| A simple method for calculating risks before DNA analysis. |
|
|
|
|
|
|
|
|
|
| Human Gene Mapping 9 |
|
|
|
|
|
|
|
|
|
| Molecular Biology of Homo Sapiens |
|
|
|
|
|
|
|
|
|
| Topics in Pediatric Genetic Pathology. The Enid Gilbert-Barness Festschrift |
|
|
|
|
|
|
|
|
|
| Ectrodactyly in sisters and half sisters. |
|
|
|
|
|
|
|
|
|
| Duchenne Muscular Dystrophy |
|
|
|
|
|
|
|
|
|
| Intellectual development in Apert's syndrome: a long term follow up of 29 patients. |
|
|
|
|
|
|
|
|
|
| Familial polyposis coli: no evidence for increased sensitivity to mitomycin C. |
|
|
|
|
|
|
|
|
|
| Unknown syndrome: mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip. |
|
|
|
|
|
|
|
|
|
| Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family. |
|
|
|
|
|
|
✓ |
|
French-Canadian family |
| Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype. |
|
|
|
|
|
|
|
|
|
| Human Genetics and Medicine |
|
|
|
|
|
|
|
|
|
| Veterinary Genetics |
|
|
|
|
|
|
|
|
|
| Cleft lip and palate, lower lip pits, and limb deficiency defects. |
|
|
|
|
|
|
|
|
|
| Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q. |
|
|
|
|
|
|
|
|
|
| Service experience using DNA analysis for genetic prediction in Duchenne muscular dystrophy. |
|
|
|
|
|
|
|
|
|
| Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. |
|
|
|
|
|
|
|
|
|
| Teratogen Update: Environmentally Induced Birth Defect Risks |
|
|
|
|
|
|
|
|
|
| A new high activity plasma cholinesterase variant. |
|
|
|
|
|
|
|
|
|
| Is the expression of fra(2)(q13) age dependent? |
|
|
|
|
|
|
|
|
|
| Eleven new cases of del(9p) and features from 80 cases. |
|
|
|
|
|
|
|
|
|
| Reserpine is not a human teratogen. |
|
|
|
|
|
|
|
|
|
| The Molecular Basis of Blood Diseases |
|
|
|
|
|
|
|
|
|
| Dyskeratosis congenita. |
|
|
|
|
|
|
|
|
|
| Localisation of human alpha globin to 16p13.3----pter. |
|
|
|
|
|
|
|
|
|
| Murderous Science--Elimination by Scientific Selection of Jews, Gypsies, and others, Germany 1933-1945 |
|
|
|
|
|
|
|
|
|
| Familial ectopic ossification. |
|
|
|
|
|
|
|
|
|
| Fryns syndrome. |
|
|
|
|
|
|
|
|
|
| Possible evidence for genetic predisposition to nondisjunction in man. |
|
|
|
|
|
|
|
|
|
| Can Schizophrenia be Localized in the Brain? |
|
|
|
|
|
|
|
|
|
| An autosomal dominant multiple pterygium syndrome. |
|
|
|
|
|
|
|
|
|
| Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. |
|
|
|
|
|
|
|
|
|
| Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. |
|
|
|
|
|
|
|
|
|
| Unusual dual genital duct remnants in true hermaphroditism. |
|
|
|
|
|
|
|
|
|
| Correspondence |
|
|
|
|
|
|
|
|
|
| Linkage analysis of X linked retinitis pigmentosa in the Irish population. |
|
|
|
|
|
|
|
|
|
| Clinical consequences of deletion 1p35. |
|
|
|
|
|
|
|
|
|
| A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features. |
|
|
|
|
|
|
|
|
|
| Martsolf's syndrome in a non-Jewish boy. |
|
|
|
|
|
|
|
|
|
| Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly. |
|
|
|
|
|
|
|
|
|
| Abstracts of the meeting of the Clinical Genetics Society. 20 and 21 November 1987, London. (Joint meeting with the Skeletal Dysplasia Group) |
|
|
|
|
|
|
|
|
|
| Advances in Human Genetics |
|
|
|
|
|
|
|
|
|
| A lethal short rib syndrome without polydactyly. |
|
|
|
|
|
|
|
|
|
| Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect. |
|
|
|
|
|
|
|
|
|
