Sfoglia per Autore
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
2004 De Luca, A.; Annalisa, Schirinzi; Anna, Buccino; Bottillo, Irene; Lorenzo, Sinibaldi; Isabella, Torrente; Angela, Ciavarella; Tania, Dottorini; Roberto, Porciello; Giustini, Sandra; Calvieri, Stefano; DALLA PICCOLA, Bruno
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
2005 De Luca, A.; Bottillo, I.; Sarkozy, C.; Carta, C.; Neri, C.; Bellacchio, E.; Schirinzi, A.; Conti, E.; Zampino, G.; Battaglia, A.; Majore, S.; Rinaldi, M. M.; Carella, M.; MARINO TAUSSIG DE BODONIA, Bruno; Pizzuti, Antonio; Digilio, M. C.; Tartaglia, M.; DALLA PICCOLA, Bruno
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
2007 A., De Luca; M. C., Dasdia; A., Morella; V., Lanari; L., Bernardini; Divona, Luigina; Giustini, Sandra; L., Sinibaldi; A., Novelli; I., Torrente; A., Schirinzi; DALLA PICCOLA, Bruno; Bottillo, Irene
Functional analysis of splicing mutations in exon 7 of NFI gene
2007 Bottillo, I.; De Luca, A.; Schirinzi, A.; Guida, V.; Torrente, I.; Calvieri, Stefano; Gervasini, C.; Larizza, L.; Pizzuti, Antonio; DALLA PICCOLA, Bruno
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
2007 Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; DE LUCA, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; DALLA PICCOLA, Bruno
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF
2008 Carbone, A; Bernardini, L; Valenzano, F; Bottillo, Irene; De Simone, C; Capizzi, R; Capalbo, A; Romano, F; Novelli, A; Dallapiccola, B; Amerio, P.
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
2008 Bernardini, L; Palka, C; Ceccarini, C; Capalbo, A; Bottillo, Irene; Mingarelli, R; Novelli, A; Dallapiccola, B.
RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A
2008 Ahlquist, T; Bottillo, Irene; Danielsen, Sa; Meling, Gi; Rognum, To; Lind, Ge; Dallapiccola, B; Lothe, Ra
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours
2009 Bottillo, Irene; Ahlquist, T; Brekke, H; Danielsen, Sa; van den Berg, E; Mertens, F; Lothe, Ra; Dallapiccola, B.
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication
2009 Bernardini, L; Sinibaldi, L; Capalbo, A; Bottillo, Irene; Mancuso, B; Torres, B; Novelli, A; Digilio, Mc; Dallapiccola, B.
Innovazioni tecnologiche per lo studio della complessità del genoma umano
2009 Bottillo, Irene
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
2010 Laura, Bernardini; Viola, Alesi; Sara, Loddo; Antonio, Novelli; Bottillo, Irene; Agatino, Battaglia; Maria Cristina Digilio, ; Giuseppe, Zampino; Adam, Ertel; Fortina, Paolo; Saul, Surrey; Bruno, Dallapiccola
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy
2010 Sinibaldi, L; Harifi, G; Bottillo, Irene; Iannicelli, M; El Hassani, S; Brancati, F; Dallapiccola, B.
Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion
2010 Bottillo, Irene; Isabella, Torrente; Valentina, Lanari; Valentina, Pinna; Giustini, Sandra; Luigina, Divona; Alessandro De, Luca; Bruno, Dallapiccola
TBX2 gene duplication associated with complex heart defect and skeletal malformations
2010 Radio, Fc; Bernardini, L; Loddo, S; Bottillo, Irene; Novelli, A; Mingarelli, R; Dallapiccola, B.
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
2010 Francesco, Brancati; Paola, Fortugno; Bottillo, Irene; Marc, Lopez; Emmanuelle, Josselin; Omar Boudghene Stambouli, ; Emanuele, Agolini; Laura, Bernardini; Emanuele, Bellacchio; Miriam, Iannicelli; Rossi, Alfredo; Amina Dib Lachachi, ; Liborio, Stuppia; Giandomenico, Palka; Stefan, Mundlos; Sigmar, Stricker; Uwe, Kornak; Giovanna, Zambruno; Bruno, Dallapiccola
Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency
2010 Luigetti, M.; Pizzuti, Antonio; Bartoletti, S.; Houlden, H.; Pirro, Cristina; Bottillo, I.; Madia, F.; Conte, A.; Tonali, P. A.; Sabatelli, M.; Bottillo, Irene
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1
2011 Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion
2011 Pizzuti, Antonio; Bottillo, Irene; Inzana, Francesca; Lanari, Valentina; Buttarelli, Francesca Romana; Torrente, Isabella; Giallonardo, Anna Teresa; Luca, Alessandro; De Luca, A.; Dallapiccola, Bruno
Pharmacogenetics in the era of next generation sequencing
2013 Bottillo, Irene; Morrone, A; Grammatico, Paola
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. | 2004 | De Luca, A.; Annalisa, Schirinzi; Anna, Buccino; Bottillo, Irene; Lorenzo, Sinibaldi; Isabella, Torrente; Angela, Ciavarella; Tania, Dottorini; Roberto, Porciello; Giustini, Sandra; Calvieri, Stefano; DALLA PICCOLA, Bruno | |
| NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome | 2005 | De Luca, A.; Bottillo, I.; Sarkozy, C.; Carta, C.; Neri, C.; Bellacchio, E.; Schirinzi, A.; Conti, E.; Zampino, G.; Battaglia, A.; Majore, S.; Rinaldi, M. M.; Carella, M.; MARINO TAUSSIG DE BODONIA, Bruno; Pizzuti, Antonio; Digilio, M. C.; Tartaglia, M.; DALLA PICCOLA, Bruno | |
| Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification | 2007 | A., De Luca; M. C., Dasdia; A., Morella; V., Lanari; L., Bernardini; Divona, Luigina; Giustini, Sandra; L., Sinibaldi; A., Novelli; I., Torrente; A., Schirinzi; DALLA PICCOLA, Bruno; Bottillo, Irene | |
| Functional analysis of splicing mutations in exon 7 of NFI gene | 2007 | Bottillo, I.; De Luca, A.; Schirinzi, A.; Guida, V.; Torrente, I.; Calvieri, Stefano; Gervasini, C.; Larizza, L.; Pizzuti, Antonio; DALLA PICCOLA, Bruno | |
| Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes | 2007 | Sarkozy, A; Schirinzi, A; Lepri, F; Bottillo, I; DE LUCA, A; Pizzuti, Antonio; Tartaglia, M; Digilio, Mc; DALLA PICCOLA, Bruno | |
| Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF | 2008 | Carbone, A; Bernardini, L; Valenzano, F; Bottillo, Irene; De Simone, C; Capizzi, R; Capalbo, A; Romano, F; Novelli, A; Dallapiccola, B; Amerio, P. | |
| Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes | 2008 | Bernardini, L; Palka, C; Ceccarini, C; Capalbo, A; Bottillo, Irene; Mingarelli, R; Novelli, A; Dallapiccola, B. | |
| RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A | 2008 | Ahlquist, T; Bottillo, Irene; Danielsen, Sa; Meling, Gi; Rognum, To; Lind, Ge; Dallapiccola, B; Lothe, Ra | |
| Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours | 2009 | Bottillo, Irene; Ahlquist, T; Brekke, H; Danielsen, Sa; van den Berg, E; Mertens, F; Lothe, Ra; Dallapiccola, B. | |
| HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication | 2009 | Bernardini, L; Sinibaldi, L; Capalbo, A; Bottillo, Irene; Mancuso, B; Torres, B; Novelli, A; Digilio, Mc; Dallapiccola, B. | |
| Innovazioni tecnologiche per lo studio della complessità del genoma umano | 2009 | Bottillo, Irene | |
| High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? | 2010 | Laura, Bernardini; Viola, Alesi; Sara, Loddo; Antonio, Novelli; Bottillo, Irene; Agatino, Battaglia; Maria Cristina Digilio, ; Giuseppe, Zampino; Adam, Ertel; Fortina, Paolo; Saul, Surrey; Bruno, Dallapiccola | |
| A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy | 2010 | Sinibaldi, L; Harifi, G; Bottillo, Irene; Iannicelli, M; El Hassani, S; Brancati, F; Dallapiccola, B. | |
| Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion | 2010 | Bottillo, Irene; Isabella, Torrente; Valentina, Lanari; Valentina, Pinna; Giustini, Sandra; Luigina, Divona; Alessandro De, Luca; Bruno, Dallapiccola | |
| TBX2 gene duplication associated with complex heart defect and skeletal malformations | 2010 | Radio, Fc; Bernardini, L; Loddo, S; Bottillo, Irene; Novelli, A; Mingarelli, R; Dallapiccola, B. | |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome | 2010 | Francesco, Brancati; Paola, Fortugno; Bottillo, Irene; Marc, Lopez; Emmanuelle, Josselin; Omar Boudghene Stambouli, ; Emanuele, Agolini; Laura, Bernardini; Emanuele, Bellacchio; Miriam, Iannicelli; Rossi, Alfredo; Amina Dib Lachachi, ; Liborio, Stuppia; Giandomenico, Palka; Stefan, Mundlos; Sigmar, Stricker; Uwe, Kornak; Giovanna, Zambruno; Bruno, Dallapiccola | |
| Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency | 2010 | Luigetti, M.; Pizzuti, Antonio; Bartoletti, S.; Houlden, H.; Pirro, Cristina; Bottillo, I.; Madia, F.; Conte, A.; Tonali, P. A.; Sabatelli, M.; Bottillo, Irene | |
| Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 | 2011 | Ruggieri, Martino; Mastrangelo, Mario; Spalice, Albert; Mariani, Rosanna; Torrente, Isabella; Polizzi, Agata; Bottillo, Irene; Di Biase, Claudio; Iannetti, Paola | |
| Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion | 2011 | Pizzuti, Antonio; Bottillo, Irene; Inzana, Francesca; Lanari, Valentina; Buttarelli, Francesca Romana; Torrente, Isabella; Giallonardo, Anna Teresa; Luca, Alessandro; De Luca, A.; Dallapiccola, Bruno | |
| Pharmacogenetics in the era of next generation sequencing | 2013 | Bottillo, Irene; Morrone, A; Grammatico, Paola |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile