Sfoglia per Titolo
X chromosome gene dosage compensation in female mammals
1993-01-01 Borsani, G.; Ballabio, A.
X linked susceptibility to Mycobapteria is caused by mutation in NEMO impairing CD40-dependent IL-12production.
2006-01-01 Santos, Of; Bustamante, J; Haverkamp, M; Vinolo, E; Ku, Cl; Puel, A; Frucht, D; Christel, K; VON BERNUTH, H; Jouanguy, E; Feinberg, J; Durandy, A; Senechal, B; Chapgier, A; Vogt, G; DE BEAUCODREY, L; Fieschi, C; Picard, C; Garfa, M; Chemli, J; Bejaoui, M; Tsolia, Mn; Kutukculer, N; Plebani, Alessandro; Notarangelo, L; Bodemer, C; Geissmann, F; Israel, A; Veron, M; Knackstedt, M; Barbouche, R; Abel, L; Magdorf, K; Gendrel, D; Agou, F; Holland, Sm; Casanova, Jl
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
2002-01-01 Tommasini, A; S., Ferrari; D., Moratto; Badolato, Raffaele; M., Boniotto; D., Pirulli; L. D. NOTARANGELO AND M., Andolina
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase in patients with X-linked agammaglobulinemia.
2000-01-01 Moschese, V; Orlandi, P; Plebani, Alessandro; Arvanitidis, K; Fiorini, M; Speletas, M; MELLA P., RITIS K; Sideras, P; Rossi, P.
X-chromosome polymorphism on DXS8378, DXS7132, HPRTB and DXS7423 loci in 130 individuals from Brescia (northern Italy)
2007-01-01 Verzeletti, Andrea; N., Cerri; F., Gasparini; DE FERRARI, Francesco
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world
2019-01-01 El-Sayed, Z. A.; Abramova, I.; Aldave, J. C.; Al-Herz, W.; Bezrodnik, L.; Boukari, R.; Bousfiha, A. A.; Cancrini, C.; Condino-Neto, A.; Dbaibo, G.; Derfalvi, B.; Dogu, F.; Edgar, J. D. M.; Eley, B.; El-Owaidy, R. H.; Espinosa-Padilla, S. E.; Galal, N.; Haerynck, F.; Hanna-Wakim, R.; Hossny, E.; Ikinciogullari, A.; Kamal, E.; Kanegane, H.; Kechout, N.; Lau, Y. L.; Morio, T.; Moschese, V.; Neves, J. F.; Ouederni, M.; Paganelli, R.; Paris, K.; Pignata, C.; Plebani, A.; Qamar, F. N.; Qureshi, S.; Radhakrishnan, N.; Rezaei, N.; Rosario, N.; Routes, J.; Sanchez, B.; Sediva, A.; Seppanen, M. R.; Serrano, E. G.; Shcherbina, A.; Singh, S.; Siniah, S.; Spadaro, G.; Tang, M.; Vinet, A. M.; Volokha, A.; Sullivan, K. E.
X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty.
1994-01-01 Buzi, F.; Notarangelo, Luigi Daniele; Plebani, Alessandro; Duse, Marzia; Parolini, O.; Monteleone, M.; Ugazio, Alberto Giovanni
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene
1996-01-01 Renieri, A; Bruttini, M; Galli, L; Zanelli, P; Neri, T; Rossetti, S; Turco, A; Heiskari, N; Zhou, J; Gusmano, R; Massella, L; Banfi, G; Scolari, Francesco; Sessa, A; Rizzoni, G; Tryggvason, K; Pignatti, Pf; Savi, M; Ballabio, A; De Marchi, M.
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats
1999-01-01 Bassi, Mt; Ramesar, Rs; Caciotti, B; Winship, Im; DE GRANDI, A; Riboni, M; Townes, Pl; Beighton, P; Ballabio, A; Borsani, Giuseppe
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and novel gene containing WD-40 repeats
1999-01-01 Bassi, M. T.; Ramesar, R. S.; Caciotti, B.; Winship, I. M.; De Grandi, A.; Riboni, M.; Townes, P. L.; Beighton, P.; Ballabio, A.; Borsani, G.