| Clinical features and reproductive patterns in fragile X female heterozygotes. |
|
|
|
|
|
|
|
|
|
| The influence of culture media on chromosome aberration levels, sister chromatid exchange frequencies, and the rate of cell proliferation: comparison of Iscove's low folate medium with Eagle's MEM. |
|
|
|
|
|
|
|
|
|
| Translocation (1;22) in a child with bilateral oblique facial clefts. |
|
|
|
|
|
|
|
|
|
| The value of the study of natural history in genetic disorders and congenital anomaly syndromes. |
|
|
|
|
|
|
|
|
|
| Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. |
|
|
|
|
|
|
|
|
|
| Are 'upper' and 'lower' neural tube defects aetiologically different? |
|
|
|
|
|
|
|
|
|
| Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias. |
|
|
|
|
|
|
|
|
|
| The telecanthus-hypospadias syndrome. |
|
|
|
|
|
|
|
|
|
| Pycnodysostosis. |
|
|
|
|
|
|
|
|
|
| Considerations in using linkage analysis as a presymptomatic test for Huntington's disease. |
|
|
|
|
|
|
|
|
|
| Anticipation in Huntington's disease is inherited through the male line but may originate in the female. |
|
|
|
|
|
|
|
|
|
| Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency. |
|
|
|
|
|
|
|
|
|
| Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. |
|
|
|
|
|
|
|
|
|
| Trisomy 3p23----pter and monosomy 11q23----qter in an infant with two translocation carrier parents. |
|
|
|
|
|
|
|
|
|
| Correction |
|
|
|
|
|
|
|
|
|
| Genetic Risk, Risk Perception, and Decision Making |
|
|
|
|
|
|
|
|
|
| Medical genetics around the world |
|
|
|
|
|
|
|
|
|
| The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency. |
|
|
|
|
|
|
|
|
|
| VATER association: report of a case with three unreported malformations. |
|
|
|
|
|
|
|
|
|
| Noonan syndrome. |
|
|
|
|
|
|
|
|
|
| Increased sharing of maternal HLA haplotypes among children exposed to diphenylhydantoin during pregnancy. |
|
|
|
|
|
|
|
|
|
| Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family. |
|
|
|
|
|
|
|
|
|
| Arachnoid cysts in a brother and sister. |
|
|
|
|
|
|
|
|
|
| Counselling for prenatal diagnosis of sickle cell disease and beta thalassaemia major: a four year experience. |
|
|
|
|
|
|
|
|
|
| Carrier detection through the use of abnormal deletion junction fragments in a case of haemophilia B involving complete deletion of the factor IX gene. |
|
|
|
|
|
|
|
|
|
| Long arm deletion of chromosome 22. |
|
|
|
|
|
|
|
|
|
| Familial transmission of autosomal whole arm translocation. |
|
|
|
|
|
|
|
|
|
| Genetics and Epithelial Cell Dysfunction in Cystic Fibrosis |
|
|
|
|
|
|
|
|
|
| The Genetics of Renal Tract Disorders |
|
|
|
|
|
|
|
|
|
| Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea. |
|
|
|
|
|
|
|
|
|
| Interstitial deletion 2q32.1----q34 in a child with half normal activity of ribulose 5-phosphate 3-epimerase (RPE). |
|
|
|
|
|
|
|
|
|
| Craniofrontonasal dysplasia. |
|
|
|
|
|
|
|
|
|
| Lysosomal Storage Disease: Biochemical and Clinical Aspects |
|
|
|
|
|
|
|
|
|
| Genetic Aspects of Developmental Pathology |
|
|
|
|
|
|
|
|
|
| Family size limitation: a method for demonstrating recessive inheritance. |
|
|
|
|
|
|
|
|
|
| Interstitial deletion (6) (q11----q15) in an infant with congenital abnormalities. |
|
|
|
|
|
|
|
|
|
| Duchenne muscular dystrophy in one of monozygotic twin girls |
|
|
|
|
|
|
|
|
|
| Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma. |
|
|
|
|
|
|
|
