Sfoglia per Autore
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.
2010-01-01 Sinibaldi, L.; Harifi, G.; Bottillo, I.; Iannicelli, M.; Hassani, Se.; Brancati, F.; Dallapiccola, B.
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
2010-01-01 Parri, V.; Katzaki, E.; Uliana, V.; Scionti, F.; Tita, R.; Artuso, R.; Longo, I.; Boschloo, R.; Vijzelaar, R.; Selicorni, A.; Brancati, F.; Dallapiccola, B.; Zelante, L.; Hamel, C. P.; Sarda, P.; Lalani, S. R.; Grasso, R.; Buoni, S.; Hayek, J.; Servais, L.; B. A., B.; Georgoudi, N.; Nakou, S.; Petersen, M. B.; Mari, F.; Renieri, A.; Ariani, F.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
2010-01-01 Iannicelli, M; Brancati, F; Mougou-Zerelli, S; Mazzotta, A; Thomas, S; Elkhartoufi, N; Travaglini, L; Gomes, C; Ardissino, Gl; Bertini, E; Boltshauser, E; Castorina, P; D'Arrigo, S; Fischetto, R; Leroy, B; Loget, P; Bonnière, M; Starck, L; Tantau, J; Gentilin, B; Majore, S; Swistun, D; Flori, E; Lalatta, F; Pantaleoni, C; Penzien, J; Grammatico, P; Study Group, Jsrd; Dallapiccola, B; Gleeson, Jg; Attie-Bitach, T; Valente, Em
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
2010-01-01 Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
2010-01-01 Kornak, U.; Brancati, F.; Merrer, M. L.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P.
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
2010-01-01 Valente, Em; Logan, Cv; Mougou-Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, F; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, Je; Tolentino, Jc; Swistun, D; Salpietro, Cd; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, Ea; Held, S; Diplas, Bh; Davis, Ee; Mikula, M; Strom, Cm; Ben-Zeev, B; Lev, D; Sagie, Tl; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, Ca; Attié-Bitach, T; Gleeson, Jg
Clinical and laboratory phenotype associated with the aspirin-like defect.
2010-01-01 Dragani, A; Brancati, F; Pascale, S; Mattoscio, D; Rocca, B
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity.
2011-01-01 Harifi, G.; Brancati, F.; Dallapicola, B.; Hassani, S. E.
Clinical utility gene card for: Joubert syndrome
2011-01-01 Maria Valente, Enza; Brancati, Francesco; Boltshauser, Eugen; Dallapiccola, Bruno
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report.
2011-01-01 Pisani, V.; Nicoletti, A.; Meschini, A.; Marziali, S.; Garaci, F. G.; Brancati, F.; Zappia, M.; Stanzione, P.; Pisani, A.
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
2011-01-01 Martinelli, D.; Häberle, J.; Rubio, V.; Giunta, C.; Hausser, I.; Carrozzo, R.; Gougeard, N.; Marco-Marín, C.; Goffredo, B. M.; Meschini, M. C.; Bevivino, E.; Boenzi, S.; Colafati, G. S.; Brancati, F.; Baumgartner, M. R.; Dionisi-Vici, C.
Primary focal hyperhidrosis in a new family not linked to known Loci.
2011-01-01 Del Sorbo, F; Brancati, F; De Joanna, G; Valente, Em; Lauria, G; Albanese, A
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
2011-01-01 Sirmaci, A.; Spiliopoulos, M.; Brancati, F.; Powell, E.; Duman, D.; Abrams, A.; Bademci, G.; Agolini, E.; Guo, S.; Konuk, B.; Kavaz, A.; Blanton, S.; Digilio, M. C.; Dallapiccola, B.; Young, J.; Zuchner, S.; Tekin, M.
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.
2011-01-01 Castori, M.; Castiglia, D.; Brancati, F.; Foglio, M.; Heath, S.; Floriddia, G.; Madonna, S.; Fischer, J.; Zambruno, G.
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
2011-01-01 Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; C. W., V.; Chan, W.; Chan, D.; Mundlos, S.
