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Journal of Medical Genetics - 1994

322 articles | Last updated: 2025-12-03 14:12:57
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Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?
Fibrodysplasia ossificans progressiva.
The Molecular and Genetic Basis of Neurological Disease
Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.
Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis syndrome.
Molecular Genetics of Nervous System Tumours
The Genetic Basis of Common Diseases
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.
Human Malformations and Related Anomalies
Fundamentals of Genetic Epidemiology
Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
Meiotic drive at the myotonic dystrophy locus.
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.
Medical genetics: advances in brief: Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
A PCR based method to determine the Kalow allele of the cholinesterase gene: the E1k allele frequency and its significance in the normal population.
Genetic studies of thymic carcinoids in multiple endocrine neoplasia type 1.
Dermal eccrine cylindromatosis.
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
The Chromosome
A point mutation in the human serum albumin gene results in familial dysalbuminaemic hyperthyroxinaemia.
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
Molecular evidence for non-penetrance in Best's disease.
Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case.
Drug induced VATER association: is dibenzepin a possible cause?
Multiple origins of X chromosome tetrasomy.
The Molecular and Genetic Basis of Neurological Disease
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).
Medical genetics: advances in brief: Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy
Medical genetics: advances in brief: Toluene embryopathy: delineation of the phenotype and comparison with fetal alcohol syndrome
A gene map of congenital malformations.
Causes of Diabetes: Genetic and Environmental Factors
Medical genetics: advances in brief: A worldwide study of the Huntington's disease mutation
Nuffield Council on Bioethics: Genetic Screening Ethical Issues
"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
Balanced reciprocal whole arm translocation t(3;9): analysis by fluorescence in situ hybridisation.
Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.
Exclusion of two candidate loci for autosomal recessive nemaline myopathy.
Analysis of human growth hormone gene 5' sequences in isolated growth hormone deficiency patients.
Medical genetics: advances in brief: The fish odour syndrome: biochemical, familial, and clinical aspects
Cutis laxa: a feature of Costello syndrome.
PCR Protocols--Current Methods and Applications
X inactivation patterns in female monozygotic twins and their families.
The genetic testing of children. Working Party of the Clinical Genetics Society (UK)
Medical genetics: advances in brief: Acquisition of Pseudomonas cepacia at summer camps for cystic fibrosis
Huntington's disease in two unrelated Arab kindreds and in an Afghani family resident in Saudi Arabia.
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.
Deletions in the 5' region of dystrophin and resulting phenotypes.
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.
APC mutation associated with late onset of familial adenomatous polyposis.
High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient.
Medical genetics: advances in brief: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics
Automated analysis of multiplex microsatellites.
Genetic epidemiology of early onset breast cancer.
Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.
Syndactyly, ectodermal dysplasia, and cleft lip/palate.
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
Hydrocephalus in an infant with trisomy 22.
Partial trisomy 3q causing mild Cornelia de Lange phenotype.
Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy loss.
Medical genetics: advances in brief: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.
Genetic study of indirect inguinal hernia.
Autosomal recessive disorders among Arabs: an overview from Kuwait.
Apparent SMA I unlinked to 5q.
Parental origin of the X chromosome in a patient with a Robertsonian translocation and Turner's syndrome.
Homozygosity at the dopamine D3 receptor locus is not associated with schizophrenia.
Advances in Human Genetics
Human Gene Mutation
Heredity and Your Family's Health
Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
Medical genetics: advances in brief: Autosomal dominant transmission of the Pallister-Hall syndrome
Genome Maps and Neurological Disorders
Saethre-Chotzen syndrome.
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). ✓ German-American
Genetics in art.
The French Wilms' tumour study: no clear evidence for cancer prone families.
Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
Medical genetics: advances in brief: Mitochondrial DNA rearrangements with onset as chronic diarrhoea with villous atrophy
Medical genetics: advances in brief: Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
The newly recognised skeletogenital syndrome.
International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.
The Molecualr Genetics of Haemostasis and its Inherited Disorders
A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Anticipation in Swedish families with bipolar affective disorder.
Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia.
Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
Mulvihill-Smith syndrome: case report and review.
French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.
Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder.
Genetic heterogeneity of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in families with familial adenomatous polyposis.
Medical genetics: advances in brief: Wolfram syndrome: a mitochondrial-mediated disorder?
Syndrome of the month
Down-Turner syndrome: case report and review.
The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis.
Neurofibromatosis type 1 in Israel: survey of young adults.
Culture, kinship and genes
Medical genetics: advances in brief
Genetic Studies in Affective Disorder: Overview of Basic Methods, Current Directions and Critical Research Issues
Human Cytogenetics Database
Understanding Genetics: A Molecular Approach
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.
Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin. ✓ Spanish male; Mediterranean origin
Medical genetics: advances in brief: Molecular analysis and clinical correlations of the Huntington's disease mutation
Thalassaemia in Azerbaijan.
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.
Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.
Neurogenic bladder in Hunter's syndrome.
Book reviews
A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. ✓ Portuguese
Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification.
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.
Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.
Interpreting the evidence for an association between the retinoic acid receptor locus and non-syndromic cleft lip with or without cleft palate.
The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families.
The Denys-Drash syndrome.
An inherited dystrophin deletion without muscle weakness.
Paternal transmission of congenital myotonic dystrophy.
Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.
Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels.
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
Medical genetics: advances in brief: Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children
Medical genetics: advances in brief: Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm
The Neurofibromatoses: A Pathogenetic and Clinical Review
Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.
Parental origin of transcription from the human GNAS1 gene.
Muir-Torre syndrome: a variant of the cancer family syndrome.
Partial trisomy for 2q in a patient with dir dup(2) (q33.1q35).
Medical genetics: advances in brief: SRVX, a sex reversing locus in Xp21.2->p22.11
Medical genetics: advances in brief: Huntington disease without CAG expansion: phenocopies or errors in assignment?
Medical genetics: advances in brief: Neurofibromatosis type 1: the cognitive phenotype
Medical genetics: advances in brief
Medical genetics: advances in brief: Analysis of limb reduction defects in babies exposed to chorionic villus sampling
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.
Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.
The genetic testing of children.
Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
Osteocraniostenosis.
Chimaerism shown by cytogenetics and DNA polymorphism analysis.
Possible role of imprinting in the Turner phenotype.
Trinucleotide repeat length and progression of illness in Huntington's disease.
Pyruvate dehydrogenase deficiency.
Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
Medical genetics: advances in brief: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
No association between dopamine D4 receptor polymorphism and manic depressive illness.
3-M syndrome and intracerebral aneurysms.
Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
Anophthalmia with cleft palate and micrognathia: a new syndrome?
Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390)
Diagnostic Criteria for Neuromuscular Disorders
Facial clefts in the west of Scotland in the period 1980-1984: epidemiology and genetic diagnoses.
Origin of a regressed myotonic dystrophy allele.
Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).
Association of 1078 del T cystic fibrosis mutation with severe disease.
The molecular basis of genetic dominance.
Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.
Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.
X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
Medical genetics: advances in brief: Editorial: our educational challenge
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
Isolation and characterisation of a panel of cosmids which allows unequivocal identification of chromosome deletions involving the RB1 gene using fluorescence in situ hybridisation.
A new missense mutation of fibrillin in a patient with Marfan syndrome.
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.
Medical genetics: advances in brief: Application of carrier testing to genetic counselling for X-linked agammaglobulinemla
The impact of population based screening for carriers of cystic fibrosis.
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation.
Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).
Kyphomelic dysplasia.
Segregation analysis of Alagille syndrome.
Costello syndrome: natural history and differential diagnosis of cutis laxa.
A further patient with Pai syndrome with autosomal dominant inheritance?
Medical genetics: advances in brief: Risks of cancer in BRCA1-mutation carriers
A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.
"Compensatory" uniparental disomy of chromosome 21 in two cases.
Mutation analysis in 600 French cystic fibrosis patients.
Beckwith-Wiedemann syndrome.
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.
A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA).
Medical genetics: advances in brief: Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria
An extra band within the human 9qh+ region that behaves like the surrounding constitutive heterochromatin.
Congenital contractural arachnodactyly (Beals syndrome).
X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies.
Further family with autosomal dominant patent ductus arteriosus.
Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.
A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.
FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigs.
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
An interstitial deletion of chromosome 7(q35).
Sotos syndrome: a study of the diagnostic criteria and natural history.
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome.
De novo deletion (2) (p11.2p13): clinical, cytogenetic, and immunological data.
Medical genetics: advances in brief: Diagnosis of human genetic disease using recombinant DNA. Fourth edition
Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.
Low segregation ratios in autosomal recessive disorders.
Prevention of Mediterranean anaemia in Latium, Italy, today.
Correction
Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree. ✓ Italian
Albright's hereditary osteodystrophy.
Intrachromosomal triplication of 15q11-q13.
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
Medical genetics: advances in brief: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1
Medical genetics: advances in brief: A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases
Gene Targeting: A Practical Approach
Molecular Genetic Medicine
Genetic study of congenital heart defects in Northern Ireland (1974-1978).
Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families.
The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome.
Chromosomes: A Synthesis
Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
Progressive hemifacial atrophy with agenesis of the head of the caudate nucleus.
