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Results: 1-25 | 26-50 | 51-66
Results: 1-25/66
Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments
Authors: Colosimo, A Goncz, KK Novelli, G Dallapiccola, B Gruenert, DC
Citation: A. Colosimo et al., Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments, MOL THER, 3(2), 2001, pp. 178-185
Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome(deletion 22q11.2 syndrome)
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
Anatomic patterns of conotruncal defects associated with deletion 22q11
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
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy
Authors: Semprini, S Tacconelli, A Capon, F Brancati, F Dallapiccola, B Novelli, G
Citation: S. Semprini et al., A single strand conformation polymorphism-based carrier test for spinal muscular atrophy, GENET TEST, 5(1), 2001, pp. 33-37
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26
Authors: Mangino, M Flex, E Capon, F Sangiuolo, F Carraro, E Gualandi, F Mazzoli, M Martini, A Novelli, G Dallapiccola, B
Citation: M. Mangino et al., Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26, EUR J HUM G, 9(9), 2001, pp. 667-671
Expression of Delta F508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR
Authors: Goncz, KK Colosimo, A Dallapiccola, B Gagne, L Hong, K Novelli, G Papahadjopoulos, D Sawa, T Schreier, H Wiener-Kronish, J Xu, Z Gruenert, DC
Citation: Kk. Goncz et al., Expression of Delta F508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR, GENE THER, 8(12), 2001, pp. 961-965
Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit
Authors: Berti, L Mittler, G Przemeck, GKH Stelzer, G Gunzler, B Amati, F Conti, E Dallapiccola, B de Angelis, MH Novelli, G Meisterernst, M
Citation: L. Berti et al., Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit, GENOMICS, 74(3), 2001, pp. 320-332
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)
Authors: Botta, A Tandoi, C Fini, G Calabrese, G Dallapiccola, B Novelli, G
Citation: A. Botta et al., Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L), GENE, 275(1), 2001, pp. 39-46
Cloning and molecular characterization of three Ubiquitin Fusion Degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster
Authors: Ratti, A Amati, F Bozzali, M Conti, E Sangiuolo, F Berloco, M Palumbo, G Botta, A Pizzuti, A Novelli, G Dallapiccola, B
Citation: A. Ratti et al., Cloning and molecular characterization of three Ubiquitin Fusion Degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster, CYTOG C GEN, 92(3-4), 2001, pp. 279-282
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia
Authors: Castriota-Scanderbeg, A Dallapiccola, B Mingarelli, R Kozlowski, K
Citation: A. Castriota-scanderbeg et al., Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia, AM J MED G, 99(4), 2001, pp. 289-293
Exclusion of the elastin gene in the pathogenesis of Costello syndrome
Authors: Tandoi, C Botta, A Fini, G Sangiuolo, F Novelli, G Ricci, R Zampino, G Anichini, C Dallapiccola, B
Citation: C. Tandoi et al., Exclusion of the elastin gene in the pathogenesis of Costello syndrome, AM J MED G, 98(3), 2001, pp. 286-287
Association study of a promoter polymorphism of UFD1L gene with schizophrenia
Authors: De Luca, A Pasini, A Amati, F Botta, A Spalletta, G Alimenti, S Caccamo, F Conti, E Trakalo, J Macciardi, F Dallapiccola, B Novelli, G
Citation: A. De Luca et al., Association study of a promoter polymorphism of UFD1L gene with schizophrenia, AM J MED G, 105(6), 2001, pp. 529-533
Congenital heart defects in Kabuki syndrome
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
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Authors: Gong, YQ Slee, RB Fukai, N Rawadi, G Roman-Roman, S Reginato, AM Wang, HW Cundy, T Glorieux, FH Lev, D Zacharin, M Oexle, K Marcelino, J Suwairi, W Heeger, S Sabatakos, G Apte, S Adkins, WN Allgrove, J Arslan-Kirchner, M Batch, JA Beighton, P Black, GCM Boles, RG Boon, LM Borrone, C Brunner, HG Carle, GF Dallapiccola, B De Paepe, A Floege, B Halfhide, ML Hall, B Hennekam, RC Hirose, T Jans, A Juppner, H Kim, CA Keppler-Noreuil, K Kohlschuetter, A LaCombe, D Lambert, M Lemyre, E Letteboer, T Peltonen, L Ramesar, RS Romanengo, M Somer, H Steichen-Gersdorf, E Steinmann, B Sullivan, B Superti-Furga, A Swoboda, W van den Boogaard, MJ Van Hul, V Vikkula, M Votruba, M Zabel, B Garcia, T Baron, R Olsen, BR Warman, ML
Citation: Yq. Gong et al., LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development, CELL, 107(4), 2001, pp. 513-523
Single primer pair for PCR identification of Candida parapsilosis group I isolates
Authors: Pontieri, E Caracciolo, C Bianchini, S D'Antonio, D Novelli, G Dallapiccola, B Carruba, G
Citation: E. Pontieri et al., Single primer pair for PCR identification of Candida parapsilosis group I isolates, J MED MICRO, 50(5), 2001, pp. 441-448
Coeliac disease in Williams syndrome
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
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21
Authors: Capon, F Semprini, S Chimenti, S Fabrizi, G Zambruno, G Murgia, S Carcassi, C Fazio, M Mingarelli, R Dallapiccola, B Novelli, G
Citation: F. Capon et al., Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21, J INVES DER, 116(5), 2001, pp. 728-730
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas
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
Complete transposition of the great arteries - Patterns of congenital heart disease in familial precurrence
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
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome
Authors: Novelli, G Amati, F Dallapiccola, B
Citation: G. Novelli et al., Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome, MOL MED TOD, 6(1), 2000, pp. 10-11
Advances in the search for psoriasis susceptibility genes
Authors: Capon, F Dallapiccola, B Novelli, G
Citation: F. Capon et al., Advances in the search for psoriasis susceptibility genes, MOL GEN MET, 71(1-2), 2000, pp. 250-255
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Authors: Ruiz-Perez, VL Ide, SE Strom, TM Lorenz, B Wilson, D Woods, K King, L Francomano, C Freisinger, P Spranger, S Marino, B Dallapiccola, B Wright, M Meitinger, T Polymeropoulos, MH Goodship, J
Citation: Vl. Ruiz-perez et al., Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis, NAT GENET, 24(3), 2000, pp. 283-286
Deficiency of the infundibular septum in patients with Interrupted aortic arch and del 22q11
Authors: Marino, B Digilio, MC Toscano, A Dallapiccola, B
Citation: B. Marino et al., Deficiency of the infundibular septum in patients with Interrupted aortic arch and del 22q11, CARD YOUNG, 10(4), 2000, pp. 428-429
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3
Authors: Sangiuolo, F Bruscia, E Capon, F Servidei, S Dallapiccola, B Novelli, G
Citation: F. Sangiuolo et al., Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3, EUR J HUM G, 8(10), 2000, pp. 809-812
Having a baby: a 'gift from God', or a custom-made purchase?
Authors: Benagiano, G Pera, A Dallapiccola, B
Citation: G. Benagiano et al., Having a baby: a 'gift from God', or a custom-made purchase?, GYNECOL END, 14(3), 2000, pp. 214-219
Risultati: 1-25 | 26-50 | 51-66