| Familial Scheuermann disease: a genetic and linkage study. |
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| Comments on important topics from papers in other journals: Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene |
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| Comments on important genetic topics from papers in other journals: X linked recessive nephrolithiasis with renal failure |
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| Book reviews |
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| Annual Review of Genetics |
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| Medical genetics: advances in brief |
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| Medical genetics: advances in brief: Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero |
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| Patent ductus arteriosus in four generations of a family. |
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| Linkage disequilibrium between D16S94 and the locus for adult polycystic kidney disease (PKD1) |
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| Medical genetics: advances in brief: Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression |
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| Medical genetics: advances in brief |
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| Medical genetics: advances in brief: Antenatal maternal serum screening for Down's syndrome: results of a demonstration project |
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| Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data. |
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| Severity of chest disease in cystic fibrosis patients in relation to their genotypes. |
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| Comments on important genetic topics from papers in other journals: Review of neonatal screening programme for phenylketonuria |
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| Comments on important genetic topics from papers in other journals: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules |
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| The New Genetics and Clinical Practice |
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| A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study. |
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| Family history and risk of breast cancer. |
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| Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. |
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| Abstracts of the annual scientific meeting of the Association of Clinical Cytogeneticists held on 3 to 5 July 1991 at Earnshaw Hall, Sheffield |
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| Medical genetics: advances in brief: Standards for selected anthropometric measurements in Prader-Willi syndrome |
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| MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families. |
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| Cystic Fibrosis |
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| Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome? |
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| Abstracts of the Joint British Medical Genetics meeting organised by the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 19 and 20 September 1991 at the University of Bri |
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| Chromosome Anomalies and Prenatal Development: An Atlas |
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| Familial screening for genetic haemochromatosis by means of DNA markers. |
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| Medical genetics: advances in brief: Iron overload in Africa |
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| The Triumph of the Embryo |
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| Catalog of Chromosome Aberrations in Cancer |
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| Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. |
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| Linkage of epidermolysis bullosa simplex to keratin gene loci. |
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| Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome. |
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| Molecular Mechanisms and their Clinical Application in Malignancies |
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| Screening for phenylketonuria in a totalitarian state. |
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| Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation. |
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| Williams syndrome and chromosome 18. |
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| Analysis of Human Genetic Linkage |
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| The human genome project and medical genetics. |
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| UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders. |
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| What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation. |
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| Unbalanced 13;18 translocation and Williams syndrome. |
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| Comments on important genetic topics from papers in other journals: Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution |
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| Genes for intelligence on the X chromosome. |
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| Another human homologue for the mouse mutant disorganisation. |
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| The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs. |
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| A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. |
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| Medical genetics: advances in brief |
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| Medical genetics: advances in brief: Linkage of type 2 diabetes to the glucokinase gene |
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| Medical genetics: advances in brief: Presymptomatic testing for Huntington's disease in the United Kingdom |
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| Instability versus predictability: the molecular diagnosis of myotonic dystrophy. |
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| High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia. |
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✓ |
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Lebanese |
| Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease). |
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| Early Fetal Diagnosis: Recent Progress and Public Health Implication |
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| Medical Genetics in Canada: Evolution of a Hybrid Discipline. Essays on the Early History |
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| Causes of death in patients with Huntington's disease and in unaffected first degree relatives. |
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| Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. |
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| Medical genetics: advances in brief: Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis |
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| The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. |
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| Multiple mutation in an extended Duchenne muscular dystrophy family. |
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| Jablonski's Dictionary of Syndromes and Eponymic Diseases |
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| Fetal hydrops. |
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| A new form of infantile spinal muscular atrophy. |
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| Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese. |
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| Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1). |
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| Medical genetics: advances in brief: Early bacteriologic, immunologic and clinical courses of young infants with cystic fibrosis identified by neonatal screening |
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| Principles and practicalities of carrier screening: attitudes of recent parents. |