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
2011-01-01 Booth, C; Gilmour, Kc; Veys, P; Gennery, Ar; Slatter, Ma; Chapel, H; Heath, Pt; Steward, Cg; Smith, O; O'Meara, A; Kerrigan, H; Mahlaoui, N; Cavazzana Calvo, M; Fischer, A; Moshous, D; Blanche, S; Pachlopnick Schmid, J; Latour, S; de Saint Basile, G; Albert, M; Notheis, G; Rieber, N; Strahm, B; Ritterbusch, H; Lankester, A; Hartwig, Ng; Meyts, I; Plebani, Alessandro; Soresina, A; Finocchi, A; Pignata, C; Cirillo, E; Bonanomi, S; Peters, C; Kalwak, K; Pasic, S; Sedlacek, P; Jazbec, J; Kanegane, H; Nichols, Ke; Hanson, Ic; Kapoor, N; Haddad, E; Cowan, M; Choo, S; Smart, J; Arkwright, Pd; Gaspar, Hb
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
2000-01-01 Parolini, Silvia; Bottino, C; Falco, M; Augugliaro, R; Giliani, Silvia Clara; Franceschini, R; Ochs, Hd; Wolf, H; Bonnefoy, Jy; Biassoni, R; Moretta, L; Notarangelo, Luigi Daniele; Moretta, A.
X-linked lymphoproliferative disease: the dark side of 2B4 function.
2001-01-01 Bottino, C; Parolini, Silvia; Biassoni, R; Falco, M; Notarangelo, Ld; Moretta, A.
X-linked mental retardation with Marfanoid habitus. First report of four italian patients.
1991-01-01 Lalatta, F.; Livini, E.; Selicorni, A.; Briscoli, V.; Vita, Antonio
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
2021-01-01 Asano, T.; Boisson, B.; Onodi, F.; Matuozzo, D.; Moncada-Velez, M.; Renkilaraj, M. R. L. M.; Zhang, P.; Meertens, L.; Bolze, A.; Materna, M.; Korniotis, S.; Gervais, A.; Talouarn, E.; Bigio, B.; Seeleuthner, Y.; Bilguvar, K.; Zhang, Y.; Neehus, A. -L.; Ogishi, M.; Pelham, S. J.; Le Voyer, T.; Rosain, J.; Philippot, Q.; Soler-Palacin, P.; Colobran, R.; Martin-Nalda, A.; Riviere, J. G.; Tandjaoui-Lambiotte, Y.; Chaibi, K.; Shahrooei, M.; Darazam, I. A.; Olyaei, N. A.; Mansouri, D.; Hatipoglu, N.; Palabiyik, F.; Ozcelik, T.; Novelli, G.; Novelli, A.; Casari, G.; Aiuti, A.; Carrera, P.; Bondesan, S.; Barzaghi, F.; Rovere-Querini, P.; Tresoldi, C.; Franco, J. L.; Rojas, J.; Reyes, L. F.; Bustos, I. G.; Arias, A. A.; Morelle, G.; Kyheng, C.; Troya, J.; Planas-Serra, L.; Schluter, A.; Gut, M.; Pujol, A.; Allende, L. M.; Rodriguez-Gallego, C.; Flores, C.; Cabrera-Marante, O.; Pleguezuelo, D. E.; Diego, R. P. D.; Keles, S.; Aytekin, G.; Akcan, O. M.; Bryceson, Y. T.; Bergman, P.; Brodin, P.; Smole, D.; Smith, C. I. E.; Norlin, A. -C.; Campbell, T. M.; Covill, L. E.; Hammarstrom, L.; Pan-Hammarstrom, Q.; Abolhassani, H.; Mane, S.; Marr, N.; Ata, M.; Ali, F. A.; Khan, T.; Spaan, A. N.; Dalgard, C. L.; Bonfanti, P.; Biondi, A.; Tubiana, S.; Burdet, C.; Nussbaum, R.; Kahn-Kirby, A.; Snow, A. L.; Bustamante, J.; Puel, A.; Boisson-Dupuis, S.; Zhang, S. -Y.; Beziat, V.; Lifton, R. P.; Bastard, P.; Notarangelo, L. D.; Abel, L.; Su, H. C.; Jouanguy, E.; Amara, A.; Soumelis, V.; Cobat, A.; Zhang, Q.; Casanova, J. -L.; Imberti, L.; Sottini, A.; Quaresima, V.; Quiros-Roldan, E.
