Journal of Medical Genetics - 1995

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

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Marfan syndrome: fibrillin expression and microfibrillar abnormalities in a family with predominant ocular defects.
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.
Cartilage-hair hypoplasia.
Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.
Medical genetics: advances in brief: Mutation analysis in patients with possible but apparently sporadic Huntington's disease
Comment: Decruyenaere et al., "Adolescents' opinions about genetic risk information, prenatal diagnosis, and termination of pregnancy.
Medical genetics: advances in brief: Specification of the neurobehavioural phenotype in males with fragile X syndrome
Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).
Medical genetics: advances in brief: Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients
Medical genetics: advances in brief: Gene transfer to primary chronic granulomatous disease monocytes
Medical genetics: advances in brief: FRAXE expansion is not a common etiological factor among developmentally delayed males
Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
Medical genetics: advances in brief: Proceed with care: direct predictive testing for Huntington disease
Medical genetics: advances in brief
Medical genetics: advances in brief
Genome Rearrangement and Stability
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.
Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.
Twins as a Tool of Behavioral Genetics
Familial pancreatic adenocarcinoma: association with diabetes and early molecular diagnosis.
Phenotypic variability in patients with generalised resistance to thyroid hormone.
Medical genetics: advances in brief: Congenital bilateral absence of vas deferens in the absence of cystic fibrosis
A new PAX6 mutation in familial aniridia.
The epidemiology of Huntington's disease in Northern Ireland.
Medical genetics: advances in brief
Medical genetics: advances in brief: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
Identification of Transcribed Sequences
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.
Medical genetics: advances in brief: Health supervision for children with achondroplasia
Assessing Genetic Risks: Implications for Health and Social Policy
Genetics in Neurology
Hereditary Hearing Loss and its Syndromes
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.
Medical genetics: advances in brief: A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B
Adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination
Medical genetics: advances in brief
From Genotype to Phenotype
Haldane's Daedalus Revisited
Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments.
Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.
Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.
Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote.
Animals with Novel Genes
Psychological aspects of von Recklinghausen neurofibromatosis (NF1)
The Irish cystic fibrosis database.
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Medical genetics: advances in brief: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
Medical genetics: advances in brief: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
Friendly Fire: Explaining Autoimmune Disease
Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.
Medical genetics: advances in brief: Ultrasound measurement of placental thickness to detect pregnancies affected by homozygous -thalassaemia-1
Molecular Medicine. An Introductory Text for Students
Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993.
A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.
Further evidence for an intermittent pattern of neural tube closure in humans.
A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.
Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.
Clinical Genetics Handbook
The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions
De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
International workshop on molecular genetics of haemochromatosis, held at Villa Feltrinelli, Gargnano (Bs), Italy, 25 September 1994.
Medical genetics: advances in brief
Huntington's disease in Saudi Arabia.
Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family.
Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study.
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.
Oguchi disease: suggestion of linkage to markers on chromosome 2q.
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populations.			✓
Nuclear and mitochondrial genetics in Parkinson's disease.
GIG response to the UK Clinical Genetics Society report "The genetic testing of children".
HLA-B27 and spondyloarthropathy: value for early diagnosis?
Emotional and functional impact of DNA testing on patients with symptoms of Huntington's disease.
Ascertainment of myotonic dystrophy through cataract by selective screening.
Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.
Chromosomal localisation of a Y specific growth gene(s).
Detection of Y mosaicism in patients with Turner's syndrome.
Anthropometry: the Individual and the Population
Chromosome Techniques-A Manual
Molecular Genetics of Inherited Eye Disorders
Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.							✓		the Japanese
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period.
Attitudes towards Down's syndrome: follow up of a cohort of 280 cases.
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
Congenital heart disease in spondylothoracic dysostosis: two familial cases.
Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.
Medical genetics: advances in brief: Mutation in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes
Prototype sequence clues within the Fanconi anaemia group C gene.
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.
Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.
Medical genetics: advances in brief: KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.
Medical genetics: advances in brief
Exclusion of retinoic acid receptor and a cartilage matrix protein in non-syndromic CL(P) families.
Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)
Medical genetics: advances in brief: Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
Reply
Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme (NHSBSP).
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy.
Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred.
Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.							✓		Japanese
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes.
Familial cafe au lait spots: a variant of neurofibromatosis type 1.
British Medical Genetics Conference. York, 12-14 September 1994. Abstracts.
Medical genetics: advances in brief: A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome
Medical Genetics: Principles and Practice
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.
Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition.
Absence of linkage between familial neural tube defects and PAX3 gene.
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval.
Thalassaemia in Azerbaijan.
ABC of Clinical Genetics
Leukaemia and Sellafield: is there a heritable link?
