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Results: 1-25 | 26-26
Results: 1-25/26
L'istochimica dei lipidi nella riparazione delle fratture
Authors: Mignogna, A Boccia, L Savoia, A
Citation: A. Mignogna, et al., L'istochimica dei lipidi nella riparazione delle fratture, Archivio di ortopedia , 69(1), 1956, pp. 19-24
Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein
Authors: Kremmidiotis, G Gardner, AE Settasatian, C Savoia, A Sutherland, GR Callen, DF
Citation: G. Kremmidiotis et al., Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein, GENOMICS, 76(1-3), 2001, pp. 58-65
Optimization of dynamically bent crystals for X-ray focusing monochromators
Authors: Artemev, A Artemiev, N Busetto, E Hrdy, J Mrazek, D Savoia, A
Citation: A. Artemev et al., Optimization of dynamically bent crystals for X-ray focusing monochromators, NUCL INST A, 467, 2001, pp. 373-376
Design, construction and tests of a crystal bender which provides constantposition of the central part of the crystal
Authors: Artemev, A Artemiev, N Busetto, E Franc, F Hrdy, J Mrazek, D Savoia, A
Citation: A. Artemev et al., Design, construction and tests of a crystal bender which provides constantposition of the central part of the crystal, NUCL INST A, 467, 2001, pp. 377-379
Thermal and structural finite element analysis of water cooled silicon monochromator for synchrotron radiation: comparison of two different cooling schemes
Authors: Artemev, A Artemiev, N Busetto, E Hrdy, J Mrazek, D Plesek, I Savoia, A
Citation: A. Artemev et al., Thermal and structural finite element analysis of water cooled silicon monochromator for synchrotron radiation: comparison of two different cooling schemes, NUCL INST A, 467, 2001, pp. 380-383
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
Authors: Savoia, A Balduini, CL Savino, M Noris, P Del Vecchio, M Perrotta, S Belletti, S Poggi, V Iolascon, A
Citation: A. Savoia et al., Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome, BLOOD, 97(5), 2001, pp. 1330-1335
Recording of x-ray holograms on a position-sensitive detector
Authors: Kopecky, M Busetto, E Lausi, A Miculin, M Savoia, A
Citation: M. Kopecky et al., Recording of x-ray holograms on a position-sensitive detector, APPL PHYS L, 78(19), 2001, pp. 2985-2987
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
A new case of Acromegaloid Facial Appearance (AFA) syndrome with an expanded phenotype
Authors: Zelante, L Gasparini, P Savoia, A Lomuto, M Pellicano, R
Citation: L. Zelante et al., A new case of Acromegaloid Facial Appearance (AFA) syndrome with an expanded phenotype, CLIN DYSMOR, 9(3), 2000, pp. 221-222
Hereditary thrombocytopenia due to reduced platelet production - Report ontwo families and mutational screening of the thrombopoietin receptor gene (c-mpl)
Authors: Tonelli, R Strippoli, P Grossi, A Savoia, A Iolascon, A Savino, M Teriaca, MS Servedio, V Morfini, M Zelante, L Borgna-Pignatti, C Rosito, P Pession, A Paolucci, G Bagnara, GP
Citation: R. Tonelli et al., Hereditary thrombocytopenia due to reduced platelet production - Report ontwo families and mutational screening of the thrombopoietin receptor gene (c-mpl), THROMB HAEM, 83(6), 2000, pp. 931-936
X-ray fluorescence holography: A different approach to data collection
Authors: Busetto, E Kopecky, M Lausi, A Menk, RH Miculin, M Savoia, A
Citation: E. Busetto et al., X-ray fluorescence holography: A different approach to data collection, PHYS REV B, 62(9), 2000, pp. 5273-5276
Association of complementation group and mutation type with clinical outcome in Fanconi anemia
Authors: Faivre, L Guardiola, P Lewis, C Dokal, I Ebell, W Zatterale, Z Altay, C Poole, J Stones, D Kwee, ML van Weel-Sipman, M Havenga, C Morgan, N de Winter, J Digweed, M Savoia, A Pronk, J de Ravel, T Jansen, S Joenje, H Gluckman, E Mathew, CG
Citation: L. Faivre et al., Association of complementation group and mutation type with clinical outcome in Fanconi anemia, BLOOD, 96(13), 2000, pp. 4064-4070
The gene for May-Hegglin anomaly localizes to a < 1-mb region on chromosome 22q12.3-13.1
Authors: Martignetti, JA Heath, KE Harris, J Bizzaro, N Savoia, A Balduini, CL Desnick, RJ
