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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.
Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Janssens K, et al. Among authors: migone n. J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13. J Med Genet. 2006. PMID: 15894597 Free PMC article. Review.
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.
Carbonara C, Longa L, Grosso E, Mazzucco G, Borrone C, Garrè ML, Brisigotti M, Filippi G, Scabar A, Giannotti A, Falzoni P, Monga G, Garini G, Gabrielli M, Riegler P, Danesino C, Ruggieri M, Magro G, Migone N. Carbonara C, et al. Among authors: migone n. Genes Chromosomes Cancer. 1996 Jan;15(1):18-25. doi: 10.1002/(SICI)1098-2264(199601)15:1<18::AID-GCC3>3.0.CO;2-7. Genes Chromosomes Cancer. 1996. PMID: 8824721
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Among authors: migone n. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC article.
102 results