| HotSpots — A new feature in Clinical Genetics |
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| VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13‐q21.2) |
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| Aortic root dilatation in Ehlers‐Danlos syndrome types I, II and III A report of five cases |
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| Rsal and Mael intragenic RFLPs in the human HERG gene |
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| Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene |
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| Photoanthropometric study of craniofacial traits in individuals with Prader‐Willi syndrome on short‐term growth hormone therapy |
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| Extending a hand to GLI3: functionally different GLI3 mutations in postaxial polydactyly, Greig's cephalopolysyndactyly syndrome and Pallister—Hall syndrome |
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| Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay |
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| <i>Sac</i> I identifies a biallelic polymorphism in the coding sequence of the gamma subunit of the epithelial sodium channel (ENaC): a candidate gene for hypertension |
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| Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity |
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| Genetic landmarks through philately – Gregor Johann Mendel (1822–1884) |
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| Prevalence of homozygosity for the deleted alleles of glutathione S‐transferase mu (GSTMl) and theta (GSTTl) among distinct ethnic groutx from Brazil: relevance to enviromental carcinogenesis? |
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Brazilian Black subjects; Amazonian Indians; African descendants; distinct Brazilian racial groups; |
| Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6 |
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| ACTH receptor mutation in a girl with familial glucocorticoid deficiency |
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| The 4q‐syndrome: delineation of the minimal critical region to within band 4q31 |
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| Recessive or dominant? Reclassification in the molecular age |
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| Exploring gene—gene interactions in the etiology of neural tube defects |
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| A deletion involving exons 2–4 in the iduronate‐2‐sulfatase gene of a patient with intermediate Hunter syndrome |
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| Multifactorial age‐related macular degeneration allelic with autosomal recessive Stargardt macular dystrophy |
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| Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate‐dehydrogenase, methenyltetrahydrofolate‐cyclohydrolase, formyltetrahydrofolate synthetase) in |
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| DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer |
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✓ |
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Swedish |
| High frequency of IgE receptor FcεRIß variant (Leu181/Leu183) in Kuwaiti Arabs and its association with asthma |
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| Duchenne mouse knocked out by two blows |
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| Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis |
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| Glucose‐6‐phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la |
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| Serum lipids and apolipoprotein E phenotypes in identical twins reared apart<sup>1</sup> |
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| Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients |
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| Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype |
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| G<sub>2</sub> repair in Nijmegen breakage syndrome: G<sub>2</sub> duration and effect of caffeine and cycloheximide in control and X‐ray irradiated lymphocytes |
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| Discordant repeat size and phenotype in Kennedy syndrome |
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| Molecular and cytogenate analysis of an X/autosomal translocation: 45, X, dic(X;17)(p22.2;p13) |
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| Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 <i>de novo</i>) |
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| Apolipoprotein E genotypes in offspring with a positive and negative family history of premature myocardial infarction |
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Slovak |
| Partners with reciprocal translocations: genetic counseling for the ‘double translocation’ |
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| Jumping translocation with partial duplications and triplications of chromosomes 7 and 15 |
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| Association of long variants of the dopamine D4 receptor exon 3 repeat polymorphism with Parkinson's disease |
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| Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia |
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| A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13) |
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| The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q |
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| Prion protein: when more is less and less is more |
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| Prevalence of high affinity IgE receptor [FcεRIβ] gene polymorphisms in Kuwaiti Arabs with asthma |
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Kuwaiti Arabs |
| Announcements |
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| Developmental eye disease — a genome era paradigm |
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| Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia |
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European populations; North American |
| Fragile X syndrome, mental retardation and macroorchidism |
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| Genetic testing and insurance in the United Kingdom |
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| Risk factors for mortality in young children living under various socio‐economic conditions in Lahore, Pakistan: with particular reference to inbreeding |
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| No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men |
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| Inherited breast cancer: an emerging picture |
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| Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus |
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| Coronary artery disease is not associated with the E298 → D variant of the constitutive, endothelial nitric oxide synthase gene |
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| New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies |
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| Three novel <i>PROC</i> gene lesions causing protein C deficiency |
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| Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis |
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| Methods to detect the RYR1 G742A and A1565C mutations associated with malignant hyperthermia using a PCR‐modified restriction sites technique |
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| Lack of association between ACE gene polymorphisms and 4 and asthma in British and Japanese populations |
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| Generalised muscle hypertonia with mask‐like face (Freeman‐Sheldon syndrome) in a Tanzanian girl |
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| The Met54Leu polymorphism of paraoxonase (PON) enzyme gene is not a genetic risk factor for non‐insulin‐dependent diabetes mellitus in Finns |
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Finns |
| A bone master gene, CBFAI, culpable in Cleidocranial dysplasia |
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| Killed by the clock |
