Journal of Medical Genetics - 1998

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

Caucasian

White

European

Other

Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
Medical genetics: advances in brief: Frataxin gene of Friedreich's ataxia is targeted to mitochondria
Fibroblast silver loading for the diagnosis of Menkes disease.
Discordant phenotypes and 45,X/46,X,idic(Y).
Classical lissencephaly syndromes: does the face reflect the brain?
Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?
Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.
Familial occurrence of congenital incomplete prepyloric mucosal diaphragm.
Medical genetics: advances in brief: Phenotypic diversity in siblings with partial androgen insensitivity syndrome
Medical genetics: advances in brief: Factor V Leiden mutation: an unrecognised cause of hemiplegic cerebral palsy, neonatal stroke and placental thrombosis
How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and
Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation.
Medical genetics: advances in brief: Mutations in GLUT2, the gene for the liver type glucose transporter, in patients with Fanconi-Bickel syndrome
Medical genetics: advances in brief: Presence of fetal DNA in maternal plasma and serum
Medical genetics: advances in brief: Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
Reply
Hereditary Kidney Diseases
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families.
Correction
Mutation databases on the Web.
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian population.
The Yeast Two-Hybrid System
Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.
Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?
Emery's Elements of Medical Genetics
Cancer genetics and cytogenetics
Differentiation and development
A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.
A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
Costello syndrome in two Brazilian children.
Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia).
Variants of alpha 1-proteinase inhibitor in black and white South African patients with focal glomerulosclerosis and minimal change nephrotic syndrome.			✓
Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
Kyphomelic dysplasia in two sib fetuses.
Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?
Protein Targeting
A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families.
Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.
Seminoma in a postmenopausal woman with a Y;15 translocation in peripheral blood lymphocytes and a t(Y;15)/45,X Turner mosaic pattern in skin fibroblasts.
Triophthalmia and facial clefting: a case report.
Germline PTEN mutations in Cowden syndrome-like families.
Pitfalls in the diagnosis of mtDNA mutations.
Severe primary pulmonary hypoplasia ("acinar dysplasia") in sibs: a genetically determined mesodermal defect?
Coexistence of Gaucher disease type 1 and Joubert syndrome.
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?
MRI findings in a patient with partial monosomy 10p.
Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-Tooth type 1A neuropathy.
Medical genetics: advances in brief: Occurrence of myeloproliferative disorder in patients with Noonan syndrome
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis.
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.
Costello syndrome.
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
Medical genetics: advances in brief: Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing
Medical genetics: advances in brief: Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
Medical genetics: advances in brief: Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations
Medical genetics: advances in brief: Positional cloning of the gene associated with X-linked juvenile retinoschisis
UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.
Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome.
Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.
Clinical features of chromosome 22q11 deletion.
New overgrowth syndrome and FGFR3 dosage effect.
Reply
Human Cytogenetic Cancer Markers
Molecular study of the rhodopsin gene in retinitis pigmentosa patients in the Basque Country.
The North Cumbria Community Genetics Project.
"Code of practice and guidance on human genetic testing services supplied direct to the public". Advisory Committee on Genetic Testing.
A survey of phenotypic features in juvenile polyposis.
Meckel syndrome.
The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.
Laws regarding insurance companies.
Holoprosencephaly in deletions of proximal chromosome 14q.
Another holoprosencephaly locus at 7q21.2?
Bony orbital morphology in neurofibromatosis type 1 (NF1).
Congenital malformations: an inquiry into classification and nomenclature.
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Not para-, not peri-, but centric inversion of chromosome 12.
Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.
Mitochondrial DNA mutations and pathogenicity.
Genetic Disorders and Pregnancy Outcome
Oligonucleotides as Therapeutic Agents
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
Spoken Presentations
Clinical genetics
Mutation analysis
An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews.							✓		Ashkenazi Jews
Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?
Molecular evidence that fragile X syndrome occurs in the South African black population.
Hypoplastic left heart in cerebrocostomandibular syndrome.
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal en
Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.
Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
The butyrylcholinesterase K variant and susceptibility to Alzheimer's disease.
Costello syndrome: two cases with embryonal rhabdomyosarcoma.
