Journal of Medical Genetics - 1993

376 articles | Last updated: 2025-12-03 14:12:57

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The Cystic Kidney
Polycystic Kidney Disease
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Disease gene mapping in isolated human populations: the example of Finland.
Long survival of a patient with Marshall-Smith syndrome without respiratory complications.
Medical genetics: advances in brief: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
Cystic Fibrosis and DNA Tests: Implications of Carrier Screening
Dystrophin analysis in idiopathic dilated cardiomyopathy.
Medical genetics: advances in brief: Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase
A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens.
Journal of Medical Genetics: Cytogenetics Editor
Molecular analysis of late onset Huntington's disease.
Microcitemie e Anemia Mediterranea
A study of DNA methylation in myotonic dystrophy.
Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk.
Medical genetics: advances in brief: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumours
Reply
Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterol
Medical genetics: advances in brief: Identification of a second pseudo-autosomal region near the Xq and Yq telomeres
Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.
Continuation of a case report.
Molecular Basis of Inherited Disease
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
Cerebellar ataxia and ectodermal dysplasia in brothers.
Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
Medical genetics: advances in brief
Deletion of chromosome 2 (p11-p13): case report and review.
Extra G positive band on the long arm of chromosome 9.
Approaches to prenatal cystic fibrosis carrier screening.
Medical genetics: advances in brief: Genetic susceptibility in familial multiple sclerosis not linked to the myelin basic protein gene
Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.
Severity of chest disease in CF patients in relation to their genotypes.
Prenatal Diagnosis and Screening
Inherited Ataxias. Advances in Neurology
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
The morbid anatomy of the human genome: chromosomal location of mutations causing disease.
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
Humeroradioulnar synostosis in a patient with lambdoid synostosis.
Waardenburg syndrome and myelomeningocele in a family.
Human Gene Mapping 11. The Eleventh International Workshop on Human Gene Mapping
DiGeorge syndrome: an historical review of clinical and cytogenetic features.
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
Orofaciodigital syndrome type III in two sibs.
Sex linked valvular dysplasia.
Medical genetics: advances in brief
Chromosome abnormalities and Williams-Beuren syndrome.
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.
Diagnostic criteria and genetics of the PEHO syndrome.
Neural tube defects: a survey of lesion descriptions made by different European pathologists.
Evidence of genetic and phenotypic heterogeneity in the Romano-Ward syndrome.
Archibald Garrod--and the Individuality of Man
Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease.
15th International World Federation of Neurology Workshop on Huntington's Disease, 31 August-3 September 1993, Boston, Massachusetts, USA.
George Huntington: the man behind the eponym.
DNA storage and duplicate sampling: lessons learnt from testing for Huntington's disease.
Heredity and Your Family's Health
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
A specific mutation for Huntington's disease.
Gametic but not somatic instability of CAG repeat length in Huntington's disease.
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.
The specialty of clinical genetics: European Society of Human Genetics survey.
Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients.
Medical genetics: advances in brief: The psychological consequences of predictive testing for Huntington's disease
Medical genetics: advances in brief: Genetic susceptibility to multiple sclerosis linked to myelin basic protein
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
Genetic background of clinical homogeneity of phenylketonuria in Poland.
Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.							✓		Filipino
Interstitial deletion of chromosome 10q23: a new case and review.
A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.
Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.
Medical genetics: advances in brief
Medical genetics: advances in brief: Molecular basis of human hypertension: the role of angiotensinogen
Sex differences in the location of a spina bifida lesion.
Genome Analysis: Genes and Phenotypes
Suicide risk in Huntington's disease.
Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.
Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.
Medical genetics: advances in brief: Prevention of the first occurrence of neural-tube defects by periconceptual vitamin supplementation
Genetics
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.
Poland anomaly with contralateral ulnar ray defect.
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
RFLP analysis for APP 717 mutations associated with Alzheimer's disease.
Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.
Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.