A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
MURCS in a male?
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects.							✓		Japanese subjects
Bilateral split hand/foot malformation and inv(7)(p22q21.3).
Medical genetics: advances in brief: Bone marrow transplantation for autosomal recessive osteopetrosis
Mild cystic fibrosis phenotype in patients with the 3272-26A > G mutation.
Cystic Fibrosis: Current Topics
Biographical note: Professor Martin Bobrow
DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease.
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.
Good growth response to growth hormone treatment in the ring chromosome 15 syndrome.
The genetic testing of children.
UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13.
In Situ Hybridization Protocols
Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum
Congenital anomalies and genetic disorders in families of children with central nervous system tumours.
Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.
Filippi syndrome: a new case with skeletal abnormalities.
Medical genetics: advances in brief: A multinstitutional survey of Wiskott-Aldrich syndrome
Medical genetics: advances in brief: Comparison of women who do and do not have amniocentesis or chorionic villus sampling
Pallister-Hall and McKusick-Kaufmann syndromes.
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)pat.
Medical genetics: advances in brief: Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity
Human Population Genetics: A Centennial Tribute to J B S Haldane
FMR1 triplet arrays: paying the price for perfection
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
Current issues of personnel and laboratory practices in genetic testing
An unusual pedigree with microcornea-cataract syndrome
Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
Duplication 2 (q11.2-q21): a previously unreported abnormality
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease									Portuguese descent
Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
A familial Xp+ chromosome, dup (Xq26.3-->qter).
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia.
No evidence of genetic heterogeneity in dominant optic atrophy.
Cluster headache is an autosomal dominantly inherited disorder in some families: a complex segregation analysis.
Further delineation of the partial proximal trisomy 10q syndrome.
A large multisite cancer family is linked to BRCA2.
The Molecular Genetics of Cancer
Modification of standard proteinase K/phenol method for DNA isolation to improve yield and purity from frozen blood.
Menkes disease.
Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.
Genetics and Medicine in the United States 1800 to 1922
Guide to Techniques in Mouse Development
Alagille syndrome: family studies.
Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
Medical genetics: advances in brief: Background statement. Genetic testing and insurance
Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.
Redrafted Chinese law remains eugenic.
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.
Diagnostic issues in a family with late onset type 2 neurofibromatosis.
Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma.
H714Q mutation in Wilson disease is associated with late, neurological presentation.
A family with autosomal dominant polycystic kidney disease linked to 4q21-23.
FISH analysis on spontaneously arising micronuclei in the ICF syndrome.
The impact of newborn screening on cystic fibrosis testing in Victoria, Australia.
Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).
A fetus with an X;1 balanced reciprocal translocation and eye disease.
Cerebellar atrophy in a patient with velocardiofacial syndrome.
Muscular Dystrophy--The Facts
Neuropsychological characteristics of Huntington's disease carriers: a double blind study.
Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.
Apolipoprotein E epsilon 4 allele is a risk factor for familial and sporadic presenile Alzheimer's disease in both homozygote and heterozygote carriers.
Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
Medical genetics: advances in brief: Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.
Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction.
Difference in constitutive heterochromatin behaviour between human amniocytes and lymphocytes detected by a sequential in situ exonuclease III digestion-random primer extension procedure.
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.
Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.							✓		Dutch
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
Medical genetics: advances in brief: Rapid direct diagnosis of deletion carriers of Duchenne and Becker muscular dystrophies
Medical genetics: advances in brief: The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
Medical genetics: advances in brief: Myophosphorylase deficiency: an unusually severe form with myoglobinuria
A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
Further report of a patient with humeroradioulnar synostosis and hydronephrosis.
Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Clinical and Genetic Aspects of the X Linked Hydrocephalus/MASA Spectrum
Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.
Gonadal mosaicism for incontinentia pigmenti in a healthy male.
Pfeiffer type cardiocranial syndrome: a third case report.
Medical genetics: advances in brief: Multiple sites of anterior neural tube closure in humans: evidence from anterior neural tube defects (anencephaly)
Medical genetics: advances in brief: A cystic fibrosis mutation associated with mild lung disease
Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.
Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.
Leukaemia and Sellafield: is there a heritable link?
Severe intrauterine growth retardation with increased mitomycin C sensitivity, or Nijmegen breakage syndrome?
Secrets in the Genes
Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?
Medical genetics: advances in brief: Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters
Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.
The Inherited Metabolic Diseases
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.
Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.
Haplotype analysis in autosomal dominant polycystic kidney disease.
From Genetics to Gene Therapy
Direct marketing of cystic fibrosis carrier screening: commercial push or population need?
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
Stepwise or couple antenatal carrier screening for cystic fibrosis?: women's preferences and willingness to pay.