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| Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)). |
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| Brachydactyly type C associated with shortening of the hallux. |
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| Atypical case of Aarskog syndrome. |
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| The molecular genetics of Alport syndrome: report of two workshops. |
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| Medical genetics: advances in brief |
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| Medical genetics: advances in brief: p53 germline mutations in Li-Fraumeni syndrome |
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| X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. |
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| Antenatal Diagnosis of Fetal Abnormalities |
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| Molecular genetics of neurological tumours. |
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| Experience with direct molecular diagnosis of fragile X. |
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| No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. |
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| The 3-M syndrome: risk of intracerebral aneurysm? |
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| The demonstration of monozygosity in twins discordant for sacral agenesis. |
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| Palmoplantar hyperkeratosis and deafness. |
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| Racial distribution of Duchenne muscular dystrophy in the West Midlands region of Britain. |
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| Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. |
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| Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles. |
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| Investigation of a female manifesting Becker muscular dystrophy. |
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| Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. |
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| Medical genetics: advances in brief: Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study |
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| Medical genetics: advances in brief: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy |
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| Medical genetics: advances in brief: Girls with fragile X syndrome: physical and neurocognitive status and outcome |
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| Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. |
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| New dysmorphic features in Rubinstein-Taybi syndrome. |
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| Effects of genetic screening on perceptions of health: a pilot study. |
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| Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. |
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| Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? |
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| Comments on important genetic topics from papers in other journals: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients |
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| Screening and genetic counselling for relatives of patients with breast cancer in a family cancer clinic. |
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| Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. |
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| Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs. |
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| Familial postaxial acrofacial dysostosis syndrome. |
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| Medical genetics: advances in brief: Familial case with sequence variant in the testis-determining region associated with two sex phenotypes |
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| Medical genetics: advances in brief: Amplification of a gene encoding a p53-associated protein in human sarcomas |
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| Annual Review of Genetics |
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| Minimal expression of myotonic dystrophy: a clinical and molecular analysis. |
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| Expansion of the myotonic dystrophy gene in Italian and Spanish patients. |
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| Editor's note |
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| Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. |
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|
French ancestry |
| Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. |
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| De novo inverted duplication of chromosome 7q |
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| A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. |
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| Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome. |
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| Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame. |
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| Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. |
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| Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family. |
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| Comments on important genetic topics from papers in other journals: Localisation of the gene encoding the GABAa receptor 3 subunit to the Angelman/Prader-Willi region of human chromosome 15 |
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| Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata. |
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| Therapy for Genetic Disease |
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| The Diffusion Of Four Prenatal Screening Tests Across Europe |
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| London Neurogenetics Database |
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| Sensorineural deafness inherited as a tissue specific mitochondrial disorder. |
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| Chromosome in situ suppression hybridisation in human male meiosis. |
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| An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. |
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| Distal spinal muscular atrophy with vocal cord paralysis. |
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| Medical genetics: advances in brief: Diagnosis of genetic disease using recombinant DNA. Third edition |
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| Medical genetics: advances in brief: Couple screening for cystic fibrosis |
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| Medical genetics: advances in brief: Minisatellite repeat coding as a digital approach to DNA typing |
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| Medical genetics: advances in brief: Monozygotic twins discordant for the major signs of McCune-Albright syndrome |
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| Genetic Disorders of the Skin |
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| Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. |
|
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| Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene. |
|
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| A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1. |
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| Medical genetics: advances in brief: Molecular analysis of X linked agammaglobulinemia with growth hormone deficiency |
|
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| Prenatal cystic fibrosis carrier testing: designing an information leaflet to meet the specific needs of the target population. |
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| Oculoauriculovertebral spectrum and cerebral anomalies. |
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| Monosomy 10qter: a new case. |
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| A de novo insertion, detected prenatally, with normal phenotype. |
