Sfoglia per Autore
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
2012-01-01 Zampatti, S; Castori, M; Fischer, B; Ferrari, P; Garavelli, L; Dionisi-Vici, C; Agolini, E; Wischmeijer, A; Morava, E; Novelli, G; Häberle, J; Kornak, U; Brancati, F
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
2012-01-01 Lo-Castro, A; Brancati, F; Digilio, Mc; Garaci, Fg; Bollero, P; Alfieri, P; Curatolo, P.
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
2012-01-01 Lee, Jh; Silhavy, Jl; Lee, Je; Al-Gazali, L; Thomas, S; Davis, Ee; Bielas, Sl; Hill, Kj; Iannicelli, M; Brancati, F; Gabriel, Sb; Russ, C; Logan, Cv; Sharif, Sm; Bennett, Cp; Abe, M; Hildebrandt, F; Diplas, Bh; Attié-Bitach, T; Katsanis, N; Rajab, A; Koul, R; Sztriha, L; Waters, Er; Ferro-Novick, S; Woods, Cg; Johnson, Ca; Valente, Em; Zaki, Ms; Gleeson, Jg
Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis.
2012-01-01 Conte, A; Brancati, F; Garaci, Fg; Toschi, N; Bologna, M; Fabbrini, G; Falla, M; Dallapiccola, B; Bollero, P; Floris, R; Berardelli, A.
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders
2013-01-01 Schanze, Denny; Harakalova, Magdalena; Stevens Cathy, A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz Victor, E. F.; Mcdonald-Mcginn Donna, M.; Zackai Elaine, H.; Wright, Michael; van Lieshout, Stef; Vogel Maartje, J.; van Haelst Mieke, M.; Zenker, Martin
Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
2013-01-01 Brancati, F; Agolini, E; Fortugno, P.
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
2013-01-01 Dimopoulou, A; Fischer, B; Gardeitchik, T; Schröter, P; Kayserili, H; Schlack, C; Li, Y; Brum, Jm; Barisic, I; Castori, M; Spaich, C; Fletcher, E; Mahayri, Z; Bhat, M; Girisha, Km; Lachlan, K; Johnson, D; Phadke, S; Gupta, N; Simandlova, M; Kabra, M; David, A; Nijtmans, L; Chitayat, D; Tuysuz, B; Brancati, F; Mundlos, S; Van Maldergem, L; Morava, E; Wollnik, B; Kornak, U.
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
2013-01-01 Kojovic, M; Pareés, I; Lampreia, T; Pienczk-Reclawowicz, K; Xiromerisiou, G; Rubio-Agusti, I; Kramberger, M; Carecchio, M; Alazami, Am; Brancati, F; Slawek, J; Pirtosek, Z; Valente, Em; Alkuraya, Fs; Edwards, Mj; Bhatia, Kp.
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
2013-01-01 Nikkel, Sm; Dauber, A; de Munnik, S; Connolly, M; Hood, Rl; Caluseriu, O; Hurst, J; Kini, U; Nowaczyk, Mj; Afenjar, A; Albrecht, B; Allanson, Je; Balestri, P; Ben-Omran, T; Brancati, F; Cordeiro, I; da Cunha, Bs; Delaney, La; Destrée, A; Fitzpatrick, D; Forzano, F; Ghali, N; Gillies, G; Harwood, K; Hendriks, Ym; Héron, D; Hoischen, A; Honey, Em; Hoefsloot, Lh; Ibrahim, J; Jacob, Cm; Kant, Sg; Kim, Ca; Kirk, Ep; Knoers, Nv; Lacombe, D; Lee, C; Lo, If; Lucas, Ls; Mari, F; Mericq, V; Moilanen, Js; Møller, St; Moortgat, S; Pilz, Dt; Pope, K; Price, S; Renieri, A; Sá, J; Schoots, J; Silveira, El; Simon, Me; Slavotinek, A; Temple, Ik; van der Burgt, I; de Vries, Bb; Weisfeld-Adams, Jd; Whiteford, Ml; Wierczorek, D; Wit, Jm; Yee, Cf; Beaulieu, Cl; FORGE Canada, Consortium; White, Sm; Bulman, De; Bongers, E; Brunner, H; Feingold, M; Boycott, Km
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders.
2013-01-01 Travaglini, L; Brancati, F; Silhavy, J; Iannicelli, M; Nickerson, E; Elkhartoufi, N; Scott, E; Spencer, E; Gabriel, S; Thomas, S; Ben-Zeev, B; Bertini, E; Boltshauser, E; Chaouch, M; Roberta Cilio, M; de Jong, Mm; Kayserili, H; Ogur, G; Poretti, A; Signorini, S; Uziel, G; Zaki, Ms; International JSRD Study, Group; Johnson, C; Attié-Bitach, T; Gleeson, Jg; Valente, Em.