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.
Congenital knee dislocation in a 49,XXXXY boy.
Functional Neural Transplantation
Inherited Disorders of the Thyroid System
Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.
Medical genetics: advances in brief: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
Medical genetics: advances in brief: Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome
A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?
Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis.
Principles of Health Care Ethics
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
Confirmation of genetic heterogeneity in familial psoriasis.
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
High incidence of delta I507 mutation of the CFTR gene in a limited area of the north west of France.
Velocardiofacial syndrome: learning difficulties and intervention.
Consanguinity among the Saudi Arabian population.
Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.
Textbook of Fetal Physiology
Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease.
Research in canine and human genetic disease.
Medical genetics: advances in brief: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling
Medical genetics: advances in brief: Rapid antibody test for fragile X syndrome
Hereditary multi-infarct dementia unlinked to chromosome 19q12 in a large Scottish pedigree: evidence of probable locus heterogeneity.
Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites.
An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation
Public attitudes towards the selection of desirable characteristics in children
Treacher Collins syndrome.
Medical genetics: advances in brief: Inactivation of the type II TGF- receptor in colon cancer cells with microsatellite instability
Reply to the commentary on Decruyenaere et al "adolescents' opinions about genetic risk information, prenatal diagnosis, and pregnancy termination".
Response to GIG's response to the UK Clinical Genetics Society report "the genetic testing of children".
Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.
The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
Medical genetics: advances in brief
Medical genetics: advances in brief: A single ataxia telangiectasia gene with a product similar to P1-3 kinase
Medical genetics: advances in brief
Genetic Engineering. Principles and Methods
Genetics of Mental Disorders. Part I. Theoretical Aspects
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.
Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.
Medical genetics: advances in brief
Reply
Prenatal Diagnosis: The Human Side
Familial Adenomatous Polyposis and Other Polyposis Syndromes
Recurrence risk for germinal mosaics revisited.
Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.
Cowden syndrome.
FRAXE and mental retardation.
Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
Familial schizencephaly: further delineation of a rare disorder.
Genetic Factors in Drug Therapy: Clinical and Molecular Pharmacogenetics
Association study with two markers of a human homeogene in infantile autism.
Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.							✓		Dutch
Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.
Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
Medical genetics: advances in brief: Parent-of-origin effects in multiple endocrine neoplasia type 2B
Different muscle specific promoter characteristics in two sibs with Duchenne muscular dystrophy.
Grebe syndrome: a very severely affected case.
A family study describing second cousins with cystic fibrosis and no common ancestor who is a carrier.
Rare variants of chromosome 9 with extra G positive band within the qh region are not alike.
Molecular Genetic Medicine
A clinical and genetic study of campomelic dysplasia.
Epidemiology and genetics of microtia-anotia: a registry based study on over one million births.
The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs.
Inheritance of CMT1A duplication from a mosaic father.
Possible genetic heterogeneity in hypochondroplasia.
Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss.
Currnet Protocols in Human Genetics
Report on MDA workshop on myotonic dystrophy, 10 October 1994, Montreal, Quebec, Canada.
Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.
Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.
Direct marketing of cystic fibrosis carrier screening: commercial push or population need?
Cell Biology: a Laboratory Handbook
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation
Bilateral cataract and high serum ferritin: a new dominant genetic disorder?
A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation
Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
Evaluation of candidate genes for familial brachydactyly.
Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.
MURCS in a male.
X inactivation of the FMR1 fragile X mental retardation gene.
Ophthalmic genetics: a genealogical guide to sources in England and Wales.
Partial disomy of Xp and the presence of SRY in a phenotypic female.
Del(3) (p25.3) without phenotypic effect.
Medical genetics: advances in brief: Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region
DNA analysis of Huntington's disease in southern Chinese.
A weak association between TH and DRD2 genes and bipolar affective disorder in a Spanish sample.
Gene Therapeutics. Methods and Applications of Direct Gene Transfer
Genetic testing for cancer predisposition: need and demand.
A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
Perinatal lethal osteogenesis imperfecta.
Editorial postscript: 10 years of change and evolution.
Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
Cognitive performance in UK sample of presymptomatic people carrying the gene for Huntington's disease.
Craniometaphyseal dysplasia (CMD), autosomal dominant form.
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.
Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipo
Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.
Medical genetics: advances in brief: Prenatal genetic counselling for hemoglobinopathy carriers: a comparison of primary providers of prenatal care and professional genetic counselors
Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia.
The association of combined alpha and beta fibrinogen genotype on plasma fibrinogen levels in smokers and non-smokers.
Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.
The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy.
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
Twenty-four cases of the EEC syndrome: clinical presentation and management.
Fetal valproate syndrome.
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.
A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.