Frequency of delta F508 in a Mexican sample of cystic fibrosis patients.
A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
Medical genetics: advances in brief: Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Medical genetics: advances in brief: Congenital bilateral perisylvian syndrome: study of 31 patients
Molecular diagnosis of myotonic dystrophy.
The contribution of genetic factors to the pathogenesis of type I (insulin dependent) diabetes mellitus.
Our Genetic Future: The Science and Ethics of Genetic Technology
Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy.
An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.
Reply
The New Genetics of Mental Illness
Forensic medicine and the polymerase chain reaction technique.
Association and linkage: complementary strategies for complex disorders.
Origins of the fragile X syndrome mutation.
The History and Development of Human Genetics
Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities.
Medical genetics: advances in brief: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Medical genetics: advances in brief: Identification of the von Hippel-Lindau disease tumour suppressor gene
Medical genetics: advances in brief: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholester
Catalog of Prenatally Diagnosed Conditions
Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
Medical genetics: advances in brief: Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts
Upper and lower neural tube defects: an alternate hypothesis.
Severe developmental delay and multiple strawberry naevi: a new syndrome?
Medical genetics: advances in brief: Charcot-Marie-Tooth disease type 1A: association with a spontaneous mutation in the PMP22 gene
Medical genetics: advances in brief: Twin studies in medical research: can they tell us whether diseases are genetically determined?
Counselling pitfalls in Romano-Ward syndrome.
Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy.
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.
Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene.
Epidermal naevi and bullous aplasia cutis congenita in a neonate.
Medical genetics: advances in brief: Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
Medical genetics: advances in brief: Isolation of a Miller-Dieker lissencephaly gene containing G protein -subunit-like repeats
Attitudes of neurologists, psychiatrists, and psychotherapists towards predictive testing for Huntington's disease in Germany.
Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting.
Dynamic mutations on the move.
A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.							✓		French family
Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.
Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA.
Hydrocephalus in Hajdu-Cheney syndrome.
X chromosome inactivation and the diagnosis of X linked disease in females.
Mutations of the androgen receptor gene identified in perineal hypospadias.
Mapping of the X linked form of hyper IgM syndrome (HIGM1)
Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.
Hereditary anaemias in Portugal: epidemiology, public health significance, and control.
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.
Possible X linked congenital mitochondrial cardiomyopathy in three families.
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
Medical genetics: advances in brief: Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis
Medical genetics: advances in brief
The Code of Codes. Scientific and Social Issues in the Human Genome Project
Genetic Disorders and the Fetus. Diagnosis, Prevention and Treatment
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
Medical genetics: advances in brief: Association between polymorphism of the glycogen synthase gene and non-insulin-dependent diabetes mellitus
Medical genetics: advances in brief: Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome
Medical genetics: advances in brief: Investigation of inheritance of chronic inflammatory bowel disease by complex segregation analysis
Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR.
Psychosocial Aspects of Genetic Counselling
Molecular Genetics of Coronary Artery Disease: Candidate Genes and Processes in Artherosclerosis
Low segregation ratios in autosomal recessive disorders.
Isolation of the defective gene in X linked agammaglobulinaemia.
Population studies of the fragile X: a molecular approach.
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?
Corrections
Medical genetics: advances in brief: Intellectual development at age of 12 years of children with congenital hypothyroidism diagnosed by neonatal screening
Reply
Practical Molecular Virology
Psychosocial genetics: an emerging scientific discipline.
Prenatal screening for cystic fibrosis: psychological effects on carriers and their partners.
Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur Padiatrische Nephrolo
Medical genetics: advances in brief: Rubinstein-Taybi syndrome caused by submicroscopic deletions with 16p13.3
Campomelic dysplasia: evidence of autosomal dominant inheritance.
The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
A new form of familial ataxia, deafness, and mental retardation.
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.
Dominant carpotarsal osteochondromatosis.
Excess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmed.
Molecular Genetics for the Clinician
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.
