Chromosomes, Human, Pair 13

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  Subject Areas on Research

  • A second-generation genomic screen for multiple sclerosis. 
  • Abrogation of the Rb/p16 tumor-suppressive pathway in virtually all pancreatic carcinomas. 
  • Adjusting for covariates on a slippery slope: linkage analysis of change over time. 
  • Combined serum and ultrasound screening for detection of fetal aneuploidy. 
  • Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. 
  • Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig. 
  • Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein. 
  • Distinct regions of allelic loss on 13q in prostate cancer. 
  • Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) 
  • Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. 
  • Genetic changes in human adrenocortical carcinomas. 
  • Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. 
  • Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL). 
  • Genomewide Association Scan of a Mortality Associated Endophenotype for a Long and Healthy Life in the Long Life Family Study. 
  • Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end. 
  • Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. 
  • Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres. 
  • Identification of the breast cancer susceptibility gene BRCA2. 
  • Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. 
  • Integrated genomic profiling of chronic lymphocytic leukemia identifies subtypes of deletion 13q14. 
  • Isolated trisomy of chromosomes 8, 11, 13 and 21 is an adverse prognostic factor in adults with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B 8461. 
  • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 
  • Loss of chromosome 13 in a case of soft tissue perineurioma. 
  • Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18. 
  • Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. 
  • Multiple susceptibility loci for multiple sclerosis. 
  • Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. 
  • Organization and evolution of an alpha satellite DNA subset shared by human chromosomes 13 and 21. 
  • PCR amplification of chromosome-specific alpha satellite DNA: definition of centromeric STS markers and polymorphic analysis. 
  • Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation. 
  • Perinatal findings of partial trisomy 13q (13q14.1-->qter) resulting from paternal pericentric inversion of chromosome 13. 
  • Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. 
  • Prenatal diagnosis of mosaic trisomy 13: a case report. 
  • Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus. 
  • Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. 
  • The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. 
  • Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond. 
  • Unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis.