| The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. |
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| The acrocallosal syndrome in a Turkish boy. |
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| Report of the MRC Working Party on children conceived by in vitro fertilisation. |
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| Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction |
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| Imprinting and Angelman's syndrome |
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| Delivery of genetic services. |
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| Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected. |
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| Distal long arm deletions of the X chromosome and ovarian failure |
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| Marfan syndrome. |
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| An apparent de novo terminal deletion of chromosome 2 (pter----p24:). |
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| A workshop on Marfan syndrome, 10 June 1989, Farmington, CT, USA. |
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| Beyond Conception: The New Politics of Reproduction |
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| Cystic Fibrosis |
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| Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family. |
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| Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. |
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| Trisomy 10p syndrome owing to maternal pericentric inversion. |
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| Recurrence of acheiria in a second cousin: extremely large pedigrees may include 'second cases' by chance. |
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| Hypohidrotic ectodermal dysplasia with hypothyroidism |
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| Correction |
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| Cancer family syndrome: cytogenetic investigations, in vitro tetraploidy, and biomarker studies in a large family. |
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| Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. |
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| Genes and epilepsy. |
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| Chromosome imbalance, normal phenotype, and imprinting. |
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| Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter). |
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| Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus. |
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| DNA markers near the cystic fibrosis locus: further analysis of the British population. |
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✓ |
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British population |
| De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. |
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| Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities. |
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| Options for prenatal testing for Huntington's disease using linked DNA probes. |
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| Oculocerebrocutaneous syndrome. |
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| Guide to Molecular Cloning Techniques |
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| Statistics with Confidence. Confidence Intervals and Statistical Guidelines |
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| Genetics of the Epilepsies |
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| A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male. |
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| Leiomyosarcoma in a patient with trisomy 8 mosaicism. |
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| Teaching of clinical genetics in Britain: a report from the Royal College of Physicians of London. |
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| A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew |
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| Estimate of germinal mosaicism in Duchenne muscular dystrophy. |
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| Alagille syndrome and deletion of 20p. |
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| Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations. |
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| Two brothers with heart defects and limb shortening: case reports and review. |
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| Anaphase lag as the most likely mechanism for monosomy X in direct cytotrophoblasts but not in mesenchymal core cells from the same villi. |
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| Multiple pterygium syndrome: a relatively common disorder among Arabs. |
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✓ |
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Arabs |
| Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. |
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| Angelman's syndrome, abnormality of 15q11-13, and imprinting. |
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| Cardiovascular studies in the mucopolysaccharidoses. |
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| Identical twins discordant for Kallmann's syndrome. |
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| Molecular Genetics |
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| Alphafetoprotein in midtrimester Down's syndrome fetal serum. |
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| Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA. |
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| Kyphomelic dysplasia: the first 10 cases. |
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| The SNATIATION reflex. |
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| 100+ Principles of Genetics |
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| Prenatal Diagnosis in Obstetric Practice |
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| Chromosome Abnormalities and Genetic Counselling |
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| X-Linked Mental Retardation 3 |
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| Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. |
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| Median clefting of the upper lip associated with cutaneous polyps. |
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| The Selfish Gene |
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| Segregation analysis of dominant osteogenesis imperfecta in Italy. |
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| Genetic services in Hong Kong. |
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| Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst |
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| Molecular Probes--Technology and Medical Applications |
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| No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18. |
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| Cystic fibrosis screening and community genetics. |
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| The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in t |
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| Genetic analysis of treated and untreated phenylketonuria in one family. |
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| Sotos syndrome. |
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| Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male. |
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| Symposium on genomic imprinting, Manchester |
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| Genes IV |
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| An epidemiological and genetic study of congenital profound deafness in Tunisia (governorate of Nabeul). |
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| Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene. |
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| Monozygotic twins with trisomy 18: a report of discordant phenotype. |
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| The Ichthyoses. A Guide to Clinical Diagnosis, Genetic Counselling, and Therapy |
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| Adrenoleucodystrophy: a molecular genetic study in five families. |
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| Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy. |
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| Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. |
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| Genetic services in Britain: a strategy for success after the National Health Service and Community Care Act 1990. |
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| Dilemmas in counselling: the EEC syndrome. |
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| A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures. |
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| Unilateral disomy as a possible explanation for Russell-Silver syndrome. |
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| A video presentation `Talking about Tay-Sachs' |
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| Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115. |
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| Cranial hemihypertrophy and neurodevelopmental prognosis. |
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| Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation. |
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| Osteoglophonic dysplasia. |
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| Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case. |
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| HLA in Narcolepsy |
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| Human Achondroplasis--A Multi-disciplinary Approach |
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| The value of investigation for genetic counselling in tuberous sclerosis. |
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| Attitudes of general practitioners to presymptomatic testing for Huntington's disease. |
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| Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. |
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| A constitutional 5q23 deletion. |
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| Fetal brain disruption sequence: a milder variant. |
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| Genetics of Neuropsychiatric Disease |
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| X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. |
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| A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. |
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| Restrictive dermopathy: a report of three cases. |
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| Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia. |
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| Molecular Biology of the Eye: Genes, Vision, and Ocular Disease |
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| Human Chromosomes--Manual of Basic Techniques |
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| Human Gene Mapping 10 |
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| Genetic Variants and Strains of the Laboratory Mouse |
|
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| Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome). |
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| Winglets of the eye: dominant transmission of early adult pterygium of the conjunctiva. |
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| Garrod's Inborn Factors in Disease |
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|
|
| Handbook of Normal Physical Measurements |
|
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|
|
| Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy. |
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| The Townes-Brocks syndrome. |
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| Familial Alzheimer's Disease. Molecular Genetics and Clinical Perspectives |
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|
|
| On the variable effect of mosaic normal/balanced chromosomal rearrangements in man |
|
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| How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. |
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| Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. |
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| The polymerase chain reaction: current and future clinical applications. |
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| Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum. |
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| A family study of congenital X linked sideroblastic anaemia. |
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| Ethical issues policy statement on Huntington's disease molecular genetics predictive test. International Huntington Association. World Federation of Neurology. |
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| Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. |
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| Poland's syndrome associated with growth hormone deficiency. |
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| Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. |
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|
|
| Polymerase chain reaction (PCR) on fixed necropsy material. |
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| A consortium approach to molecular genetic services. Scottish Molecular Genetics Consortium. |
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| Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy. |
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| Pancreatic function and gene deletion F508 in cystic fibrosis. |
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| Deletion analysis of DMD/BMD families from the German Democratic Republic and selected regions of Czechoslovakia and Hungary. |
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| Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. |
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| Craniodiaphyseal dysplasia. |
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| Triploidy arising from a first meiotic non-disjunction in a mother carrying a reciprocal translocation. |
|
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| Identification of a balanced translocation carrier by spouse's low maternal serum alpha fetoprotein associated with an aneuploid fetus. |
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|
| A 90 kb DNA deletion associated with neurofibromatosis type 1. |
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| Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia). |
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| Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis. |
|
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|
| A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA. |
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|
✓ |
|
Chinese |
| Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. |
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| Microphthalmia with single central incisor and hypopituitarism. |
|
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| A case of atelosteogenesis. |
|
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| Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. |
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| Paraplegia and arthrogryposis multiplex of the lower extremities after intrauterine exposure to ergotamine. |
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| Angelman's syndrome. |
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|
|
| Letters to the Editor |
|
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|
|
| A linkage study of a large pedigree with X linked centronuclear myopathy. |
|
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|
| An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics. |
|
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|
|
| Segregation analysis of peripheral neurofibromatosis (NF1). |
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|
|
| The Coffin-Siris syndrome. |
|
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|
| Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. |
|
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|
|
| Facial measurements in the newborn (towards syndrome delineation) |
|
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|
|
| A general diagram of the human genome. |
|
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|
|
| CHILD + ILVEN = PEN or PENCIL. |
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| Proteus syndrome: report of a case with severe brain impairment and fatal course. |
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| EL BUSCA and the value of signals in the diagnosis of dysmorphic syndromes: good and bad handles in computer assisted differential diagnosis. |
|
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|
| Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. |
|
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|
| Genetics services in the community. |
|
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|
|
| Exclusion testing in pregnancy for Huntington's disease. |
|
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|
| Pachygyria, joint contractures, and facial abnormalities: a new lethal syndrome. |
|
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|
|
|
| Letters to the Editor |
|
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|
|
| The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. |
|
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|
| Repeated freezing and thawing of peripheral blood and DNA in suspension: effects on DNA yield and integrity. |
|
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|
|
| Deletion Xp22.3. |
|
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|
|
| Families with X linked liver glycogenosis owing to phosphorylase kinase deficiency |
|
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|
|
| Genetic Risks. A Reference for Eye Care Practitioners |
|
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|
|
| Huntington's disease testing: what and what not to tell. |
|
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|
| Genetic Analysis of Tumour Suppression |
|
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|
|
| Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). |
|
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|
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|
|
| Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome. |
|
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|
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|
|
| The Nance-Horan syndrome. |
|
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|
|
