Sfoglia per Titolo
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
2012-01-01 Rice, Gi; Kasher, Pr; Forte, Gm; Mannion, Nm; Greenwood, Sm; Szynkiewicz, M.; Dickerson, Je; Bhaskar, Ss; Zampini, M.; Briggs, Ta; Jenkinson, Em; Bacino, Ca; Battini, R.; Bertini, E.; Brogan, Pa; Brueton, La; Carpanelli, M.; De Laet, C.; de Lonlay, P.; Del Toro, M.; Desguerre, I.; Fazzi, Elisa Maria; Garcia Cazorla, A.; Heiberg, A.; Kawaguchi, M.; Kumar, R.; Lin, Jp; Lourenco, Cm; Male, Am; Marques W., Jr; Mignot, C.; Olivieri, I.; Orcesi, S.; Prabhakar, P.; Rasmussen, M.; Robinson, Ra; Rozenberg, F.; Schmidt, Jl; Steindl, K.; Tan, Ty; van der Merwe, Wg; Vanderver, A.; Vassallo, G.; Wakeling, El; Wassmer, E.; Whittaker, E.; Livingston, Jh; Lebon, P.; Suzuki, T.; Mclaughlin, Pj; Keegan, Lp; O'Connell, Ma; Lovell, Sc; Crow, Yj
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
2006-01-01 Valente, Em; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; AL GAZALI, L; Fazzi, Elisa Maria; Signorini, S; Louie, Cm; Bellacchio, E; INTERNATIONAL JOUBERT SYNDROME RELATED DISORDERS STUDY, Group; Bertini, E; Dallapiccola, B; Gleeson, Jg
Mutations in COL4A5 gene in X-linked Alport syndrome in a multicenter study.
1993-01-01 Renieri, A; Massella, L; De Nigris, A; Rizzoni, G; Galli, L; Seri, M; De Marchi, M.; Scolari, Francesco
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
2014-01-01 Citterio, A.; Arnoldi, A.; Panzeri, E.; D'Angelo, M. G.; Filosto, M.; Dilena, R.; Arrigoni, F.; Castelli, M.; Maghini, C.; Germiniasi, C.; Menni, F.; Martinuzzi, A.; Bresolin, N.; Bassi, M. T.
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
2013-01-01 Ronchi, D.; Di Fonzo, A.; Lin, W.; Bordoni, A.; Liu, C.; Fassone, E.; Pagliarani, S.; Rizzuti, M.; Zheng, L.; Filosto, M.; Ferro, M. T.; Ranieri, M.; Magri, F.; Peverelli, L.; Li, H.; Yuan, Y. -C.; Corti, S.; Sciacco, M.; Moggio, M.; Bresolin, N.; Shen, B.; Comi, G. P.
Mutations in DSTYK and dominant urinary tract malformations.
2013-01-01 Sanna Cherchi, S; Sampogna, Rv; Papeta, N; Burgess, Ke; Nees, Sn; Perry, Bj; Choi, M; Bodria, M; Liu, Y; Weng, Pl; Lozanovski, Vj; Verbitsky, M; Lugani, F; Sterken, R; Paragas, N; Caridi, G; Carrea, A; Dagnino, M; Materna Kiryluk, A; Santamaria, G; Murtas, C; Ristoska Bojkovska, N; Izzi, C; Kacak, N; Bianco, B; Giberti, S; Gigante, M; Piaggio, G; Gesualdo, L; Kosuljandic Vukic, D; Vukojevic, K; Saraga Babic, M; Saraga, M; Gucev, Z; Allegri, L; Latos Bielenska, A; Casu, D; State, M; Scolari, Francesco; Ravazzolo, R; Kiryluk, K; Al Awqati, Q; D'Agati, Vd; Drummond, Ia; Tasic, V; Lifton, Rp; Ghiggeri, Gm; Gharavi, A. G.
Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia
2008-01-01 Ferlin, Alberto
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
2012-01-01 Baumann, M; Giunta, Cecilia; Krabichler, B; Rüschendorf, F; Zoppi, N; Colombi, M; Bittner, Re; Quijano-Roy, S; Muntoni, F; Cirak, S; Schreiber, G; Zou, Y; Hu, Y; Romero, Nb; Carlier, Ry; Amberger, A; Deutschmann, A; Straub, V; Rohrbach, M; Steinmann, B; Rostásy, K; Karall, D; Bönnemann, Cg; Zschocke, J; Fauth, C.
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
2006-01-01 Crow, Yj; Leitch, A; Hayward, Be; Garner, A; Parmar, R; Griffith, E; Ali, M; Semple, C; Aicardi, J; BABUL HIRJI, R; Baumann, C; Baxter, P; Bertini, E; Chandler, Ke; Chitayat, D; Cau, D; Déry, C; Fazzi, Elisa Maria; Goizet, C; King, Md; Klepper, J; Lacombe, D; Lanzi, G; Lyall, H; MARTÍNEZ FRÍAS, Ml; Mathieu, M; Mckeown, C; Monier, A; Oade, Y; Quarrell, Ow; Rittey, Cd; Rogers, Rc; Sanchis, A; Stephenson, Jb; Tacke, U; Till, M; Tolmie, Jl; Tomlin, P; Voit, T; Weschke, B; Woods, Cg; Lebon, P; Bonthron, Dt; Ponting, Cp; Jackson, Ap
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
2009-01-01 Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; AL GAZALI, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; ABDEL ALEEM, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, Elisa Maria; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg
Mutations in INSL3 and RXFP2 genes in cryptorchid boys.
2009-01-01 Ferlin, Alberto
Mutations in JAK2 and Calreticulin genes are associated with specific alterations of the immune system in myelofibrosis
2017-01-01 Romano, M.; Sollazzo, D.; Trabanelli, S.; Barone, M.; Polverelli, N.; Perricone, M.; Forte, D.; Luatti, S.; Cavo, M.; Vianelli, N.; Jandus, C.; Palandri, F.; Catani, L.
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
2006-01-01 Pangrazio, A; Poliani, Pietro Luigi; Megarbane, A; Lefranc, G; Lanino, E; DI ROCCO, M; Rucci, F; Lucchini, F; Ravanini, Maria; Facchetti, Fabio; Abinun, M; Vezzoni, P; Villa, A; Frattini, A.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
2011-01-01 Burkitt Wright, Em; Spencer, Hl; Daly, Sb; Manson, Fd; Zeef, La; Urquhart, J; Zoppi, Nicoletta; Bonshek, R; Tosounidis, I; Mohan, M; Madden, C; Dodds, A; Chandler, Ke; Banka, S; Au, L; Clayton Smith, J; Khan, N; Biesecker, Lg; Wilson, M; Rohrbach, M; Colombi, Marina; Giunta, C; Black, G. C.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
2010-01-01 Woellner, C; Gertz, Em; Schaffer, Aa; Lagos, M; Perro, M; Glocker, Eo; Pietrogrande, Mc; Cossu, F; Franco, Jl; Matamoros, N; Pietrucha, B; Heropolitanska Pliszka, E; Yeganeh, M; Moin, M; Espanol, T; Ehl, S; Gennery, Ar; Abinun, M; Breborowicz, A; Niehues, T; Kilic, Ss; Junker, A; Turvey, Se; Plebani, Alessandro; Sanchez, B; Garty, Bz; Pignata, C; Cancrini, C; Litzman, J; Sanal, O; Baumann, U; Bacchetta, R; Hsu, Ap; Davis, Jn; Hammarstrom, L; Davies, Eg; Eren, E; Arkwright, Pd; Moilanen, Js; Viemann, D; Khan, S; Marodi, L; Cant, Aj; Freeman, Af; Puck, Jm; Holland, Sm; Grimbacher, B.
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection
2011-01-01 Pezzini, Alessandro; Drera, B; DEL ZOTTO, Elisabetta; Ritelli, Marco Giuseppe; Carletti, M; Tomelleri, G; Bovi, P; Giossi, A; Volonghi, I; Costa, P; Magoni, M; Padovani, Alessandro; Barlati, Sergio; Colombi, Marina
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
1998-01-01 Wuyts, W; VAN HUL, W; DE BOULLE, K; Handrickx, J; Bakker, E; Vanhoenacker, F; Mollica, F; Ludecke, Hj; Sayli, Bs; Pazzaglia, Ugo; Mortier, G; Hamel, B; Conrad, Eu; Matsushita, M; Rashind, Wh; Willems, Pj
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
1998-01-01 Wuyts, W; Van Hul, W; De Boulle, K; Hendrickx, J; Bakker, E; Vanhoenacker, F; Mollica, F; Lüdecke, Hj; Sayli, Bs; Pazzaglia, Ugo; Mortier, G; Hamel, B; Conrad, Eu; Matsushita, M; Raskind, Wh; Willems, Pj
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
2006-01-01 Coucke, Pj; Willaert, A; Wessels, Mw; Callewaert, B; Zoppi, Nicoletta; De Backer, J; Fox, Je; Mancini, Gm; Kambouris, M; Gardella, Rita; Facchetti, Fabio; Willems, Pj; Forsyth, R; Dietz, Hc; Barlati, Sergio; Colombi, Marina; Loeys, B; De Paepe, A.
