Sfoglia per Autore
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.
Joubert Syndrome and related disorders.
2010-01-01 Brancati, F.; Dallapiccola, B.; Valente, E. M.
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
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.
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
2010-01-01 Cm, Louie; G, Caridi; Vs, Lopes; Brancati, Francesco; A, Kispert; Ma, Lancaster; Am, Schlossman; Ea, Otto; M, Leitges; H, Gröne; I, Lopez; Hv, Gudiseva; Jf, O'Toole; E, Vallespin; R, Ayyagari; C, Ayuso; Fp, M; Ai, Den; Rk, Koenekoop; B, Dallapiccola; Gm, Ghiggeri; F, Hildebrandt; Em, Valente; Ds, Williams; Jg, Gleeson
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.
2010-01-01 Palka, Chiara; Giuliani, Rossella; Brancati, Francesco; MOHN Angelika, Anna; Di Muzio, A; Calabrese, O; Huebner, A; De Grandis, D; Chiarelli, Francesco; Ferlini, A; Stuppia, Liborio
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.
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.
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.
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.
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity.
2011-01-01 Harifi, G.; Brancati, F.; Dallapicola, B.; Hassani, S. E.
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.
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.
Clinical utility gene card for: Joubert syndrome
2011-01-01 Maria Valente, Enza; Brancati, Francesco; Boltshauser, Eugen; Dallapiccola, Bruno
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
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
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus.
2012-01-01 Spielmann, M; Brancati, F; Krawitz, Pm; Robinson, Pn; Ibrahim, Dm; Franke, M; Hecht, J; Lohan, S; Dathe, K; Nardone, Am; Ferrari, P; Landi, A; Wittler, L; Timmermann, B; Chan, D; Mennen, U; Klopocki, E; 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.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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. | |
| Joubert Syndrome and related disorders. | 1-gen-2010 | Brancati, F.; Dallapiccola, B.; Valente, E. M. | |
| 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 | |
| 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. | |
| AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. | 1-gen-2010 | Cm, Louie; G, Caridi; Vs, Lopes; Brancati, Francesco; A, Kispert; Ma, Lancaster; Am, Schlossman; Ea, Otto; M, Leitges; H, Gröne; I, Lopez; Hv, Gudiseva; Jf, O'Toole; E, Vallespin; R, Ayyagari; C, Ayuso; Fp, M; Ai, Den; Rk, Koenekoop; B, Dallapiccola; Gm, Ghiggeri; F, Hildebrandt; Em, Valente; Ds, Williams; Jg, Gleeson | |
| Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. | 1-gen-2010 | Palka, Chiara; Giuliani, Rossella; Brancati, Francesco; MOHN Angelika, Anna; Di Muzio, A; Calabrese, O; Huebner, A; De Grandis, D; Chiarelli, Francesco; Ferlini, A; Stuppia, Liborio | |
| 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. | |
| 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. | |
| 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. | |
| 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. | |
| Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. | 1-gen-2011 | Harifi, G.; Brancati, F.; Dallapicola, B.; Hassani, S. E. | |
| 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. | |
| 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. | |
| Clinical utility gene card for: Joubert syndrome | 1-gen-2011 | Maria Valente, Enza; Brancati, Francesco; Boltshauser, Eugen; Dallapiccola, Bruno | |
| 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 | |
| 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 | |
| Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. | 1-gen-2012 | Spielmann, M; Brancati, F; Krawitz, Pm; Robinson, Pn; Ibrahim, Dm; Franke, M; Hecht, J; Lohan, S; Dathe, K; Nardone, Am; Ferrari, P; Landi, A; Wittler, L; Timmermann, B; Chan, D; Mennen, U; Klopocki, E; 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. |
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