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
2014-01-01 Castori, Marco; Morlino, Silvia; Ritelli, Marco; Brancati, Francesco; De Bernardo, Carmelilia; Colombi, Marina; Grammatico, Paola
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin
2014-01-01 Carboni, Nicola; Brancati, Francesco; Cocco, Eleonora; Solla, Elisabetta; D'Apice Maria, R.; Mateddu, Anna; Mcintyre, Adam; Fadda, Elisabetta; Mura, Marco; Lattanzi, Giovanna; Piras, Rachele; Maioli Maria, A.; Marrosu, Giovanni; Novelli, Giuseppe; Marrosu Maria, G.; Hegele Robert, A.
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation
2014-01-01 Fortugno, Paola; Josselin, Emmanuelle; Tsiakas, Konstantinos; Agolini, Emanuele; Cestra, Gianluca; Teson, Massimo; Santer, René; Castiglia, Daniele; Novelli, Giuseppe; Dallapiccola, Bruno; Kurth, Ingo; Lopez, Marc; Zambruno, Giovanna; Brancati, Francesco
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
2014-01-01 Rapini, Novella; Lidano, Roberta; Pietrosanti, Silvia; Vitiello, Giuseppina; Grimaldi, Chiara; Postorivo, Diana; Nardone, Anna Maria; Del Bufalo, Francesca; Brancati, Francesco; Manca Bitti, Maria Luisa
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy
2014-01-01 Farhan, Sali M. K.; Robinson, John F.; Mcintyre, Adam D.; Marrosu, Maria G.; Ticca, Anna F.; Loddo, Sara; Carboni, Nicola; Brancati, Francesco; Hegele, Robert A.
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
2014-01-01 Fallerini, C; Dosa, L; Tita, R; Del Prete, D; Feriozzi, S; Gai, G; Clementi, M; La Manna, A; Miglietti, N; Mancini, R; Mandrile, G; Ghiggeri, Gm; Piaggio, G; Brancati, F; Diano, L; Frate, E; Pinciaroli, Ar; Giani, M; Castorina, P; Bresin, E; Giachino, D; De Marchi, M; Mari, F; Bruttini, M; Renieri, A; Ariani, F.
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer
2014-01-01 Lattanzio, Rossano; Ghasemi, Reza; Brancati, Francesco; Sorda, R. L.; Tinari, Nicola; Perracchio, L.; Iacobelli, Stefano; Mottolese, M.; Natali, P. G.; Piantelli, Mauro
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome
2014-01-01 Hussain Muhammad, Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat Mohammad, Reza; Sakakibara, Shin-Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart Jill, E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman William, G.; Nürnberg, Peter
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
2015-01-01 Walz, Katherina; Cohen, Devon; Neilsen, Paul M.; Foster, Joseph; Brancati, Francesco; Demir, Korcan; Fisher, Richard; Moffat, Michelle; Verbeek, Nienke E.; Bjørgo, Kathrine; Lo Castro, Adriana; Curatolo, Paolo; Novelli, Giuseppe; Abad, Clemer; Lei, Cao; Zhang, Lily; Diaz Horta, Oscar; Young, Juan I.; Callen, David F.; Tekin, Mustafa
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015-01-01 Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; Van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-Van Silfhout Anneke, T.; Wolfe Lynne, A.; Tifft Cynthia, J.; Zerfas Patricia, M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos Maria, G.; Lee Chyi-Chia, R.; Ferraz, Victor; Da Silva Eduarda, Morgana; Stevens Cathy, A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks Brian, P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos Feliciano, J.; Chung Hon-Yin, Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk Witold, K.; Mazzanti, Laura; Brunner Han, G.; Bakkers, Jeroen; Lin, Shuo; Malicdan May Christine, V.; Boerkoel Cornelius, F.; Gahl William, A.; De Vries Bert, B. A.; Van Haelst Mieke, M.; Zenker, Martin; Markello Thomas, C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. | 1-gen-2012 | Zampatti, S; Castori, M; Fischer, B; Ferrari, P; Garavelli, L; Dionisi-Vici, C; Agolini, E; Wischmeijer, A; Morava, E; Novelli, G; Häberle, J; Kornak, U; Brancati, F | |
| Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. | 1-gen-2012 | Lo-Castro, A; Brancati, F; Digilio, Mc; Garaci, Fg; Bollero, P; Alfieri, P; Curatolo, P. | |
| Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. | 1-gen-2012 | Lee, Jh; Silhavy, Jl; Lee, Je; Al-Gazali, L; Thomas, S; Davis, Ee; Bielas, Sl; Hill, Kj; Iannicelli, M; Brancati, F; Gabriel, Sb; Russ, C; Logan, Cv; Sharif, Sm; Bennett, Cp; Abe, M; Hildebrandt, F; Diplas, Bh; Attié-Bitach, T; Katsanis, N; Rajab, A; Koul, R; Sztriha, L; Waters, Er; Ferro-Novick, S; Woods, Cg; Johnson, Ca; Valente, Em; Zaki, Ms; Gleeson, Jg | |
| Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis. | 1-gen-2012 | Conte, A; Brancati, F; Garaci, Fg; Toschi, N; Bologna, M; Fabbrini, G; Falla, M; Dallapiccola, B; Bollero, P; Floris, R; Berardelli, A. | |
| Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders | 1-gen-2013 | Schanze, Denny; Harakalova, Magdalena; Stevens Cathy, A.; Brancati, Francesco; Dallapiccola, Bruno; Farndon, Peter; Ferraz Victor, E. F.; Mcdonald-Mcginn Donna, M.; Zackai Elaine, H.; Wright, Michael; van Lieshout, Stef; Vogel Maartje, J.; van Haelst Mieke, M.; Zenker, Martin | |
| Nectinopathies: an emerging group of ectodermal dysplasia syndromes. | 1-gen-2013 | Brancati, F; Agolini, E; Fortugno, P. | |
| Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. | 1-gen-2013 | Dimopoulou, A; Fischer, B; Gardeitchik, T; Schröter, P; Kayserili, H; Schlack, C; Li, Y; Brum, Jm; Barisic, I; Castori, M; Spaich, C; Fletcher, E; Mahayri, Z; Bhat, M; Girisha, Km; Lachlan, K; Johnson, D; Phadke, S; Gupta, N; Simandlova, M; Kabra, M; David, A; Nijtmans, L; Chitayat, D; Tuysuz, B; Brancati, F; Mundlos, S; Van Maldergem, L; Morava, E; Wollnik, B; Kornak, U. | |
| The syndrome of deafness-dystonia: clinical and genetic heterogeneity. | 1-gen-2013 | Kojovic, M; Pareés, I; Lampreia, T; Pienczk-Reclawowicz, K; Xiromerisiou, G; Rubio-Agusti, I; Kramberger, M; Carecchio, M; Alazami, Am; Brancati, F; Slawek, J; Pirtosek, Z; Valente, Em; Alkuraya, Fs; Edwards, Mj; Bhatia, Kp. | |
| The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. | 1-gen-2013 | Nikkel, Sm; Dauber, A; de Munnik, S; Connolly, M; Hood, Rl; Caluseriu, O; Hurst, J; Kini, U; Nowaczyk, Mj; Afenjar, A; Albrecht, B; Allanson, Je; Balestri, P; Ben-Omran, T; Brancati, F; Cordeiro, I; da Cunha, Bs; Delaney, La; Destrée, A; Fitzpatrick, D; Forzano, F; Ghali, N; Gillies, G; Harwood, K; Hendriks, Ym; Héron, D; Hoischen, A; Honey, Em; Hoefsloot, Lh; Ibrahim, J; Jacob, Cm; Kant, Sg; Kim, Ca; Kirk, Ep; Knoers, Nv; Lacombe, D; Lee, C; Lo, If; Lucas, Ls; Mari, F; Mericq, V; Moilanen, Js; Møller, St; Moortgat, S; Pilz, Dt; Pope, K; Price, S; Renieri, A; Sá, J; Schoots, J; Silveira, El; Simon, Me; Slavotinek, A; Temple, Ik; van der Burgt, I; de Vries, Bb; Weisfeld-Adams, Jd; Whiteford, Ml; Wierczorek, D; Wit, Jm; Yee, Cf; Beaulieu, Cl; FORGE Canada, Consortium; White, Sm; Bulman, De; Bongers, E; Brunner, H; Feingold, M; Boycott, Km | |
| Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders. | 1-gen-2013 | Travaglini, L; Brancati, F; Silhavy, J; Iannicelli, M; Nickerson, E; Elkhartoufi, N; Scott, E; Spencer, E; Gabriel, S; Thomas, S; Ben-Zeev, B; Bertini, E; Boltshauser, E; Chaouch, M; Roberta Cilio, M; de Jong, Mm; Kayserili, H; Ogur, G; Poretti, A; Signorini, S; Uziel, G; Zaki, Ms; International JSRD Study, Group; Johnson, C; Attié-Bitach, T; Gleeson, Jg; Valente, Em. | |
| Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain | 1-gen-2014 | Castori, Marco; Morlino, Silvia; Ritelli, Marco; Brancati, Francesco; De Bernardo, Carmelilia; Colombi, Marina; Grammatico, Paola | |
| Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin | 1-gen-2014 | Carboni, Nicola; Brancati, Francesco; Cocco, Eleonora; Solla, Elisabetta; D'Apice Maria, R.; Mateddu, Anna; Mcintyre, Adam; Fadda, Elisabetta; Mura, Marco; Lattanzi, Giovanna; Piras, Rachele; Maioli Maria, A.; Marrosu, Giovanni; Novelli, Giuseppe; Marrosu Maria, G.; Hegele Robert, A. | |
| Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation | 1-gen-2014 | Fortugno, Paola; Josselin, Emmanuelle; Tsiakas, Konstantinos; Agolini, Emanuele; Cestra, Gianluca; Teson, Massimo; Santer, René; Castiglia, Daniele; Novelli, Giuseppe; Dallapiccola, Bruno; Kurth, Ingo; Lopez, Marc; Zambruno, Giovanna; Brancati, Francesco | |
| De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver | 1-gen-2014 | Rapini, Novella; Lidano, Roberta; Pietrosanti, Silvia; Vitiello, Giuseppina; Grimaldi, Chiara; Postorivo, Diana; Nardone, Anna Maria; Del Bufalo, Francesca; Brancati, Francesco; Manca Bitti, Maria Luisa | |
| A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy | 1-gen-2014 | Farhan, Sali M. K.; Robinson, John F.; Mcintyre, Adam D.; Marrosu, Maria G.; Ticca, Anna F.; Loddo, Sara; Carboni, Nicola; Brancati, Francesco; Hegele, Robert A. | |
| Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. | 1-gen-2014 | Fallerini, C; Dosa, L; Tita, R; Del Prete, D; Feriozzi, S; Gai, G; Clementi, M; La Manna, A; Miglietti, N; Mancini, R; Mandrile, G; Ghiggeri, Gm; Piaggio, G; Brancati, F; Diano, L; Frate, E; Pinciaroli, Ar; Giani, M; Castorina, P; Bresin, E; Giachino, D; De Marchi, M; Mari, F; Bruttini, M; Renieri, A; Ariani, F. | |
| Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer | 1-gen-2014 | Lattanzio, Rossano; Ghasemi, Reza; Brancati, Francesco; Sorda, R. L.; Tinari, Nicola; Perracchio, L.; Iacobelli, Stefano; Mottolese, M.; Natali, P. G.; Piantelli, Mauro | |
| Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome | 1-gen-2014 | Hussain Muhammad, Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat Mohammad, Reza; Sakakibara, Shin-Ichi; Altmüller, Janine; Thiele, Holger; Nürnberg, Gudrun; Moosa, Shahida; Yigit, Gökhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart Jill, E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Anna Noegel, Angelika; Newman William, G.; Nürnberg, Peter | |
| Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome | 1-gen-2015 | Walz, Katherina; Cohen, Devon; Neilsen, Paul M.; Foster, Joseph; Brancati, Francesco; Demir, Korcan; Fisher, Richard; Moffat, Michelle; Verbeek, Nienke E.; Bjørgo, Kathrine; Lo Castro, Adriana; Curatolo, Paolo; Novelli, Giuseppe; Abad, Clemer; Lei, Cao; Zhang, Lily; Diaz Horta, Oscar; Young, Juan I.; Callen, David F.; Tekin, Mustafa | |
| Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes | 1-gen-2015 | Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; Van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-Van Silfhout Anneke, T.; Wolfe Lynne, A.; Tifft Cynthia, J.; Zerfas Patricia, M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos Maria, G.; Lee Chyi-Chia, R.; Ferraz, Victor; Da Silva Eduarda, Morgana; Stevens Cathy, A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks Brian, P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos Feliciano, J.; Chung Hon-Yin, Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk Witold, K.; Mazzanti, Laura; Brunner Han, G.; Bakkers, Jeroen; Lin, Shuo; Malicdan May Christine, V.; Boerkoel Cornelius, F.; Gahl William, A.; De Vries Bert, B. A.; Van Haelst Mieke, M.; Zenker, Martin; Markello Thomas, C. |
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