Journal of Medical Genetics - 1997

302 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
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease.
Gregor Mendel--The First Geneticist
Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene.
Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique.
Radial aplasia and chromosome 22q11 deletion.
DNA and Protein Sequence Analysis
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplo
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach
Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues
Chromosomes Today
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.
Familial transmission of the FMR1 CGG repeat
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
Identification of a recombination event narrowing the Lafora disease gene region.
The 12 base pair duplication/insertion alteration could be a regulatory mutation.
Medical genetics: advances in brief
London Dysmorphology Database and London Neurogenetics Database with Photo Library
Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.
Medical genetics: advances in brief: The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Medical genetics: advances in brief
Unusual traits associated with Robinow syndrome.
Molecular Mechanisms of Dementia
Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.
Maternal uniparental disomy 7 in Silver-Russell syndrome.
Fortuitous detection of uniparental isodisomy of chromosome 6.
Correction
A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism.
Characterisation of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH.
The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
Correction
Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?
Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).
Medical genetics: advances in brief: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
Medical genetics: advances in brief
Genetic heterogeneity of Meckel syndrome.
Peutz-Jeghers syndrome.
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
Molecular basis of mild hyperphenylalaninaemia in Poland.
Medical genetics: advances in brief
Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
Muscular involvement in the Holt-Oram syndrome.
Haemochromatosis: a gene at last?
Familial complex chromosome rearrangement ascertained by in situ hybridisation.
Letters to the Editor
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.
Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.
Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.
Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.
Report of the Fifth European Meeting on Psychosocial Aspects of Genetics.
Reply
Raising the sensitivity of fetal RhD typing and sex determination from maternal blood.
Familial Cancer Management
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.
Chromosome 22q11 deletion presenting as the Potter sequence.
Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.
Mosaicism for trisomy 3q arising from an unbalanced, de novo t(3;15).
A report of a child with a deletion (9)(q34.3): a recognisable phenotype?
Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.
A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.
Medical genetics: advances in brief: Contribution of BRCA1 mutations to ovarian cancer
At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.					✓				European descent
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
Evaluation of a project to enhance knowledge of hereditary diseases and management.
Instability of normal (CTG)n alleles in the DM kinase gene.
Prader-Willi syndrome.
Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.
China's eugenics law: position statement of the Canadian College of Medical Geneticists.
Effects of consanguineous marriage on reproductive outcome in an Arab community in Israel.							✓		Arab community
Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.							✓		Sardinian descent
The role and practice of the genetic nurse: report of the AGNC Working Party.
Alagille syndrome.
Medical genetics: advances in brief: Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease
Neurology of Hereditary Metabolic Disorders of Children
Genetic counselling: the psychological impact of meeting patients' expectations.
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.
Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene.
Menkes disease: recent advances and new aspects.
CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.
Alport's syndrome.
Non-invasive perinatal necropsy by magnetic resonance imaging
Starting and Sustaining Genetic Support Groups
Autosomal dominant inheritance of Weaver syndrome.
Interstitial deletion of band 3q25.
Technologies for Detection of DNA Damage and Mutations
Genetics in Anesthesiology
Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Delineation of 14q32.3 deletion syndrome.
Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.
A case of Lenz microphthalmia syndrome.
RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.
Waardenburg syndrome.
Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.
Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents.
Subcellular Biochemistry
Cultural and Ethnic Diversity. A Guide for Genetics Professionals
The elusive Angelman syndrome critical region.
Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.
Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.
Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome.
Human Genetics--A Problem Based Approach
Genetic Selection through Reproduction Technology. State of the Art and Implications
Fragile X syndrome is less common than previously estimated.
No evidence for uniparental disomy as a common cause of Sotos syndrome.
Clinical, cytogenetic, and molecular analysis of three families with FRAXE.
46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis.
Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.
De novo deletions in spinal muscular atrophy: implications for genetic counselling.
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.
Gaucher disease plus.
Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.
DNA testing for fragile X syndrome: implications for parents and family.
Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.
Misleading linkage results in an NF2 presymptomatic test owing to mosaicism.
Methionine synthase and neural tube defects.
Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion?
Cell Therapy
Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dysplasia.
Genes VI
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.
Germline and somatic mosaicism in a female carrier of Hunter disease.
Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.
An Introduction to Recombinant DNA in Medicine
Human Molecular Genetics
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.
Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.
Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.
Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.
Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy.
RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.
Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
Molecular-cytogenetic detection of a deletion of 1p36.3.
Etiology and Pathogenesis of Down Syndrome
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.
The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.
Further delineation of Nevo syndrome.
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
Fragile X Syndrome: Diagnosis, Treatment and Research
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location.