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature
2013-01-01 Pezzani, Lidia; Brena, M.; Callea, M.; Colombi, Marina; Tadini, G.
X-ray and neutron diffraction study of the layered compound CoGaInS4
1991-01-01 Depero, Laura Eleonora
X-ray computed µ-tomography for the characterization of optical fibers
2022-01-01 Ferraro, M.; Crocco, M. C.; Mangini, F.; Jonard, M.; Sangiovanni, F.; Zitelli, M.; Filosa, R.; Beltrano, J. J.; Luca, A. D. E.; Barberi, R. C.; Agostino, R. G.; Couderc, V.; Wabnitz, S.; Formoso, V.
X-ray diffraction analysis of the polymorphic behaviour of nimesulide loaded into crospovidone
2001-01-01 Bergese, Paolo; Bontempi, Elza; Colombo, I; Gervasoni, D; Depero, Laura Eleonora
X-ray diffraction and modelling studies of multilayer SnO2 thin film gas sensors
1996-01-01 Depero, Laura Eleonora; Perego, C.; Sangaletti, L.; Sberveglieri, Giorgio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| X chromosome gene dosage compensation in female mammals | 1-gen-1993 | Borsani, G.; Ballabio, A. | |
| X linked susceptibility to Mycobapteria is caused by mutation in NEMO impairing CD40-dependent IL-12production. | 1-gen-2006 | Santos, Of; Bustamante, J; Haverkamp, M; Vinolo, E; Ku, Cl; Puel, A; Frucht, D; Christel, K; VON BERNUTH, H; Jouanguy, E; Feinberg, J; Durandy, A; Senechal, B; Chapgier, A; Vogt, G; DE BEAUCODREY, L; Fieschi, C; Picard, C; Garfa, M; Chemli, J; Bejaoui, M; Tsolia, Mn; Kutukculer, N; Plebani, Alessandro; Notarangelo, L; Bodemer, C; Geissmann, F; Israel, A; Veron, M; Knackstedt, M; Barbouche, R; Abel, L; Magdorf, K; Gendrel, D; Agou, F; Holland, Sm; Casanova, Jl | |
| X-chromosome inactivation analysis in a female carrier of FOXP3 mutation | 1-gen-2002 | Tommasini, A; S., Ferrari; D., Moratto; Badolato, Raffaele; M., Boniotto; D., Pirulli; L. D. NOTARANGELO AND M., Andolina | |
| X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase in patients with X-linked agammaglobulinemia. | 1-gen-2000 | Moschese, V; Orlandi, P; Plebani, Alessandro; Arvanitidis, K; Fiorini, M; Speletas, M; MELLA P., RITIS K; Sideras, P; Rossi, P. | |
| X-chromosome polymorphism on DXS8378, DXS7132, HPRTB and DXS7423 loci in 130 individuals from Brescia (northern Italy) | 1-gen-2007 | Verzeletti, Andrea; N., Cerri; F., Gasparini; DE FERRARI, Francesco | |
