| Mitochondrial DNA analysis: polymorphisms and pathogenicity |
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| Genetics of bipolar disorder |
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| Microdeletions in FMR2 may be a significant cause of premature ovarian failure |
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| Frequency and predictive value of 22q11 deletion |
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| Mutational analysis using oligonucleotide microarrays |
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| Closing time for CATCH22 |
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| A molecular investigation of true dominance in Huntington's disease |
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| X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 |
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| Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype |
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| Schimke immuno-osseous dysplasia: case report and review of 25 patients |
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| Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia |
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| Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome |
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| A missense mutation in both hMSH2 andAPC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening |
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Ashkenazi Jewish |
| A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus |
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| The future JMG: www.jmedgenet.com |
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| Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders |
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| Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy |
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| Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome |
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| A highly accurate, low cost test forBRCA1 mutations |
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| Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1 |
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| Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression |
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| Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation |
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| Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma |
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Roms (Gypsies), Slovak Roms |
| Clinical and molecular genetics of Stickler syndrome |
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| Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome |
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Turkish families |
| Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome |
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| A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants |
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| Analysis of germline CDKN1C (p57<sup>KIP2</sup>) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation |
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| Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling |
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| Genetic analysis of the guanylate cyclase activator 1B (<i>GUCA1B</i>) gene in patients with autosomal dominant retinal dystrophies: Table 1 |
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| New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey |
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| A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus |
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Dutch; American |
| The face of Smith-Magenis syndrome: a subjective and objective study |
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| Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy |
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| Identification of a frameshift mutation in the gene <i>TWIST</i>in a family affected with Robinow-Sorauf syndrome |
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| A mutation in the RIEG1 gene associated with Peters’ anomaly |
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| Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune versus infectious disease susceptibility |
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| A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family |
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Dutch-Canadian |