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Annalisa Frattini
Annalisa Frattini
IRGB - CNR
Geverifieerd e-mailadres voor irgb.cnr.it
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Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
P Macchi, A Villa, S Giliani, MG Sacco, A Frattini, F Porta, AG Ugazio, ...
Nature 377 (6544), 65-68, 1995
10501995
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
A Frattini, PJ Orchard, C Sobacchi, S Giliani, M Abinun, JP Mattsson, ...
Nature genetics 25 (3), 343-346, 2000
8292000
Partial V (D) J recombination activity leads to Omenn syndrome
A Villa, S Santagata, F Bozzi, S Giliani, A Frattini, L Imberti, LB Gatta, ...
Cell 93 (5), 885-896, 1998
5121998
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
C Sobacchi, A Frattini, MM Guerrini, M Abinun, A Pangrazio, L Susani, ...
Nature genetics 39 (8), 960-962, 2007
4662007
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
MM Guerrini, C Sobacchi, B Cassani, M Abinun, SS Kilic, A Pangrazio, ...
The American journal of human genetics 83 (1), 64-76, 2008
3472008
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
N Chalhoub, N Benachenhou, V Rajapurohitam, M Pata, M Ferron, ...
Nature medicine 9 (4), 399-406, 2003
3192003
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis
A Frattini, A Pangrazio, L Susani, C Sobacchi, M Mirolo, M Abinun, ...
Journal of bone and mineral research 18 (10), 1740-1747, 2003
2782003
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi, A Frattini, P Orchard, O Porras, I Tezcan, M Andolina, ...
Human molecular genetics 10 (17), 1767-1773, 2001
2702001
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans
L Van Wesenbeeck, PR Odgren, FP Coxon, A Frattini, P Moens, B Perdu, ...
The Journal of clinical investigation 117 (4), 919-930, 2007
2422007
Impaired gastric acidification negatively affects calcium homeostasis and bone mass
T Schinke, AF Schilling, A Baranowsky, S Seitz, RP Marshall, T Linn, ...
Nature medicine 15 (6), 674-681, 2009
2282009
Molecular Cloning of ILP-2, a Novel Member of the Inhibitor of Apoptosis Protein Family
BWM Richter, SS Mir, LJ Eiben, J Lewis, SB Reffey, A Frattini, L Tian, ...
Molecular and cellular biology 21 (13), 4292-4301, 2001
1602001
Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement
A Pangrazio, PL Poliani, A Megarbane, G Lefranc, E Lanino, M Di Rocco, ...
Journal of Bone and Mineral Research 21 (7), 1098-1105, 2006
1372006
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
E Revenkova, ML Focarelli, L Susani, M Paulis, MT Bassi, L Mannini, ...
Human molecular genetics 18 (3), 418-427, 2009
1282009
TCIRG1‐dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA
L Susani, A Pangrazio, C Sobacchi, A Taranta, G Mortier, R Savarirayan, ...
Human mutation 24 (3), 225-235, 2004
1282004
High variability of genomic instability and gene expression profiling in different HeLa clones
A Frattini, M Fabbri, R Valli, E De Paoli, G Montalbano, L Gribaldo, ...
Scientific reports 5 (1), 1-9, 2015
1262015
In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis …
C Panaroni, R Gioia, A Lupi, R Besio, SA Goldstein, J Kreider, S Leikin, ...
Blood, The Journal of the American Society of Hematology 114 (2), 459-468, 2009
1112009
Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone
AN Smith, S Bord, KJ Borthwick, RS Al-Lamki, CA Wagner, DC Ireland, ...
Journal of the American society of nephrology 16 (5), 1245-1256, 2005
1042005
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.
A Villa, LD Notarangelo, JP Di Santo, PP Macchi, D Strina, A Frattini, ...
Proceedings of the National Academy of Sciences 91 (6), 2110-2114, 1994
1031994
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
E Maestrini, C Patrosso, M Mancini, S Rivella, M Rocchi, M Repetto, ...
Human molecular genetics 2 (6), 761-766, 1993
1021993
Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations
A Pangrazio, M Pusch, E Caldana, A Frattini, E Lanino, PM Tamhankar, ...
Human mutation 31 (1), E1071-E1080, 2010
1002010
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Artikelen 1–20