| X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world | 1-gen-2019 | El-Sayed, Z. A.; Abramova, I.; Aldave, J. C.; Al-Herz, W.; Bezrodnik, L.; Boukari, R.; Bousfiha, A. A.; Cancrini, C.; Condino-Neto, A.; Dbaibo, G.; Derfalvi, B.; Dogu, F.; Edgar, J. D. M.; Eley, B.; El-Owaidy, R. H.; Espinosa-Padilla, S. E.; Galal, N.; Haerynck, F.; Hanna-Wakim, R.; Hossny, E.; Ikinciogullari, A.; Kamal, E.; Kanegane, H.; Kechout, N.; Lau, Y. L.; Morio, T.; Moschese, V.; Neves, J. F.; Ouederni, M.; Paganelli, R.; Paris, K.; Pignata, C.; Plebani, A.; Qamar, F. N.; Qureshi, S.; Radhakrishnan, N.; Rezaei, N.; Rosario, N.; Routes, J.; Sanchez, B.; Sediva, A.; Seppanen, M. R.; Serrano, E. G.; Shcherbina, A.; Singh, S.; Siniah, S.; Spadaro, G.; Tang, M.; Vinet, A. M.; Volokha, A.; Sullivan, K. E. | |
| X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty. | 1-gen-1994 | Buzi, F.; Notarangelo, Luigi Daniele; Plebani, Alessandro; Duse, Marzia; Parolini, O.; Monteleone, M.; Ugazio, Alberto Giovanni | |
| X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene | 1-gen-1996 | Renieri, A; Bruttini, M; Galli, L; Zanelli, P; Neri, T; Rossetti, S; Turco, A; Heiskari, N; Zhou, J; Gusmano, R; Massella, L; Banfi, G; Scolari, Francesco; Sessa, A; Rizzoni, G; Tryggvason, K; Pignatti, Pf; Savi, M; Ballabio, A; De Marchi, M. | |
| X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats | 1-gen-1999 | Bassi, Mt; Ramesar, Rs; Caciotti, B; Winship, Im; DE GRANDI, A; Riboni, M; Townes, Pl; Beighton, P; Ballabio, A; Borsani, Giuseppe | |
| X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and novel gene containing WD-40 repeats | 1-gen-1999 | Bassi, M. T.; Ramesar, R. S.; Caciotti, B.; Winship, I. M.; De Grandi, A.; Riboni, M.; Townes, P. L.; Beighton, P.; Ballabio, A.; Borsani, G. | |
| X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. | 1-gen-2011 | Booth, C; Gilmour, Kc; Veys, P; Gennery, Ar; Slatter, Ma; Chapel, H; Heath, Pt; Steward, Cg; Smith, O; O'Meara, A; Kerrigan, H; Mahlaoui, N; Cavazzana Calvo, M; Fischer, A; Moshous, D; Blanche, S; Pachlopnick Schmid, J; Latour, S; de Saint Basile, G; Albert, M; Notheis, G; Rieber, N; Strahm, B; Ritterbusch, H; Lankester, A; Hartwig, Ng; Meyts, I; Plebani, Alessandro; Soresina, A; Finocchi, A; Pignata, C; Cirillo, E; Bonanomi, S; Peters, C; Kalwak, K; Pasic, S; Sedlacek, P; Jazbec, J; Kanegane, H; Nichols, Ke; Hanson, Ic; Kapoor, N; Haddad, E; Cowan, M; Choo, S; Smart, J; Arkwright, Pd; Gaspar, Hb | |
| X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells | 1-gen-2000 | Parolini, Silvia; Bottino, C; Falco, M; Augugliaro, R; Giliani, Silvia Clara; Franceschini, R; Ochs, Hd; Wolf, H; Bonnefoy, Jy; Biassoni, R; Moretta, L; Notarangelo, Luigi Daniele; Moretta, A. | |
| X-linked lymphoproliferative disease: the dark side of 2B4 function. | 1-gen-2001 | Bottino, C; Parolini, Silvia; Biassoni, R; Falco, M; Notarangelo, Ld; Moretta, A. | |
| X-linked mental retardation with Marfanoid habitus. First report of four italian patients. | 1-gen-1991 | Lalatta, F.; Livini, E.; Selicorni, A.; Briscoli, V.; Vita, Antonio | |