Lethal femoral-facial syndrome: a case with unusual manifestations.
Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia.
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors.
Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
A case of apparent trisomy 21 without the Down's syndrome phenotype.
Medical genetics: advances in brief: Incidence of insulin-dependent diabetes mellitus among Sardinia-heritage children born in Lazio region, Italy
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?
Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.
Assessment of French patients with LPL deficiency for French Canadian mutations.							✓		French; French Canadian
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
Familial four breakpoint complex chromosomal rearrangement as a cause of monosomy 9p22-->pter and trisomy 10p11.2-->pter and 11q21 analysed by dual and triple colour FISH.
Mirror hands and feet.
The Child with Multiple Birth Defects
Genetic Disorders among Arab Populations
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
Interstitial duplication of the short arm of chromosome 2: report of a new case and review.
Genotype-phenotype correlation in five cystic fibrosis patients homozygous for the 621 + 1G-->T mutation.
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
Metacarpophalangeal pattern (MCPP) profile analysis in a family with triphalangeal thumb.
Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease.
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Persistence of Mediterranean anaemia in Sicily.
The Gene Bomb
Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.							✓		Chinese families
Frequency of the G6PD nt 1311 C/T polymorphism in English and Iranian populations: relevance to studies of X chromosome inactivation.
Grebe syndrome: a second case with extremely severe manifestations.
Correction
Features of DiGeorge syndrome and CHARGE association in five patients.
BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients.
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
Fucosidosis: genetic and biochemical analysis of eight cases.
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.
Medical genetics: advances in brief: Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis
Parents' responses to predictive genetic testing in their children.
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.
Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.
Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
Support for the prion hypothesis for inheritance of a phenotypic trait in yeast
Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.
Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
The Gene Bomb
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP.
Pure hereditary spastic paraplegia.
Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.
Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.
Medical genetics: advances in brief: Familial intracranial aneurysms
Marfan syndrome.
Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36.
Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.
Cost effectiveness of DNA diagnosis for four monogenic diseases.
A simplified assay for the arylamine N-acetyltransferase 2 polymorphism validated by phenotyping with isoniazid.
Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.
Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.
Medical genetics: advances in brief: Somatic inactivation of the VHL gene in von Hippel-Lindau disease tumours
Severe manifestations in carrier females in X linked retinitis pigmentosa.
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina.
Marshall-Smith syndrome: the expanding phenotype.
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.
Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
Essential Medical Genetics
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
Paternal transmission of congenital myotonic dystrophy.
Medical genetics: advances in brief: Population genetics of BRCA1 and BRCA2
Evidence for a cryptic 46,XX cell line in a 45,X/46,X,psu idic(Xq) patient with normal reproduction.
An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).
Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis.
Androgen insensitivity with mental retardation: a contiguous gene syndrome?
Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
D409H/D409H genotype in Gaucher-like disease.
Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W.
De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).
Prenatal detection of fetal aneuploidies using transcervical cell samples.
The Y specific growth gene(s): how does it promote stature?
Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.
Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
Ehlers-Danlos syndrome has varied molecular mechanisms.
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
The effects of genotype and infant weight on adult plasma levels of fibrinogen, factor VII, and LDL cholesterol are additive.
Progressive pseudorheumatoid dysplasia: report of a family and review.
Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.
The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
Emery and Rimoin's Principles and Practice of Medical Genetics
Molecular Biology of Cancer
The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing.
Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.
"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?
Monozygotic twins discordant for Aicardi syndrome.
Medical genetics: advances in brief
A study of brothers with Klinefelter syndrome.
Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.
Uptake of genetic testing for cancer predisposition.
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.
Autosomal recessive diseases among Palestinian Arabs.
Medical genetics: advances in brief: Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome
A new cytofluorometric approach to detect fetal cells in the maternal circulation.
Segregation distortion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families.
Wolfram (DIDMOAD) syndrome.
Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.
Molecular characterisation of cystic fibrosis patients in the state of Sao Paulo (Brazil)
Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families.
Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.
Germline duplication of chromosome 2p and neuroblastoma.
Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son.
Dentato-olivary dysplasia in sibs: an autosomal recessive disorder?
Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families.
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
Hereditary spinal neurofibromatosis: a rare form of NF1?
Global prevalence of putative haemochromatosis mutations.
Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.
Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13.
Methods in Molecular Medicine: Molecular Diagnosis of Genetic Diseases
Genetic Intervention on Human Subjects
Genomic Imprinting: Causes and Consequences
Intelligence indices in people with a high/low risk for developing Huntington's disease.
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
What do we mean by genetic testing?
Targeting of Drugs 5. Strategies for Oligonucleotide and Gene Delivery in Therapy