De Luca A, Torrente I, Mangino M, Bertini E, Dallapiccola B, Novelli G. A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy. Hum Hered. 1999 Jan;49(1):59-60
Capon F, Novelli G, Semprini S, Clementi M, Nudo M, Vultaggio P, Mazzanti C, Gobello T, Botta A, Fabrizi G, Dallapiccola B.Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol. 1999 Jan; 112(1):32-5.
Mangino M, Torrente I, De Luca A, Sanchez O, Dallapiccola B, Novelli G. A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene. J Hum Genet. 1999;44(1):76-7.
Semprini S, Capon F, Bovolenta S, Bruscia E, Pizzuti A, Fabrizi G, Schietroma C, Zambruno G, Dallapiccola B, Novelli G. Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility. Hum Genet. 1999 Feb;104(2):130-4.
Serafino AL, Novelli G, Di Sario S, Colosimo A, Amicucci P, Sangiuolo F, Mossa G, Dallapiccola B. Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene. Biochem Mol Biol Int. 1999 Feb;47(2):337-44
Colosimo A, Xu Z, Novelli G, Dallapiccola B, Gruenert DC. Simple version of "megaprimer" PCR for site-directed mutagenesis. Biotechniques. 1999 May;26(5):870-3
Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. J Med Genet. 1999 Jun;36(6):478-80.
Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I,Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G,Scambler P. Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. Am J Hum Genet. 1999 Jul;65(1):247-9
Pizzuti A, Novelli G, Ratti A, Amati F, Bordoni R, Mandich P, Bellone E, Conti E, Bengala M, Mari A, Silani V, Dallapiccola B. Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. Mol Genet Metab. 1999 Jul;67(3):227-35
Novelli G, Amati F, Dallapiccola B. UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? Trends Genet. 1999 Jul;15(7):251-4
Gennarelli M, Pavoni M, Amicucci P, Angelini C, Menegazzo E, Zelano G, Novelli G, Dallapiccola B. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. Neuromuscul Disord. 1999 Jun;9(4):215-9
Colosimo A, Serafino A, Sangiuolo F, Di Sario S, Bruscia E, Amicucci P, Novelli G, Dallapiccola B, Mossa G. Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes. Biochim Biophys Acta. 1999 Jul 15;1419(2):186-94
Mangino M, Sanchez O, Torrente I, De Luca A, Capon F, Novelli G, Dallapiccola B. Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22. Am J Hum Genet. 1999 Aug;65(2):441-7
Novelli A, Sabani M, Caiola A, Digilio MC, Giannotti A, Mingarelli R, Novelli G, Dallapiccola B. Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears. Mol Cell Probes. 1999 Aug;13(4):303-7
Gennarelli M, Pavoni M, Cruciani F, De Stefano G, Dallapiccola B, Novelli G. CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia. Hum Genet. 1999 Jul-Aug;105(1-2):165-7
Servidei S, Capon F, Spinazzola A, Mirabella M, Semprini S, de Rosa G, Gennarelli M, Sangiuolo F, Ricci E, Mohrenweiser HW, Dallapiccola B, Tonali P, Novelli G. A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. Neurology. 1999 Sep 11;53(4):830-7
Capon F, Semprini S, Dallapiccola B, Novelli G. Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21. Am J Hum Genet. 1999 Dec;65(6):1798-800
Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B. Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet. 1999 Dec;7(8):903-9
Botta A, Sangiuolo F, Calza L, Giardino L, Potenza S, Novelli G, Dallapiccola B. Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome. Genomics. 1999 Dec 15;62(3):525-8
