Journal of Medical Genetics - 1996

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

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Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.
Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).
Cystic Fibrosis: Current Topics
Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
Medical genetics: advances in brief: Evidence for genetic basis of multiple sclerosis
Variation in the Human Genome
The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.
Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.
First report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.
Look Back to the Future. The Cells of the Body: A History of Somatic Cell Genetics
Transcription Factors
The Effects of Drugs on the Fetus and Nursing Infant
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.
Congenital Limb Deficiencies in Hungary. Genetic and Teratologic Epidemiological Studies
Frequency of myotonic dystrophy gene carriers in cataract patients.
Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.
Large inv dup(15) chromosome in two generations.
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family.
Second cousins with cystic fibrosis and no common ancestor who is a carrier.
Transplantation Immunology
An ovine CFTR variant as a putative cystic fibrosis causing mutation.
Medical genetics: advances in brief: Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis
Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy.
Human Molecular Genetics
A clinical severity grading scale for Marfan syndrome.
Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter.
Prenatal genetics/diagnosis and cytogenetics
Counselling/education/screening
Molecular cytogenetics
Variation of phenotype in patients with glucocorticoid remediable aldosteronism.
X linked hydrocephalus and MASA syndrome.
FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).
Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.
Chromosome fragments with alphoid sequences derived from a pseudoisodicentric Y chromosome.
Familial predisposition to both male and female germ cell tumours?
X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred.
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.									ancestry from Ireland or Great Britain
Indirect inguinal hernia among Bedouins.							✓		Bedouins
Medical genetics: advances in brief: X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene
Pendred syndrome.
Monozygotic twins with 22q11 deletion and discordant phenotypes.
Gene deletions in spinal muscular atrophy.
Hypopigmented skin alterations resembling tuberous sclerosis in normal skin.
Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.
Odontomicronychial ectodermal dysplasia.
Catalog of Teratogenic Agents
The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease
The molecular defect underlying canine fucosidosis.
The dysmorphic human-mouse homology database (DHMHD): an interactive World-Wide Web resource for gene mapping.
Unstable mutation in incontinentia pigmenti?
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.
Different origins of mutations at the Machado-Joseph locus (MJD1)
Gene Cloning and Manipulation
Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure.
Medical genetics: advances in brief: Prognostic implications of fetal echogenic bowel
Report of a critical recombination further narrowing the TSC1 region.
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.
Evidence of a long QT founder gene with varying phenotypic expression in South African families.
Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling.
Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.
Xeroderma pigmentosum--Cockayne syndrome complex: a further case.
FRAXF in a patient with chromosome 8 duplication.
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.
Medical genetics: advances in brief: Partial deficiency of surfactant protein B in an infant with chronic lung disease
Medical genetics: advances in brief: Prenatal screening for cystic fibrosis: 5 years' experience reviewed
Molecular Genetics of Human Inherited Disease
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
Clinical and genetic heterogeneity of hypochondroplasia.
A 3 1/2 year old girl with distal trisomy 19q defined by FISH.
Medical genetics: advances in brief: Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
Color Atlas of Genetics
Spoken Presentations
Cancer genetics and cytogenetics
General cytogenetics
Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.
Developmental Mechanisms of Heart Disease
Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites.
Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
Amelia, dextrocardia, asplenia, and congenital short bowel in deleted ring chromosome 4.
Introduction to Veterinary Genetics
Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.
Achondrogenesis type 1B.
The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the ex
Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
A general method for the detection of large CAG repeat expansions by fluorescent PCR.
Lay understanding of genetics: a test of a hypothesis.
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
Medical genetics: advances in brief: Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
Medical genetics: advances in brief: Fibrosing colonopathy in cystic fibrosis: results of a case-control study
Apolipoprotein E genotype does not affect age at onset in patients with chromosome 14 encoded Alzheimer's disease.
Gene Therapy: A Handbook for Physicians
Dermatology and the New Genetics
Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence based semiautomated DNA analysis.
Medical genetics: advances in brief: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.
Parents' responses to predictive genetic testing in their children: report of a single case study.
Familial cluster of ovarian small cell carcinoma: a new mendelian entity?
The A-Z Reference Book of Syndromes and Inherited Disorders
The Molecular Biology and Pathology of Elastic Tissues
Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.