Mutations in the insulin-like factor 3 receptor are associated with osteoporosis
2008-01-01 Ferlin, Alberto
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. | 1-gen-2012 | Rice, Gi; Kasher, Pr; Forte, Gm; Mannion, Nm; Greenwood, Sm; Szynkiewicz, M.; Dickerson, Je; Bhaskar, Ss; Zampini, M.; Briggs, Ta; Jenkinson, Em; Bacino, Ca; Battini, R.; Bertini, E.; Brogan, Pa; Brueton, La; Carpanelli, M.; De Laet, C.; de Lonlay, P.; Del Toro, M.; Desguerre, I.; Fazzi, Elisa Maria; Garcia Cazorla, A.; Heiberg, A.; Kawaguchi, M.; Kumar, R.; Lin, Jp; Lourenco, Cm; Male, Am; Marques W., Jr; Mignot, C.; Olivieri, I.; Orcesi, S.; Prabhakar, P.; Rasmussen, M.; Robinson, Ra; Rozenberg, F.; Schmidt, Jl; Steindl, K.; Tan, Ty; van der Merwe, Wg; Vanderver, A.; Vassallo, G.; Wakeling, El; Wassmer, E.; Whittaker, E.; Livingston, Jh; Lebon, P.; Suzuki, T.; Mclaughlin, Pj; Keegan, Lp; O'Connell, Ma; Lovell, Sc; Crow, Yj | |
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. | 1-gen-2006 | Valente, Em; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; AL GAZALI, L; Fazzi, Elisa Maria; Signorini, S; Louie, Cm; Bellacchio, E; INTERNATIONAL JOUBERT SYNDROME RELATED DISORDERS STUDY, Group; Bertini, E; Dallapiccola, B; Gleeson, Jg | |
| Mutations in COL4A5 gene in X-linked Alport syndrome in a multicenter study. | 1-gen-1993 | Renieri, A; Massella, L; De Nigris, A; Rizzoni, G; Galli, L; Seri, M; De Marchi, M.; Scolari, Francesco | |
| Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis | 1-gen-2014 | Citterio, A.; Arnoldi, A.; Panzeri, E.; D'Angelo, M. G.; Filosto, M.; Dilena, R.; Arrigoni, F.; Castelli, M.; Maghini, C.; Germiniasi, C.; Menni, F.; Martinuzzi, A.; Bresolin, N.; Bassi, M. T. | |
| Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability | 1-gen-2013 | Ronchi, D.; Di Fonzo, A.; Lin, W.; Bordoni, A.; Liu, C.; Fassone, E.; Pagliarani, S.; Rizzuti, M.; Zheng, L.; Filosto, M.; Ferro, M. T.; Ranieri, M.; Magri, F.; Peverelli, L.; Li, H.; Yuan, Y. -C.; Corti, S.; Sciacco, M.; Moggio, M.; Bresolin, N.; Shen, B.; Comi, G. P. | |
| Mutations in DSTYK and dominant urinary tract malformations. | 1-gen-2013 | Sanna Cherchi, S; Sampogna, Rv; Papeta, N; Burgess, Ke; Nees, Sn; Perry, Bj; Choi, M; Bodria, M; Liu, Y; Weng, Pl; Lozanovski, Vj; Verbitsky, M; Lugani, F; Sterken, R; Paragas, N; Caridi, G; Carrea, A; Dagnino, M; Materna Kiryluk, A; Santamaria, G; Murtas, C; Ristoska Bojkovska, N; Izzi, C; Kacak, N; Bianco, B; Giberti, S; Gigante, M; Piaggio, G; Gesualdo, L; Kosuljandic Vukic, D; Vukojevic, K; Saraga Babic, M; Saraga, M; Gucev, Z; Allegri, L; Latos Bielenska, A; Casu, D; State, M; Scolari, Francesco; Ravazzolo, R; Kiryluk, K; Al Awqati, Q; D'Agati, Vd; Drummond, Ia; Tasic, V; Lifton, Rp; Ghiggeri, Gm; Gharavi, A. G. | |
| Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia | 1-gen-2008 | Ferlin, Alberto | |
| Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | 1-gen-2012 | Baumann, M; Giunta, Cecilia; Krabichler, B; Rüschendorf, F; Zoppi, N; Colombi, M; Bittner, Re; Quijano-Roy, S; Muntoni, F; Cirak, S; Schreiber, G; Zou, Y; Hu, Y; Romero, Nb; Carlier, Ry; Amberger, A; Deutschmann, A; Straub, V; Rohrbach, M; Steinmann, B; Rostásy, K; Karall, D; Bönnemann, Cg; Zschocke, J; Fauth, C. | |
| Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 1-gen-2006 | Crow, Yj; Leitch, A; Hayward, Be; Garner, A; Parmar, R; Griffith, E; Ali, M; Semple, C; Aicardi, J; BABUL HIRJI, R; Baumann, C; Baxter, P; Bertini, E; Chandler, Ke; Chitayat, D; Cau, D; Déry, C; Fazzi, Elisa Maria; Goizet, C; King, Md; Klepper, J; Lacombe, D; Lanzi, G; Lyall, H; MARTÍNEZ FRÍAS, Ml; Mathieu, M; Mckeown, C; Monier, A; Oade, Y; Quarrell, Ow; Rittey, Cd; Rogers, Rc; Sanchis, A; Stephenson, Jb; Tacke, U; Till, M; Tolmie, Jl; Tomlin, P; Voit, T; Weschke, B; Woods, Cg; Lebon, P; Bonthron, Dt; Ponting, Cp; Jackson, Ap | |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | 1-gen-2009 | Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; AL GAZALI, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; ABDEL ALEEM, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, Elisa Maria; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg | |
| Mutations in INSL3 and RXFP2 genes in cryptorchid boys. | 1-gen-2009 | Ferlin, Alberto | |
| Mutations in JAK2 and Calreticulin genes are associated with specific alterations of the immune system in myelofibrosis | 1-gen-2017 | Romano, M.; Sollazzo, D.; Trabanelli, S.; Barone, M.; Polverelli, N.; Perricone, M.; Forte, D.; Luatti, S.; Cavo, M.; Vianelli, N.; Jandus, C.; Palandri, F.; Catani, L. | |
| Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement | 1-gen-2006 | Pangrazio, A; Poliani, Pietro Luigi; Megarbane, A; Lefranc, G; Lanino, E; DI ROCCO, M; Rucci, F; Lucchini, F; Ravanini, Maria; Facchetti, Fabio; Abinun, M; Vezzoni, P; Villa, A; Frattini, A. | |
| Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. | 1-gen-2011 | Burkitt Wright, Em; Spencer, Hl; Daly, Sb; Manson, Fd; Zeef, La; Urquhart, J; Zoppi, Nicoletta; Bonshek, R; Tosounidis, I; Mohan, M; Madden, C; Dodds, A; Chandler, Ke; Banka, S; Au, L; Clayton Smith, J; Khan, N; Biesecker, Lg; Wilson, M; Rohrbach, M; Colombi, Marina; Giunta, C; Black, G. C. | |
| Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome | 1-gen-2010 | Woellner, C; Gertz, Em; Schaffer, Aa; Lagos, M; Perro, M; Glocker, Eo; Pietrogrande, Mc; Cossu, F; Franco, Jl; Matamoros, N; Pietrucha, B; Heropolitanska Pliszka, E; Yeganeh, M; Moin, M; Espanol, T; Ehl, S; Gennery, Ar; Abinun, M; Breborowicz, A; Niehues, T; Kilic, Ss; Junker, A; Turvey, Se; Plebani, Alessandro; Sanchez, B; Garty, Bz; Pignata, C; Cancrini, C; Litzman, J; Sanal, O; Baumann, U; Bacchetta, R; Hsu, Ap; Davis, Jn; Hammarstrom, L; Davies, Eg; Eren, E; Arkwright, Pd; Moilanen, Js; Viemann, D; Khan, S; Marodi, L; Cant, Aj; Freeman, Af; Puck, Jm; Holland, Sm; Grimbacher, B. | |
| Mutations in TGFBR2 gene cause spontaneous cervical artery dissection | 1-gen-2011 | Pezzini, Alessandro; Drera, B; DEL ZOTTO, Elisabetta; Ritelli, Marco Giuseppe; Carletti, M; Tomelleri, G; Bovi, P; Giossi, A; Volonghi, I; Costa, P; Magoni, M; Padovani, Alessandro; Barlati, Sergio; Colombi, Marina | |
| Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. | 1-gen-1998 | Wuyts, W; VAN HUL, W; DE BOULLE, K; Handrickx, J; Bakker, E; Vanhoenacker, F; Mollica, F; Ludecke, Hj; Sayli, Bs; Pazzaglia, Ugo; Mortier, G; Hamel, B; Conrad, Eu; Matsushita, M; Rashind, Wh; Willems, Pj | |
| Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. | 1-gen-1998 | Wuyts, W; Van Hul, W; De Boulle, K; Hendrickx, J; Bakker, E; Vanhoenacker, F; Mollica, F; Lüdecke, Hj; Sayli, Bs; Pazzaglia, Ugo; Mortier, G; Hamel, B; Conrad, Eu; Matsushita, M; Raskind, Wh; Willems, Pj | |
| Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome | 1-gen-2006 | Coucke, Pj; Willaert, A; Wessels, Mw; Callewaert, B; Zoppi, Nicoletta; De Backer, J; Fox, Je; Mancini, Gm; Kambouris, M; Gardella, Rita; Facchetti, Fabio; Willems, Pj; Forsyth, R; Dietz, Hc; Barlati, Sergio; Colombi, Marina; Loeys, B; De Paepe, A. | |
| Mutations in the insulin-like factor 3 receptor are associated with osteoporosis | 1-gen-2008 | Ferlin, Alberto |
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