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Results: 1-25 | 26-26
Results: 1-25/26
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
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis
Authors: Caridi, G Bertelli, R Carrea, A Di Duca, M Catarsi, P Artero, M Carraro, M Zennaro, C Candiano, G Musante, L Seri, M Ginevri, F Perfumo, F Ghiggeri, GM
Citation: G. Caridi et al., Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis, J AM S NEPH, 12(12), 2001, pp. 2742-2746
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
Characterization of the response to myelin basic protein in a non human primate model for multiple sclerosis
Authors: Uccelli, A Giunti, D Mancardi, G Caroli, F Fiorone, M Seri, M Hauser, SL Genain, CP
Citation: A. Uccelli et al., Characterization of the response to myelin basic protein in a non human primate model for multiple sclerosis, EUR J IMMUN, 31(2), 2001, pp. 474-479
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
Dynamics of the reactivity to MBP in multiple sclerosis
Authors: Uccelli, A Ristori, G Giunti, D Seri, M Montesperelli, C Caroli, F Solaro, C Murialdo, A Marchese, M Buttinelli, C Mancardi, G Salvetti, M
Citation: A. Uccelli et al., Dynamics of the reactivity to MBP in multiple sclerosis, J NEUROVIRO, 6, 2000, pp. S52-S56
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
Total anonychia congenita in a woman with normal intelligence: Report of afurther case
Authors: Priolo, M Rosaia, L Seri, M Silengo, MC Ravazzolo, R Lerone, M
Citation: M. Priolo et al., Total anonychia congenita in a woman with normal intelligence: Report of afurther case, DERMATOLOGY, 200(1), 2000, pp. 84-85
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
New clinical findings in oculo-ectodermal syndrome
Authors: Silengo, M Lerone, M Seri, M Priolo, M Jarre, L
Citation: M. Silengo et al., New clinical findings in oculo-ectodermal syndrome, CLIN DYSMOR, 9(1), 2000, pp. 39-41
Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
Authors: Sumegi, J Huang, DL Lanyi, A Davis, JD Seemayer, TA Maeda, A Klein, G Seri, M Wakiguchi, H Purtilo, DT Gross, TG
Citation: J. Sumegi et al., Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease, BLOOD, 96(9), 2000, pp. 3118-3125
Involvement of the HLXB9 homeobox gene in Currarino syndrome
Authors: Belloni, E Martucciello, G Verderio, D Ponti, E Seri, M Jasonni, V Torre, M Ferrari, M Tsui, LC Scherer, SW
Citation: E. Belloni et al., Involvement of the HLXB9 homeobox gene in Currarino syndrome, AM J HU GEN, 66(1), 2000, pp. 312-319
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
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
KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs
Authors: Piccini, M Vitelli, F Seri, M Galietta, LJV Moran, O Bulfone, A Banfi, S Pober, B Renieri, A
Citation: M. Piccini et al., KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs, GENOMICS, 60(3), 1999, pp. 251-257
Characterization of a murine gene homologous to the bovine CaCC chloride channel
Authors: Romio, L Musante, L Cinti, R Seri, M Moran, O Zegarra-Moran, O Galietta, LJV
Citation: L. Romio et al., Characterization of a murine gene homologous to the bovine CaCC chloride channel, GENE, 228(1-2), 1999, pp. 181-188
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients
Authors: Yin, L Ferrand, V Lavoue, MF Hayoz, D Philippe, N Souillet, G Seri, M Giacchino, R Castagnola, E Hodgson, S Sylla, BS Romeo, G
Citation: L. Yin et al., SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients, HUM GENET, 105(5), 1999, pp. 501-505
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
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
Reply to the letter by De Smet and Fryns. Symbrachydactyly involving both the hand and foot
Authors: Silengo, M Lerone, M Seri, M Boffi, P
Citation: M. Silengo et al., Reply to the letter by De Smet and Fryns. Symbrachydactyly involving both the hand and foot, CLIN GENET, 56(2), 1999, pp. 176-177
Lower extremity counterpart of the Poland syndrome
Authors: Silengo, M Lerone, M Seri, M Boffi, P
Citation: M. Silengo et al., Lower extremity counterpart of the Poland syndrome, CLIN GENET, 55(1), 1999, pp. 41-43
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: 1-25 | 26-26