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Results: 1-25/41
Authors:
Digilio, MC
Marino, B
Cappa, M
Cambiaso, P
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome(deletion 22q11.2 syndrome), GENET MED, 3(1), 2001, pp. 30-33
Authors:
Marino, B
Digilio, MC
Toscano, A
Anaclerio, S
Giannotti, A
Feltri, C
de Ioris, MA
Angioni, A
Dallapiccola, B
Citation: B. Marino et al., Anatomic patterns of conotruncal defects associated with deletion 22q11, GENET MED, 3(1), 2001, pp. 45-48
Authors:
Tessa, A
Giannotti, A
Tieri, L
Vilarinho, L
Marotta, G
Santorelli, FM
Citation: A. Tessa et al., Maternally inherited deafness associated with a T1095C mutation in the mDNA, EUR J HUM G, 9(2), 2001, pp. 147-149
Authors:
Batoni, G
Pardini, M
Giannotti, A
Ota, F
Giuca, MR
Gabriele, M
Campa, M
Senesi, S
Citation: G. Batoni et al., Effect of removable orthodontic appliances on oral colonisation by mutans streptococci in children, EUR J OR SC, 109(6), 2001, pp. 388-392
Authors:
Di Capua, M
Lispi, ML
Giannotti, A
Longo, D
Fariello, G
Citation: M. Di Capua et al., Neurofibromatosis type 1 presenting with hand dystonia, J CHILD NEU, 16(8), 2001, pp. 606-608
Authors:
Bonamico, M
Mariani, P
Danesi, HM
Crisogianni, M
Failla, T
Gemme, G
Quartino, AR
Giannotti, A
Castro, M
Balli, G
Lecora, M
Andria, G
Guariso, G
Gabrielli, T
Catassi, T
Lazzari, R
Balocco, NA
De Virgiliis, S
Culasso, F
Romano, T
Citation: M. Bonamico et al., Prevalence and clinical picture of celiac disease in Italian Down syndromepatients: A multicenter study, J PED GASTR, 33(2), 2001, pp. 139-143
Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome
Authors:
Giordano, U
Turchetta, A
Giannotti, A
Digilio, MC
Virgilii, F
Calzolari, A
Citation: U. Giordano et al., Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome, PEDIAT CARD, 22(6), 2001, pp. 509-511
Authors:
Digilio, MC
Marino, B
Toscano, A
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Congenital heart defects in Kabuki syndrome, AM J MED G, 100(4), 2001, pp. 269-274
Authors:
Giannotti, A
Tiberio, G
Castro, M
Virgilii, F
Colistro, F
Ferretti, F
Digilio, MC
Gambarara, M
Dallapiccola, B
Citation: A. Giannotti et al., Coeliac disease in Williams syndrome, J MED GENET, 38(11), 2001, pp. 767-768
Authors:
Gigante, M
Matera, MG
Seripa, D
Izzo, AM
Venanzi, R
Giannotti, A
Digilio, MC
Gravina, C
Lazzari, M
Monteleone, G
Monteleone, M
Dallapiccola, B
Fazio, VM
Citation: M. Gigante et al., Ext-mutation analysis in Italian sporadic and hereditary osteochondromas, INT J CANC, 95(6), 2001, pp. 378-383
Authors:
Digilio, MC
Casey, B
Toscano, A
Calabro, R
Pacileo, G
Marasini, M
Banaudi, E
Giannotti, A
Dallapiccola, B
Marino, B
Citation: Mc. Digilio et al., Complete transposition of the great arteries - Patterns of congenital heart disease in familial precurrence, CIRCULATION, 104(23), 2001, pp. 2809-2814
Authors:
Frolich, M
Giannotti, A
Modell, JH
Citation: M. Frolich et al., Opioid overdose in a patient using a fentanyl patch during treatment with a warming blanket, ANESTH ANAL, 93(3), 2001, pp. 647-648
Authors:
Papadatou, B
Ferretti, F
Giannotti, A
Colistro, F
Gambarara, M
Digilio, MC
Castro, M
Citation: B. Papadatou et al., Antigliandin and antiendomysial antibodies in children with Down's syndrome, DIG LIVER D, 32(5), 2000, pp. 453-453
Authors:
Pastore, E
Marino, B
Calzolari, A
Digilio, MC
Giannotti, A
Turchetta, A
Citation: E. Pastore et al., Clinical and cardiorespiratory assessment in children with Down syndrome without congenital heart disease, ARCH PED AD, 154(4), 2000, pp. 408-410
Authors:
Tessa, A
Patrono, C
Santorelli, FM
Giannotti, A
Digilio, MC
Pacifico, C
Presuttari, F
Tieri, L
Citation: A. Tessa et al., Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafness, J MED SCREE, 7(3), 2000, pp. 167-167
Authors:
Tiberio, G
Digilio, MC
Giannotti, A
Citation: G. Tiberio et al., Obesity and WAGR syndrome, CLIN DYSMOR, 9(1), 2000, pp. 63-64
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:
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:
Patrono, C
Rizzo, C
Tessa, A
Giannotti, A
Borrelli, P
Carrozzo, R
Piemonte, F
Bertini, E
Dionisi-Vici, C
Santorelli, FM
Citation: C. Patrono et al., Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome, AM J MED G, 91(2), 2000, pp. 138-140
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:
Tiberio, G
Digilio, MC
Graziani, M
Testa, F
Giannotti, A
Citation: G. Tiberio et al., Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family, J MED GENET, 37(7), 2000, pp. 548-551
Authors:
Calamandrei, G
Alleva, E
Cirulli, F
Queyras, A
Volterra, V
Capirci, O
Vicari, S
Giannotti, A
Turrini, P
Aloe, L
Citation: G. Calamandrei et al., Serum NGF levels in children and adolescents with either Williams syndromeor Down syndrome, DEVELOP MED, 42(11), 2000, pp. 746-750
Authors:
Palka, G
Stuppia, L
Franchi, PG
Chiarelli, F
Fischetto, R
Borrelli, P
Giannotti, A
Fioretti, G
Rinaldi, MM
Mingarelli, R
Rappold, GA
Calabrese, G
Citation: G. Palka et al., Short arm rearrangements of sex chromosomes with haploinsufficiency of theSHOX gene are associated with Leri-Weill dyschondrosteosis, CLIN GENET, 57(6), 2000, pp. 449-453
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