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
2012-01-01 Poretti, A.; Vitiello, G.; C. M., R.; Arrigoni, F.; Bertini, E.; Borgatti, R.; Brancati, F.; D'Arrigo, S.; Faravelli, F.; Giordano, L.; A. G., T.; Iannicelli, M.; Kluger, G.; Kyllerman, M.; Landgren, M.; Lees, M. M.; Pinelli, L.; Romaniello, R.; Scheer, I.; Schwarz, C. E.; Spiegel, R.; Tibussek, D.; Valente, E. M.; Boltshauser, E.
Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press.
2012-01-01 Brancati, Francesco
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
2012-01-01 Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié-Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Em; Gleeson, Jg
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.
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
2012-01-01 C. P., Diggle; D. A., Parry; C. V., Logan; P., Laissue; C., Rivera; C. M., Restrepo; D. J., Fonseca; J. E., Morgan; Y., Allanore; M., Fontenay; J., Wipff; M., Varret; L., Gibault; N., Dalantaeva; M., Korbonits; B., Zhou; G., Yuan; G., Harifi; K., Cefle; S., Palanduz; H., Akoglu; P. J., Zwijnenburg; K. D., Lichtenbelt; B., Aubry-Rozier; A., Superti-Furga; B., Dallapiccola; M., Accadia; Brancati, F.; E. G., Sheridan; G. R., Taylor; I. M., Carr; C. A., Johnson; A. F., Markham; D. T., Bonthron
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. | 1-gen-2010 | Sinibaldi, L.; Harifi, G.; Bottillo, I.; Iannicelli, M.; Hassani, Se.; Brancati, F.; Dallapiccola, B. | |
| High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. | 1-gen-2010 | Parri, V.; Katzaki, E.; Uliana, V.; Scionti, F.; Tita, R.; Artuso, R.; Longo, I.; Boschloo, R.; Vijzelaar, R.; Selicorni, A.; Brancati, F.; Dallapiccola, B.; Zelante, L.; Hamel, C. P.; Sarda, P.; Lalani, S. R.; Grasso, R.; Buoni, S.; Hayek, J.; Servais, L.; B. A., B.; Georgoudi, N.; Nakou, S.; Petersen, M. B.; Mari, F.; Renieri, A.; Ariani, F. | |
| Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. | 1-gen-2010 | Iannicelli, M; Brancati, F; Mougou-Zerelli, S; Mazzotta, A; Thomas, S; Elkhartoufi, N; Travaglini, L; Gomes, C; Ardissino, Gl; Bertini, E; Boltshauser, E; Castorina, P; D'Arrigo, S; Fischetto, R; Leroy, B; Loget, P; Bonnière, M; Starck, L; Tantau, J; Gentilin, B; Majore, S; Swistun, D; Flori, E; Lalatta, F; Pantaleoni, C; Penzien, J; Grammatico, P; Study Group, Jsrd; Dallapiccola, B; Gleeson, Jg; Attie-Bitach, T; Valente, Em | |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. | 1-gen-2010 | Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B | |
| Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. | 1-gen-2010 | Kornak, U.; Brancati, F.; Merrer, M. L.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P. | |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. | 1-gen-2010 | Valente, Em; Logan, Cv; Mougou-Zerelli, S; Lee, Jh; Silhavy, Jl; Brancati, F; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, Je; Tolentino, Jc; Swistun, D; Salpietro, Cd; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, Ea; Held, S; Diplas, Bh; Davis, Ee; Mikula, M; Strom, Cm; Ben-Zeev, B; Lev, D; Sagie, Tl; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, Ca; Attié-Bitach, T; Gleeson, Jg | |
| Clinical and laboratory phenotype associated with the aspirin-like defect. | 1-gen-2010 | Dragani, A; Brancati, F; Pascale, S; Mattoscio, D; Rocca, B | |
| Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. | 1-gen-2011 | Harifi, G.; Brancati, F.; Dallapicola, B.; Hassani, S. E. | |
| Clinical utility gene card for: Joubert syndrome | 1-gen-2011 | Maria Valente, Enza; Brancati, Francesco; Boltshauser, Eugen; Dallapiccola, Bruno | |
| Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. | 1-gen-2011 | Pisani, V.; Nicoletti, A.; Meschini, A.; Marziali, S.; Garaci, F. G.; Brancati, F.; Zappia, M.; Stanzione, P.; Pisani, A. | |
| Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. | 1-gen-2011 | Martinelli, D.; Häberle, J.; Rubio, V.; Giunta, C.; Hausser, I.; Carrozzo, R.; Gougeard, N.; Marco-Marín, C.; Goffredo, B. M.; Meschini, M. C.; Bevivino, E.; Boenzi, S.; Colafati, G. S.; Brancati, F.; Baumgartner, M. R.; Dionisi-Vici, C. | |
| Primary focal hyperhidrosis in a new family not linked to known Loci. | 1-gen-2011 | Del Sorbo, F; Brancati, F; De Joanna, G; Valente, Em; Lauria, G; Albanese, A | |
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. | 1-gen-2011 | Sirmaci, A.; Spiliopoulos, M.; Brancati, F.; Powell, E.; Duman, D.; Abrams, A.; Bademci, G.; Agolini, E.; Guo, S.; Konuk, B.; Kavaz, A.; Blanton, S.; Digilio, M. C.; Dallapiccola, B.; Young, J.; Zuchner, S.; Tekin, M. | |
| Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. | 1-gen-2011 | Castori, M.; Castiglia, D.; Brancati, F.; Foglio, M.; Heath, S.; Floriddia, G.; Madonna, S.; Fischer, J.; Zambruno, G. | |
| Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. | 1-gen-2011 | Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; C. W., V.; Chan, W.; Chan, D.; Mundlos, S. | |
| Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. | 1-gen-2012 | Poretti, A.; Vitiello, G.; C. M., R.; Arrigoni, F.; Bertini, E.; Borgatti, R.; Brancati, F.; D'Arrigo, S.; Faravelli, F.; Giordano, L.; A. G., T.; Iannicelli, M.; Kluger, G.; Kyllerman, M.; Landgren, M.; Lees, M. M.; Pinelli, L.; Romaniello, R.; Scheer, I.; Schwarz, C. E.; Spiegel, R.; Tibussek, D.; Valente, E. M.; Boltshauser, E. | |
| Cerebellar Disorders in Children. 2012 eds. Chapter11: Joubert Syndrome and Related Disorders. Mac Keith Press. | 1-gen-2012 | Brancati, Francesco | |
| CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. | 1-gen-2012 | Lee, Je; Silhavy, Jl; Zaki, Ms; Schroth, J; Bielas, Sl; Marsh, Se; Olvera, J; Brancati, F; Iannicelli, M; Ikegami, K; Schlossman, Am; Merriman, B; Attié-Bitach, T; Logan, Cv; Glass, Ia; Cluckey, A; Louie, Cm; Lee, Jh; Raynes, Hr; Rapin, I; Castroviejo, Ip; Setou, M; Barbot, C; Boltshauser, E; Nelson, Sf; Hildebrandt, F; Johnson, Ca; Doherty, Da; Valente, Em; Gleeson, Jg | |
| 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. | |
| Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. | 1-gen-2012 | C. P., Diggle; D. A., Parry; C. V., Logan; P., Laissue; C., Rivera; C. M., Restrepo; D. J., Fonseca; J. E., Morgan; Y., Allanore; M., Fontenay; J., Wipff; M., Varret; L., Gibault; N., Dalantaeva; M., Korbonits; B., Zhou; G., Yuan; G., Harifi; K., Cefle; S., Palanduz; H., Akoglu; P. J., Zwijnenburg; K. D., Lichtenbelt; B., Aubry-Rozier; A., Superti-Furga; B., Dallapiccola; M., Accadia; Brancati, F.; E. G., Sheridan; G. R., Taylor; I. M., Carr; C. A., Johnson; A. F., Markham; D. T., Bonthron |
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