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Results: 26-50/66
Authors:
Dallapiccola, B
Novelli, G
Citation: B. Dallapiccola et G. Novelli, Male infertility, pleiotropic genes, and increased risk of diseases in future generations, J ENDOC INV, 23(9), 2000, pp. 557-559
Authors:
Margiotti, K
Sangiuolo, F
De Luca, A
Froio, F
Pearce, CL
Ricci-Barbini, V
Micali, F
Bonafe, M
Franceschi, C
Dallapiccola, B
Novelli, G
Reichardt, JKV
Citation: K. Margiotti et al., Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients, DIS MARKER, 16(3-4), 2000, pp. 147-150
Authors:
Obregon, MG
Digilio, MC
Mingarelli, R
Pacifico, C
Tieri, L
Giannotti, A
Dallapiccola, B
Citation: Mg. Obregon et al., Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome, AM J OTOLAR, 21(6), 2000, pp. 405-408
Authors:
Semprini, S
Mango, R
Brancati, F
Dallapiccola, B
Becherini, L
Novelli, G
De Lorenzo, A
Brandi, ML
Gennari, L
Citation: S. Semprini et al., Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women, CALCIF TIS, 67(1), 2000, pp. 93-94
Authors:
Digilio, MC
Marino, B
Giannotti, A
Di Donato, R
Dallapiccola, B
Citation: Mc. Digilio et al., Heterotaxy with left atrial isomerism in a patient with deletion 18p, AM J MED G, 94(3), 2000, pp. 198-200
Authors:
Tudisco, C
Canepa, G
Novelli, G
Dallapiccola, B
Citation: C. Tudisco et al., Familial mandibuloacral dysplasia: Report of an additional Italian patient, AM J MED G, 94(3), 2000, pp. 237-241
Authors:
Digilio, MC
Marino, B
Musolino, AM
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal, TERATOLOGY, 61(5), 2000, pp. 329-331
Authors:
Amicucci, P
Gennarelli, M
Novelli, G
Dallapiccola, B
Citation: P. Amicucci et al., Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma, CLIN CHEM, 46(2), 2000, pp. 301-302
Authors:
Pierdominici, M
Marziali, M
Giovannetti, A
Oliva, A
Rosso, R
Marino, B
Digilio, MC
Giannotti, A
Novelli, G
Dallapiccola, B
Aiuti, F
Pandolfi, F
Citation: M. Pierdominici et al., T cell receptor repertoire and function in patients with DiGeorge syndromeand velocardiofacial syndrome, CLIN EXP IM, 121(1), 2000, pp. 127-132
Authors:
Giglio, S
Graw, SL
Gimelli, G
Pirola, B
Varone, P
Voullaire, L
Lerzo, F
Rossi, E
Dellavecchia, C
Bonaglia, MC
Digilio, MC
Giannotti, A
Marino, B
Carrozzo, R
Korenberg, JR
Danesino, C
Sujansky, E
Dallapiccola, B
Zuffardi, O
Citation: S. Giglio et al., Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrumof congenital heart defects, CIRCULATION, 102(4), 2000, pp. 432-437
Authors:
Capon, F
Tacconelli, A
Giardina, E
Sciacchitano, S
Bruno, R
Tassi, V
Trischitta, V
Filetti, S
Dallapiccola, B
Noveili, G
Citation: F. Capon et al., Mapping a dominant form of multinodular goiter to chromosome Xp22, AM J HU GEN, 67(4), 2000, pp. 1004-1007
Authors:
Mangino, M
Torrente, I
De Luca, A
Sanchez, O
Dallapiccola, B
Novelli, G
Citation: M. Mangino et al., A single-nucleotide polymorphism in the human bone morphogenetic protein-4(BMP 4) gene, J HUM GENET, 44(1), 1999, pp. 76-77
Authors:
Pizzuti, A
Novelli, G
Ratti, A
Amati, F
Bordoni, R
Mandich, P
Bellone, E
Conti, E
Bengala, M
Mari, A
Silani, V
Dallapiccola, B
Citation: A. Pizzuti et al., Isolation and characterization of a novel transcript embedded within HIRA,a gene deleted in DiGeorge syndrome, MOL GEN MET, 67(3), 1999, pp. 227-235
Authors:
Serafino, AL
Novelli, G
Di Sario, S
Colosimo, A
Amicucci, P
Sangiuolo, F
Mossa, G
Dallapiccola, B
Citation: Al. Serafino et al., Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene, BIOC MOL B, 47(2), 1999, pp. 337-344
Authors:
Amati, F
Conti, E
Novelli, A
Bengala, M
Digilio, MC
Marino, B
Giannotti, A
Gabrielli, O
Novelli, G
Dallapiccola, B
Citation: F. Amati et al., Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome, EUR J HUM G, 7(8), 1999, pp. 903-909
Authors:
Mingarelli, R
Mokini, V
Scanderbeg, AC
Dallapiccola, B
Citation: R. Mingarelli et al., Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areasof skin depigmentation, CLIN DYSMOR, 8(1), 1999, pp. 73-75
Authors:
Gennarelli, M
Pavoni, M
Amicucci, P
Angelini, C
Menegazzo, E
Zelano, G
Novelli, G
Dallapiccola, B
Citation: M. Gennarelli et al., Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients, NEUROMUSC D, 9(4), 1999, pp. 215-219
Authors:
Novelli, A
Sabani, M
Caiola, A
Digilio, MC
Giannotti, A
Mingarelli, R
Novelli, G
Dallapiccola, B
Citation: A. Novelli et al., Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears, MOL CELL PR, 13(4), 1999, pp. 303-307
Authors:
Botta, A
Sangiuolo, F
Calza, L
Giardino, L
Potenza, S
Novelli, G
Dallapiccola, B
Citation: A. Botta et al., Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome, GENOMICS, 62(3), 1999, pp. 525-528
Authors:
Colosimo, A
Xu, Z
Novelli, G
Dallapiccola, B
Gruenert, DC
Citation: A. Colosimo et al., Simple version of "megaprimer" PCR for site-directed mutagenesis, BIOTECHNIQU, 26(5), 1999, pp. 870
Authors:
Digilio, MC
Marino, B
Giannotti, A
Mingarelli, R
Dallapiccola, B
Citation: Mc. Digilio et al., Guidelines for 22q11 deletion screening of patients with conotruncal defects, J AM COL C, 33(6), 1999, pp. 1746-1747
Authors:
Gennarelli, M
Pavoni, M
Cruciani, F
De Stefano, G
Dallapiccola, B
Novelli, G
Citation: M. Gennarelli et al., CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia, HUM GENET, 105(1-2), 1999, pp. 165-167
Authors:
Semprini, S
Capon, F
Bovolenta, S
Bruscia, E
Pizzuti, L
Fabrizi, G
Schietroma, C
Zambruno, G
Dallapiccola, B
Novelli, G
Citation: S. Semprini et al., Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility, HUM GENET, 104(2), 1999, pp. 130-134
Authors:
Digilio, MC
Pacifico, C
Tieri, L
Marino, B
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome), BR J AUDIOL, 33(5), 1999, pp. 329-333
Authors:
Novelli, G
Amati, F
Dallapiccola, B
Citation: G. Novelli et al., UFD1L and CDC45L - a role in DiGeorge syndrome and related phenotypes?, TRENDS GEN, 15(7), 1999, pp. 251-253