| Catalog of Chromosome Aberrations in Cancer |
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| A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase. |
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| Familial mental retardation associated with balanced chromosome rearrangement rcp t(8;11)(q24.3;p15.1). |
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| Pituitary function studies in a case of mild Hunter's syndrome (MPS IIB). |
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| Dystrophy: a revised definition. |
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| Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. |
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| Informative Morphogenetic Variants in the Newborn Infant |
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| Twinning and Twins |
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| Genetic and Perinatal Effects of Abused Substances |
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| Prenatal exclusion testing for Huntington's disease: a problem of too much information. |
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| Does lumbosacral spina bifida arise by failure of neural folding or by defective canalisation? |
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| Unilateral absence of the hand in second cousins. |
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| An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations. |
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| Hirschsprung's disease, distinctive facies, and microcephaly. |
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| Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. |
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| Deletion (12)(q15q21.2). |
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| Textbook of Human Genetics |
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| Different options for prenatal testing for Huntington's disease using DNA probes. |
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| The Cytogenetics of Mammalian Autosomal Rearrangements |
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| Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts. |
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| Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales. |
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✓ |
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Gypsy population of Wales |
| De novo terminal deletion 7p22.1--pter in a child without craniosynostosis. |
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| Correspondence |
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| 21-hydroxylase deficiency families with HLA identical affected and unaffected sibs. |
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| The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community. |
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| Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue? |
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| Iris coloboma, ptosis, hypertelorism, and mental retardation. |
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| The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome. |
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| Transient nephrotic syndrome after anaesthesia resulting from a familial cryofibrinogen precipitating at 35 degrees C. |
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| A single maxillary incisor as a manifestation of an ectodermal dysplasia. |
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| Maternal translocation (9;18) with two abnormal offspring each with different chromosome derivatives. |
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| The Foundations of Human Genetics |
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| Choices, Not Chances--An Essential Guide to your Heredity and Health |
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| Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. |
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| Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips. |
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| Abnormal chromosome complement resulting from a familial inversion of chromosome 2. |
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| The Association of Physicians of Great Britain and Northern Ireland, Oxford, 14 to 15 April 1989 |
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| Childhood deaths in Down's syndrome. Survival curves and causes of death from a total population study in Queensland, Australia, 1976 to 1985. |
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| Winchester's syndrome. |
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| Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. |
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| Unknown syndrome: pachygyria, joint contractures, and facial abnormalities. |
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| Practical Genetic Counselling |
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| Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. |
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| Elements of Medical Genetics |
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| Spondyloenchondrodysplasia. |
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| Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). |
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| Abstracts of the meeting of the Clinical Genetics Society held on 22 and 23 September 1988 at the University of Aberdeen |
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| Absent or hypoplastic extraocular muscles? |
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| Demand for DNA probe testing in three genetic centres in Britain (August 1986 to July 1987). |
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| The recurrence risks for mild idiopathic mental retardation. |
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| Holoprosencephaly: variation of expression in face and brain in three sibs. |
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| Thanatophoric dysplasia in identical twins. |
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| Gastrointestinal abnormalities in the syndrome of mosaic trisomy 9. |
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| Ultrasound in the perinatal necropsy. |
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| Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. |
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| Dominant inheritance of Scheuermann's juvenile kyphosis. |
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| Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister. |
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| Genetic heterogeneity in Waardenburg's syndrome. |
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| Endocrine Genes: Analytical Methods, Experimental Approaches, and Selected Systems |
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| Duchenne Muscular Dystrophy |
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| Severe Silver-Russell syndrome. |
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| Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birth. |
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| Murderous science and the abuse of genetics |
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| Fetal Diagnosis of Genetic Defects |
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| A study of familial hypercholesterolaemia in Iceland using RFLPs. |
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| Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. |
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| Human Mating Patterns |
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| Correspondence |
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| Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes. |
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| New mutation to Huntington's disease. |
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| Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey. |
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| Deletion of chromosome 5q and familial adenomatous polyposis. |
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| Duplication 6p and deletion 9p. |
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| Teratogenicity of ergotamine. |
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| 18p- syndrome with partial sacral agenesis. |
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| Cat eye syndrome associated with aganglionosis of the small and large intestine. |
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| Unknown syndrome: congenital heart disease, ptosis, hypodontia, and craniosynostosis. |
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| Unknown syndrome in sibs: microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities. |
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| Annual Review of Genetics |
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| Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. |
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| A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. |