Genetics and Alcoholism
Recurrence of Pallister-Hall syndrome in two sibs.
Acute myeloid leukaemia in a patient with Seckel syndrome.
Abstracts of the British Medical Genetics Conference, Leeds on 22 to 24 September 1993
Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS).
Familial pericentric inversion inv(8)(p23q11).
Value of chromosome painting in determining the chromosomal outcome in offspring of a 12;16 translocation carrier.
Epidermal mosaicism and Blaschko's lines.
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.
Essential Medical Genetics
The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993).
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.
Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21.
Workshop on inherited disorders and their genes in different European populations, Obernai, Strasbourg, France, 26-30 November 1993 ✓ European populations
Medical genetics: advances in brief: Factor VIII gene rearangements in patients with severe haemophilla
Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination.
Deletions of the entire APC gene are associated with sessile colonic adenomas.
Preconception and Preimplantation Diagnosis of Human Genetic Disease
Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene.
Phenotypic analysis of triphalangeal thumb and associated hand malformations.
Genital tract function in men with Noonan syndrome.
Genetics of Colorectal Cancer for Clinical Practice
First trimester prenatal diagnosis of Menkes disease by DNA analysis.
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. ✓ Italian kindred from Siculiana
Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.
Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).
Medical genetics: advances in brief: Localization of the achondroplasia gene to the distal 2-5 Mb of human chromosome 4p
Genetic epidemiology of single gene defects in Chile.
Familial half cryptic translocation t(9;17).
Autosomal dominant simple microphthalmos.
Cleft hand/foot: clinical and developmental aspects.
Familial Pallister-Hall syndrome.
Ascertainment and severity of Marfan syndrome in a Scottish population.
The spectrum of beta thalassaemia mutations in the UAE national population.
Medical genetics: advances in brief
Del(18p) syndrome with a single central maxillary incisor.
Phenotypic variation of tuberous sclerosis in a single extended kindred.
Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.
Counselling following diagnosis of a fetal abnormality: the differing approaches of obstetricians, clinical geneticists, and genetic nurses.
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
The impact of genetic counselling on females in fragile X families.
Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.
Assessment of Yqh translocations.
Addendum
Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register.
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.
Medical genetics: advances in brief: Adenovirus-mediated gene transfer transiently corrects the chloride transport defect in nasal epithelia of patients with cystic fibrosis
Medical genetics: advances in brief: Normal phenotype with paternal uniparental isodisomy for chromosome 21
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
Confirmation of association between the e4 allele of apolipoprotein E and Alzheimer's disease.
Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe.
Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.
Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome.
Medical genetics: advances in brief: Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor-suppressor gene WT1
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
Genetic heterogeneity in Rieger eye malformation.
Medical genetics: advances in brief
A case of paternally inherited congenital myotonic dystrophy.
Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.
Meckel syndrome: what are the minimum diagnostic criteria?
Four cases of bladder exstrophy in two families.
Duchenne Muscular Dystrophy
Lethal congenital contracture syndrome: further delineation and genetic aspects.
Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
Medical genetics: advances in brief: C. elegans cell survival gene ced-9 encodes a functional homologue of the mammalian proto-oncogene bcl-2
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
Neoplastic diseases in families of breast cancer patients.
Medical genetics: advances in brief: Progression of aortic dilatation and the benefit of long-term  -adrenergic blockade in Marfan's syndrome
Expanded CAG trinucleotide repeat of Huntington's disease gene in a patient with schizophrenia and normal striatal histology.
Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.
Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.
Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.
Diaphragmatic herniae and translocations involving 8q22 in two patients.
The Pallister-Hall syndrome.
Skeletal malformations and polycystic kidney disease.
Mouse homologues of human hereditary disease.
Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. ✓ Negroids
Medical genetics: advances in brief: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
Cephalometric analysis of Rapp-Hodgkin syndrome.
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis.
Forensic medicine, PCR, and Bayesian approach.
Genes V
Molecular Genetics of Sex Determination
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
Two fetuses with Fryns syndrome without diaphragmatic defects.
Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.
Mosaicism with a normal cell line and an autosomal structural rearrangement.
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.
Medical genetics: advances in brief: Replication structure of the human  -globin gene domain
Medical genetics: advances in brief: Diagnosis of human genetic disease using recombinant DNA; fourth edition
Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?
Medical genetics: advances in brief: A healthy male with compound and double heterozygosities for  F508, F508C and M470V in exon 10 of the cystic fibrosis gene
New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.
Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
Velocardiofacial syndrome and DiGeorge sequence.
If I am to be Remembered. The Life and Work of Julian Huxley with Selected Correspondence
Indexing Journal of Medical Genetics
Inv dup(15) supernumerary marker chromosomes.
The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.