The Science behind Jeans for Genes Day: Teaching Packs for Primary (Key Stage 2) and Secondary (Key Stage 4) Schools
Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas.
P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.
RP11 is the second most common locus for dominant retinitis pigmentosa.
Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.
Medical genetics: advances in brief: High incidence of Down's syndrome in infants of diabetic mothers
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.
Contracting for clinical genetic services: the Welsh model.
Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation.
Craniosynostosis and chromosome 22q11 deletion.
Reply to letters regarding clinical features of chromosome 22q11 deletion
Medical genetics: advances in brief: Is lifespan determined in utero?
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Oto-onycho-peroneal syndrome: confirmation of a syndrome.
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.
Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes i
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
Studies of FRAXA and FRAXE in women with premature ovarian failure.
Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.
Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?
Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain.
"Cataplexy" in Coffin-Lowry syndrome.
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.
Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.
Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.
Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.
Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
Medical genetics: advances in brief: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counselling
Medical genetics: advances in brief: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
General cytogenetics
An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
Atelosteogenesis type 2.
Medical genetics: advances in brief: Relationship between lifetime ovulatory cycles and over-expression of mutant P53 in epithelial ovarian cancer
Cystic fibrosis and mucins.
Neurofibromatosis Type 1 in Childhood
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.
Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.
Two 22q telomere deletions serendipitously detected by FISH.
Lancelot Hogben Scientific Humanist. An Unauthorised Autobiography
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
Knowledge, views, and experience of 25 women with myotonic dystrophy.
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.
Segregation distortion in myotonic dystrophy.
Kenny-Caffey syndrome without the CATCH 22 deletion.
Genetic implications of double primary cancers of the colorectum and endometrium.
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
The mechanisms involved in formation of deletions and duplications of 15q11-q13.
Recurrence risks in mental retardation.
Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation.
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis?
A simple and efficient method for microdissection and microFISH.
Myotonia congenita in northern Finland: an epidemiological and genetic study.
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.
The dystonias.
Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.
Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.
Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.
A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.
Prediction of liability to orofacial clefting using genetic and craniofacial data from parents.
Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.
Recommendations for education and training of genetic nurses and counsellors in the United Kingdom.
Exclusion of the familial Mediterranean fever locus as a susceptibility region for autosomal dominant familial Hibernian fever.
Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications.
Genome Structure and Function: From Chromosome Characterization to Gene Technology
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
A polymorphism of the CC16 gene is associated with an increased risk of asthma.
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
Maternal age specific risk rate estimates for Down syndrome among live births in whites and other races from Ohio and metropolitan Atlanta, 1970-1989.							✓		other races
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
Molecular screening for proximal 15q abnormalities in a mentally retarded population.
Choroid plexus cysts and aneuploidy.
No evidence for heterogeneity in oculopharyngeal muscular dystrophy.
Chondrodysplasia punctata and maternal systemic lupus erythematosus.
The Book of Man: The Human Genome Project and the Quest to Discover Our Genetic Heritage
Genetics. A Molecular Approach
Medical complications of achondroplasia: a multicentre patient review.
Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.
Predicting adaptation to presymptomatic DNA testing for late onset disorders: who will experience distress? Rotterdam Leiden Genetics Workgroup.
A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21.
Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.
PTEN and prostate cancer.
Neuromuscular Disorders: Clinical and Molecular Genetics
Biochemical genetics
Linkage mapping/marker polymorphisms
Medical genetics: advances in brief
Familial gonadal tumours.
Cystic fibrosis in a Puerto Rican female homozygous for the R1066C mutation.
Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy.
Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.
Another dystonia.
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.
Medical genetics: advances in brief: Linkage-disequilibrium mapping of autistic disorder with 15q11-13 markers
Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome.
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