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| Correspondence |
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| Interstitial deletion of distal 13q associated with Hirschsprung's disease. |
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| Joseph Adams (1756-1818). |
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| Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis. |
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| Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies. |
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| Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes. |
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| Limb anomalies in the CHARGE association. |
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| Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. |
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| A third case of de novo partial trisomy 4p. |
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| Short rib syndrome without polydactyly. |
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| Van der Woude syndrome and limb defects: the chance of recurrence. |
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| Fetal valproate phenotype is recognisable by mid pregnancy. |
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| Inherited Disorders of the Skeleton |
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| Frontonasal dysplasia, congenital heart defect, and short stature: a further observation. |
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| Lethal osteogenesis imperfecta. |
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| A possible human homologue for the mouse mutant disorganisation. |
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| Disorganisation: a model for 'early amnion rupture'? |
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| Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. |
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| Research in Retinitis Pigmentosa |
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| The Prevention and Avoidance of Genetic Disease |
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| Advances in Human Genetics |
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| Evidence for genetic heterogeneity in tuberous sclerosis. |
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| Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) |
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| A non-centromeric C band variant on chromosome 11q23.2. |
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| Autosomal dominant sneezing disorder provoked by fullness of stomach. |
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| Molecular Basis of Inherited Disease |
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| Ceroid-Lipofuscinoses. Batten Disease and Allied Disorders |
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| Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. |
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| Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. |
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| Outcome of de novo balanced translocations ascertained prenatally. |
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| Genetic aspects of tuberous sclerosis in the west of Scotland. |
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| Congenital hypothyroidism, spiky hair, and cleft palate. |
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| Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease. |
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| Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1). |
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| Partial trisomy 16q secondary to a maternal 9;16 translocation. |
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| The Neural Crest |
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| A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. |
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| Thanatophoric dysplasia in identical twins. |
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| Del(4)(q33----qter): another case report of a child with mild dysmorphism. |
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| Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? |
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| Knowledge and perceptions of haemoglobinopathy carrier screening among general practitioners in Cardiff. |
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| A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation. |
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| Familial distal trisomy 8(q24.13----qter). |
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| The association of Angelman's syndrome with deletions within 15q11-13. |
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| Distribution of haptoglobin phenotypes in oesophageal and gastric cancer. |
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| Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome. |
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| Medical genetics in Israel. |
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| Interstitial deletion of 11q. |
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| Molecular genetics as a diagnostic service. |
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| Molecular genetics in the National Health Service in Britain. |
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| Genetic services in the context of DNA probes: what do they cost? |
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| Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. |
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|
| Consanguinity related prenatal and postnatal mortality of the populations of seven Pakistani Punjab cities. |
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| Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm. |
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| Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male. |
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| Toluene embryopathy: two new cases. |
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| Heterochromatin: Molecular and Structural Aspects |
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| Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. |
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| Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA. |
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| Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene. |
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| The SHORT syndrome: further delineation and natural history. |
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| Triphalangeal thumb |
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| Genome Analysis: a Practical Approach |
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| Familial translocation t(9;16). |
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| 3M dwarfism: a study of two further sibs. |
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| Further delineation of the Yunis-Varon syndrome. |
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| The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. |
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|
| The molecular basis of beta thalassaemia in Bulgaria. |
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|
| A new interstitial deletion of 4q (q21.1::q22.1). |
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|
| Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. |
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| Porencephalic cyst in pycnodysostosis. |
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| Association of 13q deletion and Hirschsprung's disease. |
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| Dominantly inherited cleft lip and palate. |
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|
|
| Advances in Human Genetics |
|
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|
| Rhodanese isozymes in three subjects with Leber's optic neuropathy. |
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| Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. |
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| Sibs with tetrasomy 18p born to a mother with trisomy 18p. |
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|
| Interstitial deletion of 2(q33q36) in a child with congenital abnormalities. |
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| X linked or autosomal recessive? A new approach to an old problem. |
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| Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. |
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| Moore-Federman syndrome and acromicric dysplasia: are they the same entity? |
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| X linked mental retardation: a family with a separate syndrome? |
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|
| Chromosome studies of males in an institution for the mentally handicapped. |
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| Current trends in the prevalence at birth of neural tube defects in Singapore. |
