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Results: 1-18 |
Results: 18
Exclusion of candidate genes and chromosomal regions in familial neuroblastoma
Authors: Tonini, GP McConville, C Cusano, R Rees, SA Dagnino, M Longo, L De Bernardi, B Conte, M Garaventa, A Romeo, G Devoto, M Seri, M
Citation: Gp. Tonini et al., Exclusion of candidate genes and chromosomal regions in familial neuroblastoma, INT J MOL M, 7(1), 2001, pp. 85-89
Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR
Authors: Regis, S Filocamo, M Mazzotti, R Cusano, R Corsolini, F Bonuccelli, G Stroppiano, M Gatti, R
Citation: S. Regis et al., Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR, PRENAT DIAG, 21(8), 2001, pp. 668-671
Fontaine-Farriaux craniosynostosis: Second report in the literature
Authors: Priolo, M De Toni, T Baffico, M Cama, A Seri, M Cusano, R Costabello, L Fondelli, P Capra, V Silengo, M Ravazzolo, R Lerone, M
Citation: M. Priolo et al., Fontaine-Farriaux craniosynostosis: Second report in the literature, AM J MED G, 100(3), 2001, pp. 214-218
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease
Authors: Bertolini, S Pisciotta, L Seri, M Cusano, R Cantafora, A Calabresi, L Franceschini, G Ravazzolo, R Calandra, S
Citation: S. Bertolini et al., A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease, ATHEROSCLER, 154(3), 2001, pp. 599-605
Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction
Authors: De Giorgio, R Seri, M Cogliandro, RF Cusano, R Fava, M Caroli, F Panetta, D Forabosco, P Barbara, G Ravazzolo, R Ceccherini, R Corinaldesi, R Stanghellini, V
Citation: R. De Giorgio et al., Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction, CLIN GENET, 59(2), 2001, pp. 131-133
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
Authors: Seri, M Cusano, R Gangarossa, S Caridi, G Bordo, D Lo Nigro, C Ghiggeri, GM Ravazzolo, R Savino, M Del Vecchio, M d'Apolito, M Iolascon, A Zelante, LL Savoia, A Balduini, CL Noris, P Magrini, U Belletti, S
Citation: M. Seri et al., Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes, NAT GENET, 26(1), 2000, pp. 103-105
Preserved speech variant is allelic of classic Rett syndrome
Authors: De Bona, C Zappella, M Hayek, G Meloni, I Vitelli, F Bruttini, M Cusano, R Loffredo, P Longo, I Renieri, A
Citation: C. De Bona et al., Preserved speech variant is allelic of classic Rett syndrome, EUR J HUM G, 8(5), 2000, pp. 325-330
Localisation of the gene responsible for Fechtner syndrome in a region < 600 Kb on 22q11-q13
Authors: Cusano, R Gangarossa, S Forabosco, P Caridi, G Ghiggeri, GM Russo, G Iolascon, A Ravazzolo, R Seri, M
Citation: R. Cusano et al., Localisation of the gene responsible for Fechtner syndrome in a region < 600 Kb on 22q11-q13, EUR J HUM G, 8(11), 2000, pp. 895-899
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2
Authors: Lo Nigro, C Cusano, R Scaranari, M Cinti, R Forabosco, P Morra, VB De Michele, G Santoro, L Davies, S Hurst, J Devoto, M Ravazzolo, R Seri, M
Citation: C. Lo Nigro et al., A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2, EUR J HUM G, 8(10), 2000, pp. 777-782
Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR
Authors: Patrone, G Puppo, F Cusano, R Scaranari, M Ceccherini, I Puliti, A Ravazzolo, R
Citation: G. Patrone et al., Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR, BIOTECHNIQU, 29(5), 2000, pp. 1012
Identification of LMX1B gene point mutations in Italian patients affected with Nail-Patella syndrome
Authors: Seri, M Melchionda, S Dreyer, S Marini, M Carella, M Cusano, R Piemontese, MR Caroli, F Silengo, M Zelante, L Romeo, G Ravazzolo, R Gasparini, P Lee, B
Citation: M. Seri et al., Identification of LMX1B gene point mutations in Italian patients affected with Nail-Patella syndrome, INT J MOL M, 4(3), 1999, pp. 285-290
Detection of DNA polymorphisms and point mutations of high-affinity nerve growth factor receptor (TrkA) in human neuroblastoma
Authors: Scaruffi, P Cusano, R Dagnino, M Tonini, GP
Citation: P. Scaruffi et al., Detection of DNA polymorphisms and point mutations of high-affinity nerve growth factor receptor (TrkA) in human neuroblastoma, INT J ONCOL, 14(5), 1999, pp. 935-938
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
Authors: Wallgren-Pettersson, C Pelin, K Hilpela, P Donner, K Porfirio, B Graziano, C Swoboda, KJ Fardeau, M Urtizberea, JA Muntoni, F Sewry, C Dubowitz, V Iannaccone, S Minetti, C Pedemonte, M Seri, M Cusano, R Lammens, M Castagna-Sloane, A Beggs, AH Laing, NG de la Chapelle, A
Citation: C. Wallgren-pettersson et al., Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy, NEUROMUSC D, 9(8), 1999, pp. 564-572
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndromeand anorectal malformations with sacral hypodevelopment
Authors: Seri, M Martucciello, G Paleari, L Bolino, A Priolo, M Salemi, G Forabosco, P Caroli, F Cusano, R Tocco, T Lerone, M Cama, A Torre, M Guys, JM Romeo, G Jasonni, V
Citation: M. Seri et al., Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndromeand anorectal malformations with sacral hypodevelopment, HUM GENET, 104(1), 1999, pp. 108-110
Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions
Authors: Fimiani, M Seri, M Rubegni, P Cusano, R De Aloe, G Forabosco, P Devoto, M Andreassi, L Renieri, A
Citation: M. Fimiani et al., Autosomal dominant aplasia cutis congenita: report of a large Italian family and no hint for candidate chromosomal regions, ARCH DERM R, 291(12), 1999, pp. 637-642
Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development
Authors: Lo Cunsolo, C Iolascon, A Cavazzana, A Cusano, R Strigini, P Mazzocco, K Giordani, L Massimo, L De Bernardi, B Conte, M Tonini, GP
Citation: C. Lo Cunsolo et al., Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development, CANC GENET, 109(2), 1999, pp. 126-130
Congenital hypoplastic anaemia in a patient with a new multiple congenitalanomalies-mental retardation syndrome
Authors: Mori, PG Priolo, M Lerone, M Caroli, F Cusano, R Seri, M Silengo, MC
Citation: Pg. Mori et al., Congenital hypoplastic anaemia in a patient with a new multiple congenitalanomalies-mental retardation syndrome, AM J MED G, 87(1), 1999, pp. 36-39
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
Authors: Seri, M Cusano, R Forabosco, P Cinti, R Caroli, F Picco, P Bini, R Morra, VB De Michele, G Lerone, M Silengo, M Pela, I Borrone, C Romeo, G Devoto, M
Citation: M. Seri et al., Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy, AM J HU GEN, 64(2), 1999, pp. 586-593
Risultati: 1-18 |