A Dictionary of Genetics
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.
A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.
Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation.
Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.
Cyclopia and sirenomelia in a liveborn infant.
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.
Hereditary fructose intolerance.
Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
Medical genetics: advances in brief
Medical genetics: advances in brief: Tetrahydrobiopterin - Basic Biochemistry and Role in Human Disease.
A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland.
Medical genetics: advances in brief: Fragile X premutations are not a cause of early menopause
Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3.
Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
The fragile X syndrome.
Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.
Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.
Gene Therapy for Neurological Disorders and Brain Tumours
Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of So
Distortion of maternal-fetal angiotensin II type 1 receptor allele transmission in pre-eclampsia.
Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.
Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.
Medical genetics: advances in brief: Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics
Further refinement of the Usher 2A locus at 1q41.
Medical genetics: advances in brief: Molecular biology and genetics of allergy and asthma
Frequency of inherited deletions of 22q11.
Programme
Molecular cytogenetics
Laboratory techniques in molecular genetics
Chinese geneticists approach ethics.
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.
High frequency of the haemochromatosis C282Y mutation in Hungary could argue against a Celtic origin of the mutation.							✓		Celtic
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partia
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.
Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes.
Prenatal diagnosis by FISH of a 22q11 deletion in two families.
Medical genetics: advances in brief: Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation
Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis.
Counselling issues in familial hypertrophic cardiomyopathy.
Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.
Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Correcting the Blueprint of Life. An Historical Account of the Discovery of DNA Repair Mechanisms
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.
Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.
Medical genetics: advances in brief: Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling
Robinow syndrome.
Linkage analysis in Usher syndrome type I (USH1) families from Spain.
Autosomal dominant juvenile recurrent parotitis.
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.									Greek origin
Medical genetics: advances in brief
Culture, Kinship and Genes
Medical genetics in the UK and the National Health Service.
Medical genetics: advances in brief: Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy
Medical genetics: advances in brief: An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
Extensive form of aplasia cutis congenita: a new syndrome?
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA),
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.
Medical genetics: advances in brief: Growing interest in overgrowth
Medical genetics: advances in brief: Diagnosing Friedreich's ataxia
Autoclaving Guthrie cards does not prevent their use in PCR reactions!
Men in breast cancer families: a preliminary qualitative study of awareness and experience.
Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.
The annual incidence of DiGeorge/velocardiofacial syndrome.
Instability in the normal CTG repeat range at the myotonic dystrophy locus.
Gene Transfer in the Cardiovascular System: Experimental Approaches and Therapeutic Implications
Counselling/education/screening
Epidemiology/population genetics
Gene structure and regulation
Physical mapping
Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.
Chromosome specific comparative genome hybridisation for determining the origin of intrachromosomal duplications.
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
Intrachromosomal triplication of distal 7p.
Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?
Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.
Medical genetics: advances in brief: Novel molecular variants of the Na-K-2C1 cotransporter gene are responsible for antenatal Bartter syndrome
Medical genetics: advances in brief: Role of the region 3' to Xist exon 6 in the counting process of X-chromosome inactivation
Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
Tricuspid atresia in sibs.
Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.
Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.
Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.
Medical genetics: advances in brief: Screening of newborn babies for familial ureteric reflux
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.
Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.
A mother with VCFS and unilateral dysplastic kidney and her fetus with multicystic dysplastic kidneys: additional evidence to support the association of renal malformations and VCFS.
Genotype-phenotype correlation in L1 associated diseases.
49,XXXXY: a distinct phenotype. Three new cases and review.
A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
Family history of breast cancer: what do women understand and recall about their genetic risk?
Baller-Gerold syndrome associated with congenital portal venous malformation.
Prenatal genetics/diagnosis and cytogenetics