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| T cell receptor beta chain polymorphisms are associated with cystic fibrosis. |
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| Fragile X testing in a diagnostic cytogenetics laboratory. |
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| Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys. |
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| A case of two inversion (10) recombinants in a family. |
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| An exclusion map for facioscapulohumeral (Landouzy-Dejerine) disease. |
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| Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. |
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| A genetic linkage study of facioscapulohumeral (Landouzy-Dejerine) disease with 24 polymorphic DNA probes. |
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| Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. |
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|
| Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? |
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| Angelman's syndrome and 15q11-13 deletions. |
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| Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man. |
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| Osteoglophonic dysplasia. |
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| Duplication of distal 17q from a maternal translocation: an additional case with some unique features. |
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| Abstracts of the meeting of the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 30 and 31 March 1989 at the University of Southampton |
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| Reproductive behaviour and consistent patterns of abnormality in offspring of Vietnam veterans |
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| The Developing Human. Clinically Oriented Embryology |
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| Medical Genetics Handbook |
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| Johanson-Blizzard syndrome. |
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| Apple peel syndrome in sibs. |
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| Alternate centromere inactivation in a pseudodicentric (15;20)(pter;pter) associated with a progressive neurological disorder. |
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| Central nervous system malformations in Mohr's syndrome. |
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| Updated results of the thalassaemia prevention programme carried out in Latium. |
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| Issues and Reviews in Teratology |
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| Medical Genetics: Principles and Practice |
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| Nucleic Acid Probes in Diagnosis of Human Genetic Diseases |
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| Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis. |
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| Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features. |
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| Genetic studies on a new deficiency gene (PI*Ztun) at the PI locus. |
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| Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. |
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| Features of Turner's and DiGeorge's syndromes in a child with an X;22 translocation. |
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| Discordant, non-syndromic, congenital diaphragmatic defects in sibs. |
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| Are abortions more or less frequent once prenatal diagnosis is available? |
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| Correspondence |
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| Vascular Birthmarks: Pathogenesis and Management |
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| Genetics and Alzheimer's Disease |
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| European Society for Human Genetics. Satellite meeting on meiotic microspreading |
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| Familial supravalvular aortic stenosis: a genetic study. |
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| Correspondence |
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| Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus. |
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| Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. |
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| Abstracts of the meeting of the Association of Clinical Cytogeneticists held on 5 to 7 July 1988 in Edinburgh |
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| Benign muscular dystrophy: risk calculation in families with consanguinity. |
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| Mapping our Genes. Genome Projects: How Big, How Fast? |
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| Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. |
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| Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. |
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| Single base pair alterations as the predominant category of mutation in type I osteogenesis imperfecta. |
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| Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes |
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| Kyphomelic dysplasia. |
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| Linkage analysis of French families with facioscapulohumeral muscular dystrophy. |
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| A workshop on facioscapulohumeral (Landouzy-Dejerine) disease, Manchester, 16 to 17 November 1988. |
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| Anencephaly: a vanishing problem in Bedouins? |
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| Recent Advances in Ectodermal Dysplasias |
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| The clinical significance of de novo structural rearrangements and markers detected prenatally by amniocentesis |
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| A case of interstitial deletion of 10q25.2----q26.1. |
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| Cancer Cytogenetics |
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| Emery-Dreifuss syndrome. |
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| Interstitial deletion, del(4)(q33q35.1), in a mother and two children. |
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| Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. |
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| Cystic fibrosis: after the gene. |
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| Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers. |
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| A hungarian study on Werdnig-Hoffmann disease. |
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| Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion. |
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| Three different, non-mosaic sex chromosome abnormalities (direct cytotrophoblasts, mesenchymal core cultures, and abortus skin fibroblasts): implications for elucidating chorionic villi mosaicism. |
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| Prader-Willi Syndrome: Selected Research and Management Issues |
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| Stickler's syndrome. |
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| Is there an autosomal recessive form of the split hand and split foot malformation? |
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| A new syndrome of autosomal recessive nephropathy, deafness, and hyperparathyroidism. |
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| Fertility in a male with trisomy 21. |
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| Neural tube defect recurrence after 'partial' vitamin supplementation. |
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| A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis. |
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| The Status of the Human Embryo: Perspectives from Moral Tradition |
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| Dominantly inherited cleft lip and palate in two families. |
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| Cranioectodermal dysplasia (Sensenbrenner's syndrome). |
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| Testing for cystic fibrosis using allelic association. |
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| Sibs lacking characteristic features of duplication of distal 17q. |
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| Ring chromosome 15 in a patient with features of Fryns' syndrome. |
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| Duchenne muscular dystrophy in Wales: a 15 year study, 1971 to 1986. |
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| Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening. |
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| Moebius' syndrome with unilateral cerebellar hypoplasia. |
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