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| DNA Fingerprinting: Approaches and Applications |
|
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| Medical genetics: advances in brief: Detection of full fragile X mutation |
|
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|
| International Nomenclature of Diseases. Vol VI. Metabolic, Nutritional and Endocrine Disorders |
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| National haemophilia B molecular genetic register. |
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| 18p- syndrome and hypopituitarism. |
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| Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? |
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| Medical genetics: advances in brief: Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion |
|
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| Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. |
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| Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes. |
|
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| Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. |
|
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|
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|
|
| Comments on important genetic topics from papers in other journals: Disease and evolution |
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| Sex ratios of affected and transmitting members of multiple case families with neural tube defects. |
|
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| A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. |
|
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| Extravillus dividing fetal cells at CVS: evidence of their erythroblastic origin. |
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| De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome. |
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| Medical genetics: advances in brief: Recombination of 4p16 DNA markers in an unusual family with Huntington disease |
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| The Human Genome |
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| The Seeds of Time |
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| Fetal and Perinatal Neurology |
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| Intestinal pseudo-obstruction in myotonic dystrophy. |
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| Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'. |
|
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|
|
|
| Polyglandular autoimmune syndrome type I among Iranian Jews. |
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| An atypical form of mucolipidosis III. |
|
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| Preimplantation Genetics |
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| A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. |
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| Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. |
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| Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group. |
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| Constitutional ring chromosomes and tumour suppressor genes. |
|
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| The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. |
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| Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. |
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| Cyclophosphamide increases the frequency of sister chromatid exchange in direct preparations of human chorionic villi in the absence of supplementary enzymatic activation systems. |
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| Recurrence of neural tube defect in a group of at risk women: a 10 year study of Pregnavite Forte F. |
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| Unusual T cell clones in a patient with Nijmegen breakage syndrome. |
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| Comments on important genetic topics from papers in other journals: The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various population |
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| Meckel syndrome and neural tube defects in Kuwait. |
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| Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. |
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| Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? |
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| Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. |
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| Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13. |
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| Interstitial deletion of the distal long arm of chromosome 4. |
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| Fragile X syndrome: as common as first thought? |
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| Genes, Brain and Behavior |
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| Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. |
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| Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus. |
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| A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study. |
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| Acromegaloid facial appearance (AFA) syndrome: report of a second family. |
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| Recurrence of orbital cysts in the branchio-oculo-facial syndrome. |
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| Terminal 22q deletion associated with a partial deficiency of arylsulphatase A. |
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| Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. |
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| Genetic deafness. |
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| Hereditary haemorrhagic telangiectasia: a clinical analysis. |
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| Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). |
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| Genetic mapping of X linked ocular albinism: linkage analysis in British families. |
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| Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis. |
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| Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism. |
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| Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency. |
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| Medical genetics: advances in brief: Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families |
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| Chromosomal localisation of a pseudoautosomal growth gene(s). |
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| Mutation analysis of 184 cystic fibrosis families in Wales. |
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| X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? |
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| A mutation in exon 7 of the CFTR gene is common in the western part of France. |
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| Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families. |
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| Charcot-Marie-Tooth disease type 1. |
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| Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. |
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| Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies. |
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| The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). |
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| Recognition of thalidomide defects. |
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| Postgraduate teaching in clinical genetics in the United Kingdom. |
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| Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. |
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| Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. |
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| Trisomy 15 mosaicism in an IVF fetus. |
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| Premature chromosome condensation in a child with trisomy 21. |