|
|
| Autosomal recessive inheritance of Nager acrofacial dysostosis. |
|
|
|
|
|
|
|
|
|
| Prenatal Diagnosis of Heritable Skin Diseases |
|
|
|
|
|
|
|
|
|
| Screening for fetal and genetic abnormality: social and ethical issues. |
|
|
|
|
|
|
|
|
|
| The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance. |
|
|
|
|
|
|
|
|
|
| Primer of Genetic Analysis |
|
|
|
|
|
|
|
|
|
| John Dalton (1766-1844). |
|
|
|
|
|
|
|
|
|
| Use of computers in dysmorphology. |
|
|
|
|
|
|
|
|
|
| Molecular approaches to dysmorphology. |
|
|
|
|
|
|
|
|
|
| Holoprosencephaly and postaxial polydactyly: another observation. |
|
|
|
|
|
|
|
|
|
| Mitochondrial myopathy: a genetic study of 71 cases. |
|
|
|
|
|
|
|
|
|
| Trisomy 18 syndrome with cleft foot. |
|
|
|
|
|
|
|
|
|
| Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy. |
|
|
|
|
|
|
|
|
|
| Prospective prenatal screening for fetal abnormalities using a quantitative immunoassay for acetylcholinesterase. |
|
|
|
|
|
|
|
|
|
| Abstracts of the meeting of the Clinical Genetics Society held on 7 and 8 April 1988 at the University of Oxford |
|
|
|
|
|
|
|
|
|
| Polymorphic acetylation of sulphamethazine in a Zimbabwe population. |
|
|
|
|
|
|
|
|
|
| Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. |
|
|
|
|
|
|
|
|
|
| Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome. |
|
|
|
|
|
|
|
|
|
| Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome) |
|
|
|
|
|
|
|
|
|
| A recognisable short stature syndrome with premature aging and pigmented naevi. |
|
|
|
|
|
|
|
|
|
| Two whole arm reciprocal translocations. |
|
|
|
|
|
|
|
|
|
| The population genetics of Duchenne muscular dystrophy. |
|
|
|
|
|
|
|
|
|
| Annual Review of Genetics |
|
|
|
|
|
|
|
|
|
| The Man Behind the Syndrome |
|
|
|
|
|
|
|
|
|
| Evolution from Molecules to Men |
|
|
|
|
|
|
|
|
|
| Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. |
|
|
|
|
|
|
|
|
|
| Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus. |
|
|
|
|
|
|
|
|
|
| Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. |
|
|
|
|
|
|
|
|
|
| Mucosal neuromata syndrome (MEN type IIb (III)). |
|
|
|
|
|
|
|
|
|
| A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation. |
|
|
|
|
|
|
|
|
|
| Human chromosome 8. |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations. |
|
|
|
|
|
|
|
|
|
| The oculocerebrocutaneous (Delleman) syndrome. |
|
|
|
|
|
|
|
|
|
| Pubertal development in partial trisomy 14q. |
|
|
|
|
|
|
|
|
|
| Malay Archipelago |
|
|
|
|
|
|
|
|
|
| The abuse of genetics. Lessons from the past, lessons for the future |
|
|
|
|
|
|
|
|
|
| A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. |
|
|
|
|
|
|
|
|
|
| Congenital spinal deformity in a three generation family. |
|
|
|
|
|
|
|
|
|
| Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis. |
|
|
|
|
|
|
|
|
|
| Is geroderma osteodysplastica underdiagnosed? |
|
|
|
|
|
|
|
|
|
| Achondroplasia in sibs of normal parents. |
|
|
|
|
|
|
|
|
|
| A combinatorial method for grouping cases with multiple malformations. |
|
|
|
|
|
|
|
|
|
| Correspondence |
|
|
|
|
|
|
|
|
|
| Human Genes and Diseases |
|
|
|
|
|
|
|
|
|
| Planning for a Healthy Baby: A Guide to Genetic and Environmental Risks |
|
|
|
|
|
|
|
|
|
| A reappraisal of the CHARGE association. |
|
|
|
|
|
|
|
|
|
| Terminal deletion of chromosome 1(q43) in a female infant. |
|
|
|
|
|
|
|
|
|
