AAAAAA
Results: 26-41/41
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:
Nanni, L
Ming, JE
Bocian, M
Steinhaus, K
Bianchi, DW
de Die-Smulders, C
Giannotti, A
Imaizumi, K
Jones, KL
Del Campo, M
Martin, RA
Meinecke, P
Pierpont, MEM
Robin, NH
Young, ID
Roessler, E
Muenke, M
Citation: L. Nanni et al., The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly, HUM MOL GEN, 8(13), 1999, pp. 2479-2488
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:
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:
Giannotti, A
Citation: A. Giannotti, Details and additional information on the "Flemish" sculptor Willem Tetrode, PROSPETTIVA, (95-96), 1999, pp. 173-181
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:
Digilio, MC
Marino, B
Toscano, A
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Atrioventricular canal defect without Down syndrome: A heterogeneous malformation, AM J MED G, 85(2), 1999, pp. 140-146
Authors:
Digilio, MC
Marino, B
Bevilacqua, M
Musolino, AM
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium, AM J MED G, 85(1), 1999, pp. 90-91
Authors:
Digilio, MC
Marino, B
Ammirati, A
Borzaga, U
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia, AM J MED G, 84(4), 1999, pp. 350-356
Authors:
Digilio, MC
Marino, B
Giannico, S
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins, TERATOLOGY, 60(4), 1999, pp. 206-208
Authors:
Marino, B
Digilio, MC
Toscano, A
Giannotti, A
Dallapiccola, B
Citation: B. Marino et al., Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal, J PEDIAT, 135(6), 1999, pp. 703-706
Authors:
Stuppia, L
Calabrese, G
Borrelli, P
Gatta, V
Morizio, E
Mingarelli, R
Di Gilio, MC
Crino, A
Giannotti, A
Rappold, GA
Palka, G
Citation: L. Stuppia et al., Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male, J MED GENET, 36(9), 1999, pp. 711-713
Authors:
Botta, A
Novelli, G
Mari, A
Novelli, A
Sabani, M
Korenberg, J
Osborne, LR
Digilio, MC
Giannotti, A
Dallapiccola, B
Citation: A. Botta et al., Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes, J MED GENET, 36(6), 1999, pp. 478-480
Authors:
Digilio, MC
Marino, B
Bagolan, P
Giannotti, A
Dallapiccola, B
Citation: Mc. Digilio et al., Microdeletion 22q11 and oesophageal atresia, J MED GENET, 36(2), 1999, pp. 137-139
Authors:
Marino, B
Digilio, MC
Persiani, M
Di Donto, R
Toscano, A
Giannotti, A
Dallapiccola, B
Citation: B. Marino et al., Deletion 22q11 in patients with interrupted aortic arch, AM J CARD, 84(3), 1999, pp. 360
Authors:
Battaglia, A
Carey, JC
Giannotti, A
Citation: A. Battaglia et al., Associazione Italiana Sulla Sindrome Di Wolf Hirschhorn, RIV ITAL P, 24(5), 1998, pp. 905-905