| X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 | 1-gen-2021 | Asano, T.; Boisson, B.; Onodi, F.; Matuozzo, D.; Moncada-Velez, M.; Renkilaraj, M. R. L. M.; Zhang, P.; Meertens, L.; Bolze, A.; Materna, M.; Korniotis, S.; Gervais, A.; Talouarn, E.; Bigio, B.; Seeleuthner, Y.; Bilguvar, K.; Zhang, Y.; Neehus, A. -L.; Ogishi, M.; Pelham, S. J.; Le Voyer, T.; Rosain, J.; Philippot, Q.; Soler-Palacin, P.; Colobran, R.; Martin-Nalda, A.; Riviere, J. G.; Tandjaoui-Lambiotte, Y.; Chaibi, K.; Shahrooei, M.; Darazam, I. A.; Olyaei, N. A.; Mansouri, D.; Hatipoglu, N.; Palabiyik, F.; Ozcelik, T.; Novelli, G.; Novelli, A.; Casari, G.; Aiuti, A.; Carrera, P.; Bondesan, S.; Barzaghi, F.; Rovere-Querini, P.; Tresoldi, C.; Franco, J. L.; Rojas, J.; Reyes, L. F.; Bustos, I. G.; Arias, A. A.; Morelle, G.; Kyheng, C.; Troya, J.; Planas-Serra, L.; Schluter, A.; Gut, M.; Pujol, A.; Allende, L. M.; Rodriguez-Gallego, C.; Flores, C.; Cabrera-Marante, O.; Pleguezuelo, D. E.; Diego, R. P. D.; Keles, S.; Aytekin, G.; Akcan, O. M.; Bryceson, Y. T.; Bergman, P.; Brodin, P.; Smole, D.; Smith, C. I. E.; Norlin, A. -C.; Campbell, T. M.; Covill, L. E.; Hammarstrom, L.; Pan-Hammarstrom, Q.; Abolhassani, H.; Mane, S.; Marr, N.; Ata, M.; Ali, F. A.; Khan, T.; Spaan, A. N.; Dalgard, C. L.; Bonfanti, P.; Biondi, A.; Tubiana, S.; Burdet, C.; Nussbaum, R.; Kahn-Kirby, A.; Snow, A. L.; Bustamante, J.; Puel, A.; Boisson-Dupuis, S.; Zhang, S. -Y.; Beziat, V.; Lifton, R. P.; Bastard, P.; Notarangelo, L. D.; Abel, L.; Su, H. C.; Jouanguy, E.; Amara, A.; Soumelis, V.; Cobat, A.; Zhang, Q.; Casanova, J. -L.; Imberti, L.; Sottini, A.; Quaresima, V.; Quiros-Roldan, E. | |
| X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations: A New Family and Review of the Literature | 1-gen-2013 | Pezzani, Lidia; Brena, M.; Callea, M.; Colombi, Marina; Tadini, G. | |
| X-ray and neutron diffraction study of the layered compound CoGaInS4 | 1-gen-1991 | Depero, Laura Eleonora | |
| X-ray computed µ-tomography for the characterization of optical fibers | 1-gen-2022 | Ferraro, M.; Crocco, M. C.; Mangini, F.; Jonard, M.; Sangiovanni, F.; Zitelli, M.; Filosa, R.; Beltrano, J. J.; Luca, A. D. E.; Barberi, R. C.; Agostino, R. G.; Couderc, V.; Wabnitz, S.; Formoso, V. | |
| X-ray diffraction analysis of the polymorphic behaviour of nimesulide loaded into crospovidone | 1-gen-2001 | Bergese, Paolo; Bontempi, Elza; Colombo, I; Gervasoni, D; Depero, Laura Eleonora | |
| X-ray diffraction and modelling studies of multilayer SnO2 thin film gas sensors | 1-gen-1996 | Depero, Laura Eleonora; Perego, C.; Sangaletti, L.; Sberveglieri, Giorgio |
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