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Hulsebos TJM, Kenter SB, Jakobs ME, Baas F, Chong B and Delatycki MB. SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.
Schwannomatosis is characterized by the development of multiple schwannomas of the nervous system, but without the occurrence of vestibular schwannomas. Most cases of schwannomatosis are thought to be sporadic, representing the first case in a family due to a new mutation...
Astrocytomas are the most common tumors of the brain. Frequent genetic events within high grade astrocytomas are allelic losses on chromosomes 9p (including the p16 gene), 10, and 17p (including the p53 gene) and amplification of the EGFR gene on chromosome 7p. Less frequently occurring aberrations are allelic losses on chromosomes 1p, 11p, 13q, 19q, and 22q and amplification of the proto-oncogene...
By using primers complementary to the rat βB1 crystallin gene sequence, we amplified exons 5 and 6 of the orthologous human gene (CRYBB1). The amplified human segments displayed greater than 88% sequence homology to the corresponding rat and bovine sequences.CRYBB1was assigned to the group 5 region in 22q11.2–q12.1 by hybridizing the exon 6 PCR product to somatic cell hybrids containing defined portions...
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