Epidermal mosaicism and Blaschko's lines.
Nager acrofacial dysostosis.
Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus.
Medical genetics: advances in brief
Limb/pelvis/uterus-hypoplasia/aplasia syndrome.
Parental age, genetic mutation, and cerebral palsy.
Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.
Medical genetics: advances in brief: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
CATCH 22.
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.
Airway abnormalities in Jarcho-Levin syndrome: a report of two cases.
Prenatal diagnosis of a giant intracranial teratoma associated with pulmonary hypoplasia.
Chromosomal localisation of a gene(s) for Turner stigmata on Yp.
Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
Medical genetics: advances in brief: Mitochondrial gene mutation in isletcell-antibody-positive patients who were initially non-insulin-dependent diabetics
Skeletal malformations and polycystic kidney disease.
A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.
Mutation size and age at onset in Huntington's disease.
Huntington's disease in Grampian region: correlation of the CAG repeat number and the age of onset of the disease.
Significant linkage disequilibrium between the Huntington's disease locus and markers at loci D4S10, D4S95, and D4S111 in Northern Ireland.
Imprinting in Albright's hereditary osteodystrophy.
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
Medical genetics: advances in brief: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
Late Onset Neurometabolic Genetic Disorders
The genetics of malignant hyperthermia.
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
Community Genetics Services in Europe
Onset symptoms in 510 patients with Huntington's disease.
An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content.
A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.
Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.
Prader Willi Syndrome and Other Chromosome 15q Deletion Disorders
Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome.
Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.
Comparison of genotype and intellectual phenotype in untreated PKU patients.
A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes.
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.
Medical genetics: advances in brief: ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
The combinations of the sexes of familial cases of neural tube defect.
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.
A large family with patent ductus arteriosus and unusual face.
Edward Meryon (1809-1880) and muscular dystrophy.
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.
Perception of predictive testing for Huntington's disease by young women: preferring uncertainty to certainty?
Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy.
Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1.
Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.
Medical genetics: advances in brief: Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus
Cutis laxa and the Costello syndrome.
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
Sequence variations in the first exon of alpha-galactosidase A.
Classification of microphthalmos and coloboma.
Letters to the Editor
Human Cytogenetics: A Practical Approach
Genetic Engineering
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies.
Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis.
Congenital heart malformation in Yunis-Varon syndrome.
Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?
Autozygosity mapping, complex consanguinity, and autosomal recessive disorders.
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
Holoprosencephaly: a family showing dominant inheritance and variable expression.
Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?
Medical genetics: advances in brief
Correction
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.
Medical genetics: advances in brief
Isolation, Migration and Health
Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.
46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.
Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group.
Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.							✓		Asian; Pakistani
Chromosome 20 long arm deletion in an elderly malformed man.
Medical genetics: advances in brief
Medical genetics: advances in brief: Effects of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta
Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family.
Medical genetics: advances in brief: Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism
Medical genetics: advances in brief
Aphasia, deafness, or mental retardation.
Polydactyly: a study of a five generation Indian family.							✓		Indian
Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis.
Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?
Micromanipulation of Human Gametes and Embryos
Genetic Diversity Among Jews: Diseases and Markers at the DNA Level
George Huntington: the man behind the eponym.
Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation.
Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.
Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1
Medical genetics: advances in brief: Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma
Medical genetics: advances in brief: The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
Fetal Tissue Transplants in Medicine
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
Psychosocial issues raised by a familial ovarian cancer register.
Trisomy 10qter confirmed by in situ hybridisation.
Mild phenotypic manifestation of a 7p15.3p21.2 deletion.
Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene.
Transgenic animals
Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.
A three generation family with fibrodysplasia ossificans progressiva.
A new stable human dicentric chromosome, tdic(4;21)(p16;q22), in a woman with first trimester abortion.
Medical genetics: advances in brief: Medical genetics: advances in brief
Letters to the Editor
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
Methodology for Genetic Studies of Twins and Families
Variability of expression in tuberous sclerosis.