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| A presynaptic Parkinson gene: α‐synuclein |
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| Genotype ‐phenotype correlation in myotonic dystrophy |
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Austrian |
| A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes |
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| Association between asthma and an intragenic variant of CC16 on chromosome 11q13 |
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| Getting too excited: potassium channelopathies and newborn epilepsy |
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| Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients |
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| A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) |
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| Presenilin 1 Met146Leu variant due to an A&T transversion in an early‐onset familial Alzheimer's disease pedigree from Argentina |
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South American; Argentina; Italian |
| Sclerosteosis: report of a case in a black African man |
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a white population of Dutch ancestry; black; black African man |
| A new period in time for geneticists Positional cloning of the mouse circadian clock gene |
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| Who are our ancestors? Insights from mitochondrial mutations: molecular time machines over the millennia |
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| Diabetes and pancreatic agenesis |
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| Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports |
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| Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy |
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| A case of insertional translocation involving chromosomes 2 and 4 |
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| No relation between apolipoprotein E alleles and obstructive sleep apnea |
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| Developmental Biology: Frontiers for Clinical Genetics: Overgrowth syndromes and genomie imprinting: from mouse to man |
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| DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome |
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✓ |
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| The intermediate alleles of the fragile X CGG repeat in patients with mental retardation |
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| A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X‐linked hypohidrotic ectodermal dysplasia |
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Danish families |
| Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card |
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| Polymorphisms at the angiotensinogen (AGT) and angiotensin II type 1 receptor (AT1R) loci and normal blood pressure |
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Norwegians |
| A novel point mutation associated with alkaptonuria |
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| A novel Ashkenazi predisposing mutation |
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Ashkenazi |
| Pendred syndrome and the importance of being sulphated: Pendred syndrome is caused by a mutation in a putative sulphate transporter gene (PDS) Everett et al. (1997) Nat Genet 17: 411–421 |
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| Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome |
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| A novel mutation of the β‐glucocererebrosidase gene associated with neurologic manifestations in three sibs |
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| Complex chromosomal rearrangements associated with congenital erythrophagocytotic histiocytosis |
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| Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1) |
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| A novel Mbo II polymorphism in exon 15 of the human adenomatous polyposis coli gene |
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| A new kind of mutation: dinucleotide deletions in Alzheimer's disease transcripts |
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| Developmental Biology: Frontiers for Clinical Genetics: Limb development: molecular dysmorphology is at hand! |
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| Clinical, biochemical and molecular findings in a two‐generation Morquio A family |
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| Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I |
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| Genotyping of the polymorphic <i>N</i>‐acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients |
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| Noonan syndrome associated with central giant cell granuloma |
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| Hemochromatosis: genetics helps to define a multifactorial disease |
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| Recent progress in the molecular genetics of congenital heart defects |
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| New insights into the genetics of lissencephaly |
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| Spinal muscular atrophy: a disease of altered RNA metabolism? |
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| Functional mosaic trisomy of 1q12 1q21 resulting from X‐autosome insertion translocation with random inactivation |
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| The yeast genome and clinical genetics |
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| Genetics of speech sounds great |
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| Life expectancy in British Marfan syndrome populations |
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| Spinal and bulbar muscular atrophy (SBMA): Somatic stability of an expanded CAG repeat in fetal tissues |
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| Involvement of 9q22.1–31.3 region in pyloric stenosis |
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| Monozygotic monoamniotic twins discordant for urethral and anal atresia with vesicorectal fistula: a favourable combination of defects |
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| Genetic landmarks through philately — The Habsburg jaw |
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| HotSpots |
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| Genetic variants of the human obesity (<i>OB</i>) gene in subjects with and without Prader—Willi syndrome: comparison with body mass index and weight |
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| Genetic variation in paraoxonase‐2 is associated with variation in plasma lipoproteins in Canadian Oji‐Cree |
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| Severe malformations in males from families with osteopathia striata with cranial sclerosis |
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| Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association |
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| Detection of more than 91% cystic fibrosis mutations in a sample of the population from Reunion Island and identification of two novel mutations (A309G, S1255L) and one novel polymorphism (L49L) |
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| Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome |
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| Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X‐linked mental retardation syndrome? |
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| Announcements |
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| Genetic landmarks through philately — symbols in medicine |
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| Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales |
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| Corneal arcus, case finding and definition of individual clinical risk in heterozygous familial hypercholesterolaemia |
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| Cell proliferation rate and nuclear morphometry in Roberts syndrome |
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| Mosaic supernumerary marker chromosome identified as a der(3) by FISH |
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| Announcements |
