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Page 1
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.
Eussen BH, Bartalini G, Bakker L, Balestri P, Di Lucca C, Van Hemel JO, Dauwerse H, van Den Ouweland AM, Ris-Stalpers C, Verhoef S, Halley DJ, Fois A. Eussen BH, et al. Among authors: bartalini g. J Med Genet. 2000 Apr;37(4):287-91. doi: 10.1136/jmg.37.4.287. J Med Genet. 2000. PMID: 10745047 Free PMC article.
High rate of mosaicism in tuberous sclerosis complex.
Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM. Verhoef S, et al. Among authors: bartalini g. Am J Hum Genet. 1999 Jun;64(6):1632-7. doi: 10.1086/302412. Am J Hum Genet. 1999. PMID: 10330349 Free PMC article.
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D. Nellist M, et al. Among authors: bartalini g. Eur J Hum Genet. 2009 Mar;17(3):319-28. doi: 10.1038/ejhg.2008.170. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830229 Free PMC article.
Chromosome 18 aberrations and epilepsy: a review.
Grosso S, Pucci L, Di Bartolo RM, Gobbi G, Bartalini G, Anichini C, Scarinci R, Balestri M, Farnetani MA, Cioni M, Morgese G, Balestri P. Grosso S, et al. Among authors: bartalini g. Am J Med Genet A. 2005 Apr 1;134A(1):88-94. doi: 10.1002/ajmg.a.30575. Am J Med Genet A. 2005. PMID: 15690352
Biochemical diagnosis of Canavan disease.
Bartalini G, Margollicci M, Balestri P, Farnetani MA, Cioni M, Fois A. Bartalini G, et al. Childs Nerv Syst. 1992 Dec;8(8):468-70. doi: 10.1007/BF00274411. Childs Nerv Syst. 1992. PMID: 1288858
Molecular study in von Recklinghausen neurofibromatosis (NF1).
Vivarelli R, Bartalini G, Calistri L, Balestri P, Figus A, Pirastu M, Cao A, Fois A. Vivarelli R, et al. Among authors: bartalini g. Childs Nerv Syst. 1991 Apr;7(2):98-9. doi: 10.1007/BF00247864. Childs Nerv Syst. 1991. PMID: 1907526
Biotinidase deficiency: metabolites in CSF.
Fois A, Cioni M, Balestri P, Bartalini G, Baumgartner R, Bachmann C. Fois A, et al. Among authors: bartalini g. J Inherit Metab Dis. 1986;9(3):284-5. doi: 10.1007/BF01799663. J Inherit Metab Dis. 1986. PMID: 3099073 No abstract available.
21 results