24 research outputs found
Diamond-Blackfan anemia (DBA)
Get PDFReview on Diamond-Blackfan anemia (DBA), with data on clinics, and the genes involved
Simpson-Golabi-Behmel syndrome
No full textReview on Simpson-Golabi-Behmel syndrome, with data on clinics, and the genes involved
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical glycine 502 serine substitutions in the α2 chain of type I collagen
No full textIn general, osteogenesis imperfecta is caused by heterozygous mutations in either of the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In this study, single-strand conformation polymorphism mapping analysis has been coupled with sequence analysis to identify a single base mutation in the alpha 2(I) gene of type I collagen; this mutation is identical in three unrelated individuals with perinatal lethal osteogenesis imperfecta. The heterozygous G to A transition at a CpG dinucleotide results in a Gly502Ser substitution in the alpha 2 chain of type I collagen
Mutation in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal
No full textIdentification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity
No full textClinicopathologic Spectrum of Glomerulocystic Kidneys: Report of Two Cases and a Brief Review of Literature
No full textYWHAE rearrangement identified by FISH and RT-PCR in endometrial stromal sarcomas: genetic and pathological correlations
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Infrequent p53 Gene Mutations and Lack of p53 Protein Expression in Clear Cell Sarcoma of the Kidney: Immunohistochemical Study and Mutation Analysis of p53 in Renal Tumors of Unfavorable Prognosis
No full textClear cell sarcoma of soft tissue: diagnostic utility of fluorescence in situ hybridization and reverse transcriptase polymerase chain reaction
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