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| A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil |
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| Severe mental retardation ‐ distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a lOq25→qter deletion |
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| Jagged gene responsible in Alagille syndrome |
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| The Asn9 variant of lipoprotein lipase is associated with the — 93G promoter mutation and an increased risk of coronary artery disease |
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✓ |
✓ |
Dutch males |
| Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac‐Saint‐Jean (Quebec, Canada) |
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| Severe cystic fibrosis associated with a AF508/R347H + D979A compound heterozygous genotype |
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German father |
| Caught in the middle: two genes troubled by trinucleotide expansion in myotonic dystrophy |
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| Finding the significance of stats: insights into FGFR3 activating mutations in Thanatophoric dysplasia |
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| Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B |
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✓ |
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Danish families |
| Ehlers‐Danlos syndrome and type III collagen abnormalities: a variable clinical |
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| Detection of factor V Leiden mutation in severe pre‐eclamptic Hungarian women |
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Hungarian |
| Identification of microsatellite markers tightly linked to the <i>Gli2</i> putative zinc finger transcription factor gene |
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| Prenatal identification of<i>de novo</i>marker chromosomes using micro‐FISH approach |
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| A novel Dral polymorphism in the 3‘ untranslated region of human glucose‐6‐phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a |
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| Announcements |
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| Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation |
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| Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy |
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| Clinical, morphological and biochemical features in the familial articular hypermobility syndrome (FAHS): a family study |
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| Maternal cell contamination of buccal smear samples in nursing neonates |
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| Inherited microdeletion in Xp21.3–22.1 involved in non‐specific mental retardation |
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| Chromosomal instability in Marinesco‐Sjögren Syndrome associated with acute myeloblastic leukemia |
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| Developmental Biology: Frontiers for Clinical Genetics |
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| The new face of an old villain ‐ cholesterol |
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| Defects in the human homolog of Drosophila diaphanous in non‐syndromic deafness |
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| Deletion of chromosome 3q proximal region gives rise to a variable phenotype |
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| Normal growth in Angelman syndrome due to paternal UPD |
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| Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis |
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| Centromeric alphoid DNA heteromorphisms of chromosome 22 revealed by FISH‐technique |
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| The fatal attraction of polyglutamine‐containing proteins |
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| Now there are eight: CAG expansion underlies spinocerebellar ataxia type 7 |
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| Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature |
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| Tetranucleotide repeat polymorphism at the CCSP gene |
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| Cerebral aqueductal stenosis as a presentation of deletion 6q25‐qter |
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| Apolipoprotein E alleles in mothers of trisomy 18 conceptuses |
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| Internet databases for clinical geneticists ‐ an overview<sup>1</sup> |
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| Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients |
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| Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α‐glucosidase gene |
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✓ |
✓ |
Dutch, The Netherlands, France, French |
| Developmental Biology: Frontiers for Clinical Genetics |
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| An unexpected cause for combined deficiency of coagulation factors V and VIII |
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| Linkage analysis in a large Spanish family with X‐linked retinitis pigmentosa: phenotype—genotype correlation |
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✓ |
✓ |
Spanish |
| Low frequency of <i>RET</i> mutations in Hirschsprung disease in Sweden |
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✓ |
✓ |
Swedish population‐based samples; Sweden; Swedish |
| Analysis of an interstitial deletion in a patient with Kallmann syndrome, X‐linked ichthyosis and mental retardation |
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| Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa |
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✓ |
South African Afrikaners |
| SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis |
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| A hermaphrodite chimera resulting from in vitro fertilization |
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| Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families |
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✓ |
✓ |
Spanish families |
| Polymorphic variants within the homeobox gene <i>MSX1: a candidate gene for developmental disorders</i> |
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| Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers |
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| The common features of patients with partial trisomy of the long arm of chromosome 1 |
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| Pallister—Killian syndrome [i(12p)]: first pre‐natal diagnosis using cordocentesis in the second trimester confirmed by <i>in situ</i> hybridization |
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| Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly |
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| Charcot‐Marie‐Tooth phenotype produced by a duplicated PMP22 gene as part of a 17P trisomy‐translocation to the X chromosome |
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| Prenatal diagnosis of a trisomy 17p derived from a <i>de novo</i> non‐mosaic satellited marker |
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| HotSpots |
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| The long and the short of it: developmental genetics of the skeletal dysplasias |
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| Carrier detection in Duchenne and Becker muscular dystrophy Argentine families |
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| The evaluation of 15q proximal duplications by FISH |
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| Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease |
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| Severe classical congenital muscular dystrophy and merosin expression |
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| Molecular basis of cystic fibrosis in the Republic of Macedonia |
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| A family with three germline mutations in <i>BRCAl</i> and <i>BRCA2</i> |
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✓ |
✓ |
Ashkenazi Jewish |
| Dinucleotide repeat polymorphism within the tumor suppressor gene <i>PTCH</i> at 9q22 |