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| Medical genetics: advances in brief: Of mice and men: genetic skin diseases of keratin |
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| Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy. |
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| Factors affecting the uptake of prenatal diagnosis for sickle cell disease. |
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| Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis. |
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| Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel |
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| Dr Richard Herbert Lindenbaum, FRCP, 9.7.33-10.4.92 |
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| Medical genetics: advances in brief: Maternal inheritance of atopic IgE responsiveness on chromosome 11q |
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| Medical genetics: advances in brief: Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis |
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| Medical genetics: advances in brief |
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| Ovarian cancer family and prophylactic choices. |
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| Comments on important genetic topics from papers in other journals: The molecular basis of the undulated/Pax-1 mutation |
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| Comments on important genetic topics from papers in other journals: Obstructive sleep apnoea in children with Down syndrome |
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| Comments on important genetic topics from papers in other journals: GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families |
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| Comments on important genetic topics from papers in other journals: Non-paternity and prenatal genetic screening |
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| Comments on important genetic topics from papers in other journals: Association of nm23-H1 allelic deletions with distant metastases in colorectal carcinoma |
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| Sociocultural problems in genetic counselling. |
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| Congenital Chromosome Aberrations and Tumor Predisposition |
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| Genetics and Human Nutrition |
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| Marfan syndrome: a mystery solved. |
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| Marfan syndrome in a large family: response of family members to a screening programme. |
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| Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans. |
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| Epidemiology of breast cancer in families in Iceland. |
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| Unusual occurrence of cervical myelopathy in a case of Stickler's syndrome. |
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| Medical genetics: advances in brief: Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers |
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| Screening of microdeletions of chromosome 20 in patients with Alagille syndrome. |
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| The orocraniodigital syndrome of Juberg and Hayward. |
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| Medical genetics: advances in brief: Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population |
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| Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel |
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| Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. |
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| Medical genetics: advances in brief: Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder |
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| 49,XXXXY syndrome: behavioural and developmental profiles. |
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| Introduction to Risk Calculation in Genetic Counselling |
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| Use of oocytes from anonymous, matched, fertile donors for prevention of heritable genetic diseases. |
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| Ovarian cancer family and prophylactic choices. |
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| An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis. |
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| Cardiofaciocutaneous syndrome with new ectodermal manifestations. |
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| Medical genetics: advances in brief: Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene |
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| (1) Facts about Cornelia de Lange syndrome. (2) Facing the Challenges. A Parents' Guide to Cornelia de Lange Syndrome. (3) Cornelia de Lange Syndrome Foundation Album 1989-90 |
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| The use of DNA from paraffin wax preserved tissue for predictive diagnosis in familial adenomatous polyposis. |
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| Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. |
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| High proportion of twins in carriers of fragile X syndrome. |
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| Molecular Genetic Approaches to Neuropsychiatric Diseases |
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| X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. |
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| Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects. |
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|
|
|
| Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family. |
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|
✓ |
|
Scottish family |
| Medical genetics: advances in brief: Abnormal regulation of mammalian p21ras contributes to malignant tumour growth in von Recklinghausen (type 1) neurofibromatosis |
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| Medical genetics: advances in brief: Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR |
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| Beckwith-Wiedemann syndrome. |
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| A TaqI map of the dystrophin gene useful for deletion and carrier status analysis. |
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| The cyclops and the mermaid: an epidemiological study of two types of rare malformation. |
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|
| Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. |
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| Schwartz-Jampel syndrome (chondrodystrophic myotonia). |
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| Reply |
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| Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. |
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| Report of ENMC workshop on the limb-girdle muscular dystrophies. |
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| Medical genetics: advances in brief: Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents |
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| Medical genetics: advances in brief: Value of routine ultrasound scanning at 19 weeks: a four year study of 8849 deliveries |
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|
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| Huntington's Disease |
|
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|
|
|
| Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. |
|
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|
|
✓ |
|
✓ |
|
European; Japanese populations |
| Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. |
|
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|
|
| Medical genetics: advances in brief: Six-year results of a randomised prospective trial of human growth hormone and oxandrolone in Turner syndrome |
|
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| A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. |
|
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|
| Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. |
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| Medical genetics: advances in brief: Integration of human -satellite DNA into simian chromosomes: centromere protein binding and disruption of normal chromosome segregation |
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| Reply |
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|
| Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. |
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|
|
|
| Cystic fibrosis mutations delta F508 and G542X in Jewish patients. |
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|
| Comments on important genetic topics from papers in other journals: Prospects for homologous recombination in human gene therapy |
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|
|
|
| Comments on important genetic topics from papers in other journals: Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat |
|
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| Fertility in a male with trisomy 21. |
|
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|
|
| Clinical consequences of deletion 1p35 |
|
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|
| Prenatal prediction of spinal muscular atrophy. |
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|
| Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1. |
|
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|
| Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome. |
|
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|
|
| Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. |
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| Evidence that Rieger syndrome maps to 4q25 or 4q27. |
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| Genatlas |
|
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| X linked progressive cone dystrophy with specific attention to carrier detection. |
|
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|
| Late onset dominant cone dystrophy with early blue cone involvement. |
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| Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. |
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|
| Weaver syndrome. |
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| Medical genetics: advances in brief: Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities |
|
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|
|
|
|
|
| The Identification of the CF (Cystic Fibrosis) Gene: Recent Progress and New Research Strategies |
|
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|
|
|
| Genome Analysis. Volume 1. Genetic and Physical Mapping |
|
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|
| Hereditary Tumors |
|
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|
| Distal 8p deletion (8p23.1----8pter): a common deletion? |
|
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|
| Angelman syndrome. |
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| Medical genetics: advances in brief: Mitochondrial encephalopathies with the mutation of the mitochondrial tRNALeu(UUR) |
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| Medical genetics: advances in brief: Expression of members of the putative olfactory receptor gene family in mammalian germ cells |
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|
| Medical genetics: advances in brief: In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium |
|
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|
| Genetic transmission of colorectal cancer: exploratory data analysis from a population based registry. |
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|
| Molecular diagnosis of Turner's syndrome. |
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| Medical genetics: advances in brief: Levels of naturally occuring DNA polymorphism correlate with recombination rates in D melanogaster |
|
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|
|
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|
|
|
| A clinical and genetic database for management of familial adenomatous polyposis. |
|
|
|
|
|
|
|
|
|
| Phenotype-genotype correlations in X linked retinitis pigmentosa. |
|
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|
|
|
|
|
|
|
| Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16. |
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|
|
| Medical genetics: advances in brief: Cloning of cDNAs for Fanconi's anaemia by functional complementation |
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|
|
| Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus |
|
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|
| Practical Genetics |
|
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|
| The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. |
|
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|
|
|
|
|
|
| A new X linked syndrome with mental retardation and craniofacial dysmorphism? |
|
|
|
|
|
|
|
|
|
| The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. |
|
|
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|
|
|
|
|
|
| Presymptomatic diagnosis of myotonic dystrophy. |
|
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|
|
|
|
|
|
| Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. |
|
|
|
|
|
|
|
|
|
| Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications. |
|
|
|
|
|
|
✓ |
|
Japanese |
| Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium. |
|
|
|
|
|
|
|
|
|
| The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency. |
|
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|
|
|
|
✓ |
|
South Africans of Indian descent |
| Correction |
|
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|
|
|
|
|
|
|
| Aspects of Oral Molecular Biology |
|
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|
|
|
|
|
|
|
| Advanced Techniques in Chromosome Research |
|
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|
|
|
|
|
|
| Family history of breast cancer: how important is it? |
|
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|
|
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|
|
|
| Genetic Data Analysis. Methods for Discrete Population Genetic Data |
|
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|
|
| Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females. |
|
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|
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|
|
|
| Age at onset and life table risks in genetic counselling for Huntington's disease. |
|
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| A strategy for the rapid isolation of new PCR based DNA polymorphisms. |
|
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|
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|
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|
| The Baller-Gerold syndrome. |
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|
|
| Medical genetics: advances in brief: Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme E1 |
|
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|
|
|
| Hypoglossia-hypodactyly syndrome with hydrocephalus. |
|
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|
|
| Cone and cone-rod dystrophies. |
|
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|
|
|
| Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? |
|
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|
|
| Symposium on epidermolysis bullosa. |
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|
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|
|
| The Colonization of the Pacific |
|
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|
|
|
|
| Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? |
|
|
|
|
|
|
|
|
|
| Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. |
|
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| Eugenics, Human Genetics and Human Failings: The Eugenics Society, its Sources and its Critics in Britain |
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| Parental origin of extra chromosomes in persons with X chromosome tetrasomy. |
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| A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model. |
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| Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. |
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| The acrocallosal syndrome and Greig syndrome are not allelic disorders. |
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| Identification of a new DMD gene deletion by ectopic transcript analysis. |
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| Principles of Genetics |
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