qter) syndrome in two children. |
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| Three children with partial trisomy 1q and partial monosomy 3p. |
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| A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome. |
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| Muscular dystrophy in girls with X;autosome translocations. |
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| The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy. |
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| A register based system for gene tracking in Duchenne muscular dystrophy. |
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| X linked muscular dystrophy with contractures. |
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| Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. |
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| Gene mapping and chromosome 19. |
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| X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. |
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| A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information. |
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|
|
| Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy. |
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| Abstracts of the annual scientific meeting of the Association of Clinical Cytogeneticists held at the University of Newcastle upon Tyne on 3 and 4 July 1985 |
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| Chimeras in Developmental Biology |
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| Monosomy 8p: an easily overlooked syndrome. |
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| The relationship between the acetylator and the sparteine hydroxylation polymorphisms. |
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| Multifocal meningiomas in a patient with a constitutional ring chromosome 22. |
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| Of mice and men, metals and mutations. |
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| Molecular genetics of human chromosome 4. |
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|
| Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome). |
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| Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta. |
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| Bone marrow and peripheral blood globin chain synthesis in sickle cell beta zero thalassaemia. |
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|
| Trisomy 18 in a 13 year old girl. |
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| The Van der Woude syndrome (dominantly inherited lip pits and clefts). |
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| The birth prevalence rates for the skeletal dysplasias. |
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|
|
| Basic Cloning Techniques. A Manual of Experimental Procedures |
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|
|
| The frequency of the fragile X chromosome among schoolchildren in Coventry. |
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| A de novo X;13 translocation with abnormal phenotype. |
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|
|
| Molecular deletion analysis in Duchenne muscular dystrophy. |
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|
|
| Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. |
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|
|
| Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis. |
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|
|
| Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. |
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| The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. |
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|
|
| Chromosome 1 in relation to human disease. |
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| An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia. |
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| Possible Waardenburg syndrome with gastrointestinal anomalies. |
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|
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| Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement. |
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| Partial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation. |
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|
| DNA polymorphic haplotypes on the short arm of chromosome 11 and the inheritance of type I diabetes mellitus. |
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| Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. |
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|
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| Is reserpine a human teratogen? |
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|
|
| Outcome after prenatal detection of a sporadic, unstable translocation t(5;21). |
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|
| Branched Chain Amino and Keto Acids in Health and Disease |
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|
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| DNA prediction in cystic fibrosis. |
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|
|
| Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B. |
|
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|
|
| Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. |
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|
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| Risk estimation in autosomal dominant disorders with reduced penetrance. |
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| Genetic heterogeneity in Gaucher disease. |
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| Aetiological factors in hypospadias. |
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|
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| Ratio of crown-rump distance to total length in preterm and term infants. |
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|
|
| A case of de novo, double, balanced translocations (distal 9p to 3p, distal 18q to 3q). |
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|
|
| A pericentric inversion duplication of the subcentromeric region of chromosome 12q. |
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|
|
| Partial trisomy 1q25----qter. |
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|
| Secondary amenorrhoea and 47,XX,i(Xq) karyotype. |
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|
|
| Report on meeting on molecular studies of inherited cancer syndromes |
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|
|
| Congenital Metabolic Diseases |
|
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|
|
| Craniofacial Dysmorphology: Studies in Honor of Samuel Pruzansky |
|
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|
|
| Atlas of Skeletal Dysplasias |
|
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|
|
| Williams syndrome. |
|
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| Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship. |
|
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|
|
| Terminal deletion of the long arm of chromosome 10. |
|
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|
|
| Editorial |
|
|
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|
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|
|
| Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. |
|
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|
|
| Editorial |
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|
| First trimester diagnosis from chorionic villi of a der(15),t(9;15)(q33;q14)mat identified by DA/DAPI staining. |
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| A three way translocation in mother and daughter. |
|
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| The orofaciodigital (OFD) syndromes. |
|
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|
| Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). |
|
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|
|
| A new epsilon globin HincII variant fragment length in a South African Negroid family. |
|
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|
✓ |
|
Negroid |
| Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. |
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|
| Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. |
|
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|
|
✓ |
|
Arabs |
| The estimation of risks from the induction of recessive mutations after exposure to ionising radiation. |
|
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|
|
| Freeman-Sheldon syndrome: a disorder of congenital myopathic origin? |
|
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|
|
| Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia. |
|
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|
|
| Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings. |
|
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|
|
| A male infant with the Catel-Manzke syndrome and dislocatable knees. |
|
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|
|
| Annual Review of Immunology |
|
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|
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|
|
|
| Fragile Sites on Human Chromosomes |
|
|
|
|
|
|
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|
|
| Family Studies in Genetic Disorders |
|
|
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|
|
| A paracentric inversion of 7q illustrating a possible interchromosomal effect. |
|
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|
|
| Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. |
|
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|
|
|
| Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. |
|
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|
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|
|
| Interstitial deletion of chromosome 4q diagnosed prenatally. |
|
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|
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|
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|
|
| Necropsy findings in a child with FG syndrome. |
|
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|
|
|
|
|
|
| Clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. |
|
|
|
|
|
|
|
|
|
| The Y Chromosome. Part A: Basic Characteristics of the Y Chromosome |
|
|
|
|
|
|
|
|
|
| Genetic Engineering--Principles and Methods |
|
|
|
|
|
|
|
|
|
| A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19. |
|
|
|
|
|
|
|
|
|
| A new strategy for mapping the human genome. |
|
|
|
|
|
|
|
|
|
| The elusive muscular dystrophy gene. Fifth Muscular Dystrophy Group Workshop on the X chromosome and muscular dystrophies, April 1986 |
|
|
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|
|
|
|
|
|
| Duchenne muscular dystrophy in one of monozygotic twin girls. |
|
|
|
|
|
|
|
|
|
| The screening of Duchenne muscular dystrophy patients for submicroscopic deletions. |
|
|
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|
|
|
|
|
|
| A computer programme to calculate risk in X linked disorders using multiple marker loci. |
|
|
|
|
|
|
|
|
|
| Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. |
|
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|
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|
|
| 18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings. |
|
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|
|
|
|
|
| A fragile site 10q25 in human sperm chromosomes. |
|
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|
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|
|
| Gene Expression in Muscle |
|
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|
|
|
|
|
|
| Advances in Human Genetics |
|
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|
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|
|
| Monozygotic twins concordant for congenital short femur. |
|
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|
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|
|
| Twelve families with fragile X(q27). |
|
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|
|
| Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. |
|
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|