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| Distribution of CAG repeats in normal. and Huntington's disease patients in Israel |
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| Acheiropodia: new cases from Brazil |
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| Erratum |
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| Lumping and splitting: molecular biology in the genetics clinic |
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| 22q11.2 deletions in a series of patients with non‐selective congenital heart defects: incidence, type of defects and parental origin |
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| Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene |
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| Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates |
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| Holoprosencephaly: from Homer to Hedgehog |
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| A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region |
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| Kabuki (Niikawa‐Kuroki) syndrome associated with immunodeficiency |
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| Short polyalanine expansion: a new class of triplet repeat disorder |
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| Murine MPS I: insights into the pathogenesis of Hurler syndrome |
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| Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia |
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| A <i>‘de novo’</i> point mutation of the low‐density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia |
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✓ |
✓ |
Italian |
| Deletion in chromosome region 22q11 in a child with CHARGE association |
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| Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families |
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| Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome |
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| <i>De novo</i> direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2 |
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| Autosomal dominant inheritance of adducted thumbs and other digital anomalies |
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| Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene |
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| Infectious complications of propionic acidemia in Saudia Arabia |
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| Polymorphic exonic CAG microsatellites in the gene amplified in breast cancer (<i>AIB1</i> gene) |
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| Apolipoprotein E and A‐IV polymorphisms in the Estonian population |
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| A gene‐dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome |
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| Neuropathological findings in Moebius syndrome |
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| Variants of B cell lymphoma 6 (<i>BCL6</i>) and marked atopy |
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| Predictive testing for Huntington's disease: II. Qualitative findings from a study of uptake in South Wales |
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| Natural born killer: tau protein and its role in dementia |
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| Analysis of the transactivation domain of the androgen receptor in patients with male infertilitv |
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✓ |
✓ |
Indian or Middle‐Eastern subjects; Chinese |
| Identification of two novel mutations in the <i>OCRLI</i> gene in Japanese families with Lowe syndrome |
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| A <i>de novo</i> mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus‐Merzbacher disease |
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| Genetics of Parkinson's disease |
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| The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies |
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| Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia |
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| A new feature in Clinical Genetics |
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| Genotype-phenotype correlation in myotonic dystrophy |
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| 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin |
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| An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation |
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| Severe cystic fibrosis associated with a DeltaF508/R347H+D979A compound heterozygous genotype |
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| ACTH receptor mutation in a girl with familial glucocorticoid deficiency |
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| X‐inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency |
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| Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada) |
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| Associations of angiotensinogen gene mutations with hypertension and myocardial infarction in a gulf population |
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| Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity |
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| Genetic landmarks through philately - The Habsburg jaw |
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| t(1;18)(q32.1;q22.1) associated with genitourinary malformations |
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| Association between asthma and an intragenic variant of CC16 on chromosome 11q13 |
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| Presence of the AZF region in a female with an idic(Y)(q11) |
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| Autosomal dominant carpal tunnel syndrome |
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| The new Clinical Genetics: towards the millennium |
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| Developmental eye disease - a genome era paradigm |
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| Lumping and splitting: molecular biology in the genetics clinic |
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| HotSpots |
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| The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease |
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| The 4q-syndrome: delineation of the minimal critical region to within band 4q31 |
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| VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2) |
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| Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization |
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| Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q |
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| Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6 |
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| Mexican geneticists' opinions on disclosure issues |
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| Molecular analysis of two pre‐mutations in myotonic dystrophy |
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| A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes |
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| I1307K <i>APC</i> and <i>hMLH1</i> mutations in a non‐Jewish family with hereditary non‐polyposis colorectal cancer |
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✓ |
✓ |
French Canadian; Ashkenazi Jewish origins |
| Identification and characterization of a<i>de novo</i>partial trisomy 10p by comparative genomic hybridization (CGH) |
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| Fragile X syndrome, mental retardation and macroorchidism |
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| Two sisters with different chromosomal microdeletions: Rubinstein — Taybi syndrome and 22q deletion syndrome |
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| Fragile X and Rett syndromes in Puerto Rico |
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| Erratum |
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| Variants of B cell lymphoma 6 (BCL6) and marked atopy |
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