| Klippel-Trenaunay-Weber syndrome (angio-osteohypertrophy syndrome). |
|
|
|
|
|
|
|
|
|
| De novo partial trisomy 15q (proximal type). |
|
|
|
|
|
|
|
|
|
| Sorsby syndrome: a report on further generations of the original family. |
|
|
|
|
|
|
|
|
|
| Non-opposable triphalangeal thumb in an Italian family. |
|
|
|
|
|
|
✓ |
|
Italian |
| Complete absence of external genitalia in limb-body wall complex: two cases. |
|
|
|
|
|
|
|
|
|
| Partial gene duplication in Duchenne and Becker muscular dystrophies. |
|
|
|
|
|
|
|
|
|
| Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. |
|
|
|
|
|
|
|
|
|
| New autosomal recessive faciodigitogenital syndrome. |
|
|
|
|
|
|
|
|
|
| Oculotrichodysplasia (OTD): a new probably autosomal recessive condition. |
|
|
|
|
|
|
|
|
|
| Microdeletion syndromes, balanced translocations, and gene mapping. |
|
|
|
|
|
|
|
|
|
| Dysmorphic syndromes with demonstrable biochemical abnormalities. |
|
|
|
|
|
|
|
|
|
| Pseudoxanthoma elasticum (Gronblad-Strandberg syndrome). |
|
|
|
|
|
|
|
|
|
| Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. |
|
|
|
|
|
|
|
|
|
| Pierre Louis Moreau de Maupertuis (1698-1759). |
|
|
|
|
|
|
|
|
|
| Leucocyte Typing III: White Cell Differentiation Antigens |
|
|
|
|
|
|
|
|
|
| Sequential sampling in clinical cytogenetics: a quality control viewpoint. |
|
|
|
|
|
|
|
|
|
| A probably distinct autosomal recessive thoraco-limb dysplasia. |
|
|
|
|
|
|
|
|
|
| Linkage analysis of manic depression in an Irish family using H-ras 1 and INS DNA markers. |
|
|
|
|
|
|
|
|
|
| Oncology and Immunology of Down Syndrome |
|
|
|
|
|
|
|
|
|
| Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. |
|
|
|
|
|
|
|
|
|
| Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. |
|
|
|
|
|
|
|
|
|
| Royal Society discussion meeting: Prevention and Avoidance of Genetic Disease, held on 29 to 30 April 1987 at the Royal Society. |
|
|
|
|
|
|
|
|
|
| Expression of fragile X chromosome and possible deletion in successive cell divisions. |
|
|
|
|
|
|
|
|
|
| A Clinician's View of Neuromuscular Diseases |
|
|
|
|
|
|
|
|
|
| Malformations in Children from One to Seven Years. A Report from the Collaborative Perinatal Project |
|
|
|
|
|
|
|
|
|
| The Hemoglobinopathies |
|
|
|
|
|
|
|
|
|
| The Developmental Field Concept |
|
|
|
|
|
|
|
|
|
| Practical Genetics |
|
|
|
|
|
|
|
|
|
| Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. |
|
|
|
|
|
|
|
|
|
| Late replication studies and esterase D levels in a case of unbalanced X;autosome translocation, 46,X,t(X;13)(q27;q12). |
|
|
|
|
|
|
|
|
|
| Chromosome subband 17p11.2 deletion: a minute deletion syndrome. |
|
|
|
|
|
|
|
|
|
| Autosomal dominant isolated ('uncomplicated') microcephaly. |
|
|
|
|
|
|
|
|
|
| Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. |
|
|
|
|
|
|
|
|
|
| Recent Advances in Inborn Errors of Metabolism |
|
|
|
|
|
|
|
|
|
| The map of chromosome 20. |
|
|
|
|
|
|
|
|
|
| Reproductive behaviour and consistent patterns of abnormality in offspring of Vietnam veterans. |
|
|
|
|
|
|
|
|
|
| Another family with the 'Habsburg jaw'. |
|
|
|
|
|
|
|
|
|
| The Mammalian Y Chromosome: Molecular Search for the Sex-Determining Factor |
|
|
|
|
|
|
|
|
|
| A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. |
|
|
|
|
|
|
|
|
|
| Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22). |
|
|
|
|
|
|
|
|
|