Exclusion of familial dysautonomia from more than 60% of the genome.
The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility.
The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.							✓		Bedouin
Medical genetics: advances in brief: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction
Medical genetics: advances in brief: Deletions within chromosome 22q11 in familial congenital heart disease
Another example favouring the location of BPES at 3q2.
A new approach to prenatal cystic fibrosis carrier screening.
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.
The Dynamic Genome - Barbara McClintock's Ideas in the Century of Genetics
Epidemiology and Control of Neural Tube Defects
Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.
X linked recessive thrombocytopenia.
Medical genetics: advances in brief: X-linked borderline mental retardation with prominent behavioural disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism
Predictive testing for Huntington's disease: after the gene. The United Kingdom Huntington's Disease Prediction Consortium.
A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?
Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.
The fragile X syndrome: no evidence for any recent mutations.
Age at onset in Huntington's disease and methylation at D4S95.
A 5' splice site mutation in fucosidosis.
Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
Workshop of the Commission of the European Communities on Ethics of Human Genome analysis: survey of the European discussion.
Molecular Genetic Medicine
Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.
The dopamine D3 receptor gene: no association with bipolar affective disorder.
Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.
Abstracts of the British Medical Genetics Conference. Nottingham, 23-25 September 1992.
Medical genetics: advances in brief: A mammalian cell cycle checkpoint utilizing p53 and GADD45 is defective in ataxia-telangiectasia
The Atlas of Mouse Development
Mendelian Inheritance in Man
A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.
Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.							✓		Omanis
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.
ICF syndrome with variable expression in sibs.
Retinoblastoma: a possible link with low level radiation.
Medical genetics: advances in brief: Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus
Medical genetics: advances in brief: Complete characterization of a large marker chromosome by reverse and forward chromosome painting
Medical genetics: advances in brief: Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy
Medical genetics: advances in brief: Experience with screening newborns for Duchenne muscular dystrophy in Wales
Absent fibula and craniosynostosis: a 25 year follow up.
Three patients with ring (X) chromosomes and a severe phenotype.
Medical genetics: advances in brief: Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation
Weyers' ulnar ray/oligodactyly syndrome.
What young people think and do when the option for cystic fibrosis carrier testing is available.
Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families.
Two sibs with unbalanced translocations in the Waardenburg gene region.
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
Medical genetics: advances in brief: Association of facial hemangiomas with the Dandy-Walker and other posterior fossa malformations
Cystic fibrosis and deafness.
Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?
Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.
Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.
Medical genetics: advances in brief: Medical genetics: advances in brief
Genetics and Neurology
An Atlas of Clinical Syndromes: A Visual Aid to Diagnosis
Reproductive Risks and Prenatal Diagnosis
Molecular characterisation of beta thalassaemia heterozygotes in Brazil.
HLA 1991, Proceedings of the XI International Histocompatibility Workshop and Conference
Genetic heterogeneity of Usher syndrome type II.
DiGeorge syndrome: part of CATCH 22.
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3.
The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.
Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases.
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
On the genetics of mandibular prognathism: analysis of large European noble families.					✓				European noble families
Mutation analysis in Turkish phenylketonuria patients.
Brachymorphism-onychodysplasia-dysphalangism syndrome.
Otopalatodigital syndrome type II.
Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.
Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.
Neurofibromatosis: Phenotype, Natural History and Pathogenesis
Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome.
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
Deletion 9p and sex reversal.
Congenital nystagmus cosegregating with a balanced 7;15 translocation.
'Inside-out', back-to-front: a model for clinical population genetic screening.
Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness.
Medical genetics: advances in brief: A novel meosin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumour suppressor
Medical genetics: advances in brief: Medical genetics: advances in brief
Association versus linkage studies in psychosis genetics.
Genetic transmission of Alzheimer's disease among families in a Dutch population based study.
A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.