A new case of fibrochondrogenesis from Spain.
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
Handbook of Prenatal Diagnosis
Atlas of Whole Chromosome Paint Probes. Normal Patterns and Utility for Abnormal Cases
Attitudes to predictive DNA testing in familial adenomatous polyposis.
Pallister-Hall syndrome.
A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.
MURCS association: case report and review.
Medical genetics: advances in brief
YAC Protocols
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL
Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.
Medical genetics: advances in brief: Amyoplasia, the most common type of arthrogryposis: the potential for good outcome
BRCA1 mutations in a selected series of breast/ovarian cancer patients.
Diagnosis of a complex chromosomal rearrangement using fluorescent in situ hybridisation.
Medical genetics: advances in brief: Neuroblastoma and congenital cardiovascular malformations
Letters to the Editor
Programme
Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.
Molecular genetics of neurofibromatosis type 1 (NF1).
Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).
Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.
Color Atlas of Inherited Connective Tissue Disorders
The epidemiology of anotia and microtia.
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.
Locus heterogeneity in progressive familial intrahepatic cholestasis.
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
Zellweger syndrome and associated phenotypes.
Pancreatic adenocarcinoma: epidemiology and genetics.
Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.
Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents.
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.
An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
Rapid diagnostic test for the major mutation underlying Batten disease.
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).
Heterotaxia syndromes and 22q11 deletion.
Letters to the Editor
Association between alcoholism and the dopamine D4 receptor gene.
The genetics of cornea plana congenita.
On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members.
Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.
The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.
Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter-->Xq13.
Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?
Simple tests for rhodopsin involvement in retinitis pigmentosa.
Principles and Practice of Sleep Medicine in the Child
A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36.
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
Maternal Genetic Disease
Genetics and You
Marfan syndrome.
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
Mirror hands and feet: a further case of Laurin-Sandrow syndrome.
Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.
A cross sectional study of renal involvement in tuberous sclerosis.
Family history and perceived vulnerability to some common diseases: a study of young people and their parents.
Defects in the determination of left-right asymmetry.
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
Association between serotonin type 2 receptor (HTR2) and bronchial asthma in humans.
Evidence of maternal segregation distortion in the sickle cell and beta thalassaemia traits.
Confined placental mosaicism.
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.
Holoprosencephaly in the west of Scotland 1975-1994.
Possible autosomal recessive inheritance of progressive hearing loss with stapes fixation.
Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.
A mild phenotype associated with der(9)t(3;9) (p25;p23).
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.
Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35.
PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.
Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.
Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.
Non-Isotopic Methods in Molecular Biology. A Practical Approach
Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.
Attitudes towards cancer predictive testing and transmission of information to the family.
Genetic heterogeneity of Usher syndrome type II in a Dutch population.							✓		Dutch population
The male excess in Down's syndrome.
Predictive genetic testing in children.
Genetics of Criminal and Antisocial Behaviour
Color Atlas of Congenital Malformation Syndromes
Linkage mapping/marker polymorphisms
Laboratory techniques in molecular genetics
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
Detection of a familial cryptic translocation by fluorescent in situ hybridisation.
DNA Cloning 2: A Practical Approach. Expression Systems
Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.
Linkage and association of the HLA gene complex with IDDM in 81 Danish families: strong linkage between DR beta 1Lys71+ and IDDM.							✓		Danish
Improved genetic mapping of X linked retinoschisis.
Three histopathological types of retinoblastoma and their relation to heredity and age of enucleation.
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.
Marfan syndrome.
Selection for presymptomatic testing for Huntington's disease: who decides? A reply from the Victorian Clinical Genetics Service, Murdoch Institute, Melbourne, Australia.
Microsatellite instability in early onset and familial colorectal cancer.
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.
Familial psychiatric presentation of Huntington's disease.
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
Down syndrome in sub-Saharan Africa.
Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile.							✓		Middle Eastern origin
Medical genetics: advances in brief: Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence
Genetics in primary care. Report on workshop of EC Concerted Action on Genetics Services in Europe (CAGSE) in association with the Royal College of GP Spring Meeting, Blackpool, UK, 28 April 1995.