| Abstracts of the joint meeting of the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 19 and 20 April 1990 at University of Newcastle upon Tyne Medical School |
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|
| MASA syndrome: new clinical features and linkage analysis using DNA probes. |
|
|
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|
|
|
|
|
|
| Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome. |
|
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|
|
| Hydrolethalus syndrome. |
|
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|
|
|
|
|
|
|
| Third International Conference on Osteogenesis Imperfecta |
|
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|
|
| Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. |
|
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|
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|
|
|
| Yunis-Varon syndrome with severe osteodysplasty. |
|
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|
|
| Neuroblastoma in a patient with Sotos' syndrome. |
|
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|
| Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. |
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| Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase. |
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| Book reviews |
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| An exclusion map of Marfan syndrome. |
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| Linkage analysis in Marfan syndrome. |
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| EEC syndrome without ectrodactyly: report of two new families. |
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| Genes and Signal Transduction in Multistage Carcinogenesis |
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| Catalog of Prenatally Diagnosed Conditions |
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| Genetic Factors in Atherosclerosis: Approaches and Model Systems |
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| Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? |
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| Molecular Genetics of Muscle Disease: Duchenne and Other Dystrophies |
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| X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. |
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| Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. |
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| Partial monosomy 8p with minimal dysmorphic signs. |
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| Medical Genetics--An Illustrated Outline |
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| Consanguinity and its effect on fetal growth and development: a south Indian study. |
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| The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome. |
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| Sex linked deafness: Wilde revisited. |
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| Cornelia de Lange syndrome with ring chromosome 3. |
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| Prenatal exclusion testing for Huntington's disease. |
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| Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease? |
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| Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals? |
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| Catalog of Teratogenic Agents |
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| Linkage studies and deletion screening in choroideremia. |
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| Autosomal recessive epidermolytic palmoplantar keratoderma. |
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| Dominantly inherited cleft lip and palate. |
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| Medical genetics in Romania. |
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| 1990--more changes in the Journal |
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| The Schinzel-Giedion syndrome. |
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| Mouse and hamster mutants as models for Waardenburg syndromes in humans. |
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| Maternal-Fetal Toxicology. A Clinicians' Guide |
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| Medical genetics in South Africa. |
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| Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant. |
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| Features of Turner's and DiGeorge's syndromes with X;22 translocation. |
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| Retinitis Pigmentosa: Patients' Fight for Sight |
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| Origin of the X chromosomes in a patient with the 49,XXXXY syndrome. |
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| Abstracts of the meeting of the Clinical Genetics Society. 5 and 6 October 1989, Middlesex. |
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| World Federation of Neurology (WFN) Research Group on Huntington's Disease, Vancouver, 29 June to 2 July 1989 |
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| Becker muscular dystrophy: correlation of deletion type with clinical severity. |
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| Terminal deletion (14)(q32.3): a new case. |
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| Biochemical Genetics: A Laboratory Manual |
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| Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family. |
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| Maxillonasal dysplasia (Binder's syndrome) |
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| The genetics of idiopathic torsion dystonia. |
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| Genetic heterogeneity in tuberous sclerosis: phenotypic correlations. |
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| Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia. |
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| Chromosomal radiosensitivity of lymphocytes from Alzheimer's disease patients. |
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| Genetics of congenital nemaline myopathy: a study of 10 families. |
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| Another case of microcephaly, facial clefting, and preaxial polydactyly. |
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| Molecular Biology of the Islets of Langerhans |
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| Application of a new DNA sequence polymorphism as a genetic marker in prenatal diagnosis of phenylketonuria. |
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| In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia. |
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| Tetraploidy in a liveborn infant. |
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| Moebius syndrome. |
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| Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. |
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| Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. |
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| Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? |
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| Focal dermal hypoplasia (Goltz syndrome). |
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| The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen. |
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| Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. |
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| Wiedemann-Rautenstrauch syndrome. |
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| Popliteal pterygium syndrome. |
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| Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts. |
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| Genetic Engineering 7 |
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| Human Immunogenetics. Basic Principles and Clinical Relevance |
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| A further family with congenital renal proximal tubular dysgenesis. |
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| Mitochondrial genome: defects, disease, and evolution. |
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| Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. |
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| Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. |
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| Health visitors' awareness and perception of clinical genetic services. |
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| Dyggve-Melchior-Clausen syndrome. |
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| A new apparently folate sensitive fragile site, 5q35. |
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| Conference on gene therapy, Royal College of Physicians, London, 1 March 1990. |
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| The CHARGE association. |
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| Royal College of Physicians Report on Prenatal Diagnosis and Genetic Screening |
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| PCR Technology: Principles and Applications for DNA Amplification |
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| Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis. |
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| Genetic and environmental factors in hypospadias. |
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