| Human Genetic Diseases: A Practical Approach |
|
|
|
|
|
|
|
|
|
| Genetic and Population Studies in Wales |
|
|
|
|
|
|
|
|
|
| In Vitro Fertilisation: Past, Present and Future |
|
|
|
|
|
|
|
|
|
| Norrie disease resulting from a gene deletion: clinical features and DNA studies. |
|
|
|
|
|
|
|
|
|
| Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues. |
|
|
|
|
|
|
|
|
|
| Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. |
|
|
|
|
|
|
|
|
|
| The frequency of consanguineous marriage among British Pakistanis. |
|
|
|
|
|
|
|
|
|
| Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8). |
|
|
|
|
|
|
|
|
|
| Genetic Disease: Screening and Management |
|
|
|
|
|
|
|
|
|
| Monoclonals and DNA Probes in Diagnostic and Preventive Medicine |
|
|
|
|
|
|
|
|
|
| Chorion Villus Sampling |
|
|
|
|
|
|
|
|
|
| Exclusion of calcitonin as a candidate gene for the basic defect in a family with autosomal dominant supravalvular aortic stenosis. |
|
|
|
|
|
|
|
|
|
| Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy. |
|
|
|
|
|
|
|
|
|
| Type I Gaucher disease. |
|
|
|
|
|
|
|
|
|
| Malformation syndromes: a review of mouse/human homology. |
|
|
|
|
|
|
|
|
|
| Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. |
|
|
|
|
|
|
|
|
|
| The Child with Multiple Birth Defects |
|
|
|
|
|
|
|
|
|
| A new centromeric heteromorphism in the short arm of chromosome 20. |
|
|
|
|
|
|
|
|
|
| Genetics and Malformations in Art |
|
|
|
|
|
|
|
|
|
| Medical genetics in Hungary. |
|
|
|
|
|
|
|
|
|
| The Chromosomes and Their Disorders. An Introduction for Clinicians |
|
|
|
|
|
|
|
|
|
| Gametogenesis and the Early Embryo |
|
|
|
|
|
|
|
|
|
| A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto). |
|
|
|
|
|
|
|
|
|
| Prediction of consanguinity using human DNA fingerprints. |
|
|
|
|
|
|
|
|
|
| Heterogeneity of familial porphyria cutanea tarda. |
|
|
|
|
|
|
|
|
|
| Simultaneous occurrence of heritable t(3;7) and t(14;21) in two sibs. |
|
|
|
|
|
|
|
|
|
| A new variant of chromosome 3 with unusual staining properties. |
|
|
|
|
|
|
|
|
|
| The European School of Medical Genetics, Sestri Levante (Genoa), 6 to 12 April 1988 |
|
|
|
|
|
|
|
|
|
| Fetal and Neonatal Pathology |
|
|
|
|
|
|
|
|
|
| Biological Activities of Alpha1-fetoprotein |
|
|
|
|
|
|
|
|
|
| Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34. |
|
|
|
|
|
|
|
|
|
| Abstracts of the Annual Scientific Meeting of the Association of Clinical Cytogeneticists held on 30 June to 2 July 1987 at Wills Hall, University of Bristol |
|
|
|
|
|
|
|
|
|
| Alpha 1 antitrypsin deficiency. |
|
|
|
|
|
|
|
|
|
| Genetic Disorders and the Fetus |
|
|
|
|
|
|
|
|
|
| The Dysmorphic Child: An Orthopedic Perspective |
|
|
|
|
|
|
|
|
|
| Neuromuscular Diseases |
|
|
|
|
|
|
|
|
|
| Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. |
|
|
|
|
|
|
|
|
|
| King's Fund Forum Screening for Fetal and Genetic Abnormality The need for a British Association for Genetic Medicine |
|
|
|
|
|
|
|
|
|
| Clinical, haematological, and genetic studies of type 2 normal Hb A2 beta thalassaemia. |
|
|
|
|
|
|
|
|
|
| Sclerosteosis. |
|
|
|
|
|
|
|
|
|
| De novo 10q23 interstitial deletion. |
|
|
|
|
|
|
|
|
|
| A family showing apparent X linked inheritance of both anencephaly and spina bifida. |
|
|
|
|
|
|
|
|
|
| Expression of fra(10)(q25) in peripheral blood and bone marrow in familial neutropenia. |
|
|
|
|
|
|
|
|
|
| Hypothyroidism and sex chromosomes. |
|
|
|
|
|
|
|
|
|
| The Balance of Improbabilities: A Scientific Life |
|
|
|
|
|
|
|
|
|
| The Correspondence of Charles Darwin |
|
|
|
|
|
|
|
|
|
| Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia. |
|
|
|
|
|
|
|
|
|
| Are double translocations double trouble? |
|
|
|
|
|
|
|
|
|
| The Coffin-Lowry syndrome. |
|
|
|
|
|
|
|
|
|
| Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome. |
|
|
|
|
|
|
|
|
|
| Trisomy 3 mosaicism in a patient with Bartter syndrome. |
|
|
|
|
|
|
|
|
|
| Current Concepts in Craniofacial Anomalies. A Symposium in Honour of Joseph J Bonner |
|
|
|
|
|
|
|
|
|
| Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency. |
|
|
|
|
|
|
|
|
|
| C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes. |
|
|
|
|
|
|
|
|
|
| A developing role in genetic counselling. |
|
|
|
|
|
|
|
|
|
| Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. |
|
|
|
|
|
|
|
|
|
| A further patient with the lethal type of Larsen syndrome. |
|
|
|
|
|
|
|
|
|
| Molecular Approaches to Human Polygenic Disease |
|
|
|
|
|
|
|
|
|
| Cytogenetics of Mammalian Embryonic Development |
|
|
|
|
|
|
|
|
|
| Sickle Cell Anemia and Thalassemia. A Primer for Health Care Professionals |
|
|
|
|
|
|
|
|
|
| Molecular genetics of neurological and neuromuscular disease |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of inv(X)(q12q28) in a male fetus. |
|
|
|
|
|
|
|
|
|
| Perinatal Genetics: Diagnosis and Treatment |
|
|
|
|
|
|
|
|
|
| A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. |
|
|
|
|
|
|
|
|
|
| Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? |
|
|
|
|
|
|
|
|
|
| Beta thalassaemia mutations in Turkish Cypriots. |
|
|
|
|
|
|
|
|
|
| Mammalian Development: A Practical Approach |
|
|
|
|
|
|
|
|
|
| Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. |
|
|
|
|
|
|
|
|
|
| Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. |
|
|
|
|
|
|
✓ |
|
Negro |
| Analysis of Human Genetic Linkage |
|
|
|
|
|
|
|
|
|
| Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. |
|
|
|
|
|
|
|
|
|
| Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy. |
|
|
|
|
|
|
|
|
|
| Anomalous X chromosome inactivation: the link between female zygotes, monozygotic twinning, and neural tube defects? |
|
|
|
|
|
|
|
|
|
| Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns. |
|
|
|
|
|
|
|
|
|
| Medical genetics in China. |
|
|
|
|
|
|
|
|
|
| Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome. |
|
|
|
|
|
|
|
|
|
| Screening for fetal and genetic abnormality: social and ethical issues. |
|
|
|
|
|
|
|
|
|
| Genetic markers on chromosome 7. |
|
|
|
|
|
|
|
|
|
| Birth defects following maternal exposure to ergotamine, beta blockers, and caffeine. |
|
|
|
|
|
|
|
|
|
| Editorial |
|
|
|
|
|
|
|
|
|
| Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo. |
|
|
|
|
|
|
|
|
|
| Syndactyly, ectodermal dysplasia, and cleft lip and palate. |
|
|
|
|
|
|
|
|
|
| Triphalangeal thumb. |
|
|
|
|
|
|
|
|
|
| Identification of the E1fE1k cholinesterase genotype. |
|
|
|
|
|
|
|
|
|
| Russell-Silver syndrome. |
|
|
|
|
|
|
|
|
|
| Sickle Cell Disease |
|
|
|
|
|
|
|
|
|
| Alport's syndrome. |
|
|
|
|
|
|
|
|
|
| Prenatal diagnosis of mosaicism for del(18)(q12.2q21.1) and a normal cell line. |
|
|
|
|
|
|
|
|
|
| Cystic Fibrosis: The Facts |
|
|
|
|
|
|
|
|
|