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
A boy with developmental delay and a maternally inherited deletion in 15q11q13.
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset.
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.
Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
Medical genetics: advances in brief: Canavan disease: from spongy degeneration to molecular analysis
NEW SOFTWARE: Cyrillic 2.0 for Pedigree Drawing
Down syndrome in association with features of the androgen insensitivity syndrome.
An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.
Medical genetics: advances in brief: Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin
Still no evidence for heterogeneity in Best's vitelliform macular dystrophy.
Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
Rett syndrome.
Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence?
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making.
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).
Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.
Medical genetics: advances in brief
Psychological aspects of von Recklinghausen neurofibromatosis (NF1)
Epidemiology/population genetics
Differentiation and development
Physical mapping
Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans.
The representation of ethnic minorities at genetic clinics in Birmingham.
Clinical features of cystic fibrosis patients with rare genotypes.
Evidence for a fourth locus in Usher syndrome type I.
Nonisotopic Probing, Blotting, and Sequencing
Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population.							✓		British population
Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing.
Medical genetics: advances in brief: Human homolog of patched, a candidate gene for the basal cell nevus syndrome
The Genetical Analysis of Quantitative Traits
Unexpected HLA haplotype sharing in dizygotic twin pairs discordant for rheumatoid arthritis.
Medical genetics: advances in brief: Specificity, sensitivity, and predictive value of apolipoprotein-E genotyping for sporadic Alzheimer's disease.
Cancer families: what risks are they given and do the risks affect management?
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Fine mapping of the dyskeratosis congenita locus in Xq28.
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
A genetic register for von Hippel-Lindau disease.
Medical genetics: advances in brief: Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
Medical genetics: advances in brief: Linkage to BRCA 2 region in hereditary male breast cancer
Medical genetics: advances in brief: Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities
CTG repeat length in muscle from patients affected with myotonic dystrophy (DM)
Selection for presymptomatic testing for Huntington's disease: who decides?
Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.
Ascertainment of familial ovarian cancer in the Aberdeen Genetic Clinic.
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procolla
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.
Confirmation of linkage of Sjogren-Larsson syndrome to chromosome 17 in families of different ethnic origins.							✓		different ethnic origins
Medical genetics: advances in brief: Mutations in the dystrophin-associated protein -sarcoglycan in chromosome 13 muscular dystrophy
Fetal Medicine: Prenatal Diagnosis and Management
BSHG is born
Implications for medical genetics of the House of Commons Science and Technology Committee's report on human genetics.
Holt-Oram syndrome: a clinical genetic study.
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.
Syndromes with lissencephaly.
The angiotensin-I converting enzyme (ACE) gene I/D polymorphism and ACE levels in Pima Indians.
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation.
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists.
Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions.
Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Unusual molecular findings in autosomal recessive spinal muscular atrophy.
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
Medical genetics: advances in brief: Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations
Increased incidence of cancer in first degree relatives of women with double primary carcinomas of the breast and colon.
Attitudes towards bipolar disorder and predictive genetic testing among patients and providers.
Reply
Distribution of oculocutaneous albinism in Zimbabwe.
Gorlin syndrome associated with midline nasal dermoid cyst.
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
Medical genetics: advances in brief: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
Medical genetics: advances in brief: Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome
Rett syndrome, classical and atypical: genealogical support for common origin.
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.
Clinical genetics
Gene structure and regulation
Mutation analysis
Professor Anita Harding
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
Currarino triad with a terminal deletion 7q35-->qter.
Megalocornea-mental retardation syndrome: report of a new case.
Loss of heterozygosity in tuberous sclerosis hamartomas.
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.
Nijmegen breakage syndrome.
Medical genetics: advances in brief: Magnetic resonance imaging in phenylketonuria
Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
A new deletion of 18q23 with few typical features of the 18q- syndrome.
Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
A novel splice site mutation in a Becker muscular dystrophy patient.
Renal and urological tract malformations caused by a 22q11 deletion.
Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).
Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.
A Scottish family with Bazex-Dupre-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma.
Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
Autosomal Dominant Polycystic Kidney Disease
German family study on hereditary breast-ovarian cancer.
Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.							✓		Scottish
Prevalence of 22q11 microdeletion.
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
Biochemical genetics