Citation: Ja. Martignetti et al., The gene for May-Hegglin anomaly localizes to a < 1-mb region on chromosome 22q12.3-13.1, AM J HU GEN, 66(4), 2000, pp. 1449-1454
Fanconi anemia pathway and cancer susceptibility
Authors: Kuang, Y Garcia-Higuera, I Nisbet-Brown, E Savoia, A D'Andrea, AD
Citation: Y. Kuang et al., Fanconi anemia pathway and cancer susceptibility, CANC DRUG, 2000, pp. 351-373
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
Authors: Waisfisz, Q Morgan, NV Savino, M de Winter, JP van Berkel, CGM Hoatlin, ME Ianzano, L Gibson, RA Arwert, F Savoia, A Mathew, CG Pronk, JC Joenje, H
Citation: Q. Waisfisz et al., Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism, NAT GENET, 22(4), 1999, pp. 379-383
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene
Authors: Wijker, M Morgan, NV Herterich, S van Berkel, CGM Tipping, AJ Gross, HJ Gille, JJP Pals, G Savino, M Altay, C Mohan, S Dokal, I Cavenagh, J Marsh, J Van Weel, M Ortega, JJ Schuler, D Samochatova, E Karwacki, M Bekassy, AN Abecasis, M Ebell, W Kwee, ML de Ravel, T Gibson, RA Gluckman, E Arwert, F Joenje, H Savoia, A Hoehn, H Pronk, JC Mathew, CG
Citation: M. Wijker et al., Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene, EUR J HUM G, 7(1), 1999, pp. 52-59
Confirmation of Kapur-Toriello syndrome in an Italian patient
Authors: Zelante, L Candela, MA Savoia, A Gasparini, P
Citation: L. Zelante et al., Confirmation of Kapur-Toriello syndrome in an Italian patient, CLIN DYSMOR, 8(2), 1999, pp. 151-153
Characterization of copine VII, a new member of the copine family, and itsexclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3
Authors: Savino, M d'Apolito, M Centra, M van Beerendonk, HM Cleton-Jansen, AM Whitmore, SA Crawford, J Callen, DF Zelante, L Savoia, A
Citation: M. Savino et al., Characterization of copine VII, a new member of the copine family, and itsexclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3, GENOMICS, 61(2), 1999, pp. 219-226
The PISSLRE gene: Structure, exon skipping, and exclusion as tumor suppressor in breast cancer
Authors: Crawford, J Ianzano, L Savino, M Whitmore, S Cleton-Jansen, AM Settasatian, C d'Apolito, M Seshadri, R Pronk, JC Auerbach, AD Verlander, PC Mathew, CG Tipping, AJ Doggett, NA Zelante, L Callen, DF Savoia, A
Citation: J. Crawford et al., The PISSLRE gene: Structure, exon skipping, and exclusion as tumor suppressor in breast cancer, GENOMICS, 56(1), 1999, pp. 90-97
(TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome
Authors: Iolascon, A Faienza, MF Centra, M Storelli, S Zelante, L Savoia, A
Citation: A. Iolascon et al., (TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome, HAEMATOLOG, 84(2), 1999, pp. 106-109
Familial dominant thrombocytopenia: Clinical, biologic, and molecular studies
Authors: Iolascon, A Perrotta, S Amendola, G Altomare, M Bagnara, GP Del Vecchio, ME Savoia, A
Citation: A. Iolascon et al., Familial dominant thrombocytopenia: Clinical, biologic, and molecular studies, PEDIAT RES, 46(5), 1999, pp. 548-552
The beamlines of ELETTRA and their application to structural biology
Authors: Zanini, F Lausi, A Savoia, A
Citation: F. Zanini et al., The beamlines of ELETTRA and their application to structural biology, GENETICA, 106(1-2), 1999, pp. 171-180
Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals
Authors: Lo Muzio, L Nocini, PF Savoia, A Consolo, U Procaccini, M Zelante, L Pannone, G Bucci, P Dolci, M Bambini, F Solda, P Favia, G
Citation: L. Lo Muzio et al., Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals, CLIN GENET, 55(1), 1999, pp. 34-40
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3
Authors: Cleton-Jansen, AM Moerland, EW Pronk, JC van Berkel, CGM Apostolou, S Crawford, J Savoia, A Auerbach, AD Mathew, CG Callen, DF Cornelisse, CJ
Citation: Am. Cleton-jansen et al., Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3, BR J CANC, 79(7-8), 1999, pp. 1049-1052
Nuclear localization of the Fanconi anemia protein FANCC is required for functional activity
Authors: Savoia, A Garcia-Higuera, I D'Andrea, AD
Citation: A. Savoia et al., Nuclear localization of the Fanconi anemia protein FANCC is required for functional activity, BLOOD, 93(11), 1999, pp. 4025-4026
Risultati: 1-25 | 26-26