Sfoglia per Afferenza Dipartimento di Scienze cliniche applicate e biotecnologiche
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
2021-01-01 Dworschak, G. C.; Punetha, J.; Kalanithy, J. C.; Mingardo, E.; Erdem, H. B.; Akdemir, Z. C.; Karaca, E.; Mitani, T.; Marafi, D.; Fatih, J. M.; Jhangiani, S. N.; Hunter, J. V.; Dakal, T. C.; Dhabhai, B.; Dabbagh, O.; Alsaif, H. S.; Alkuraya, F. S.; Maroofian, R.; Houlden, H.; Efthymiou, S.; Dominik, N.; Salpietro, Vincenzo; Sultan, T.; Haider, S.; Bibi, F.; Thiele, H.; Hoefele, J.; Riedhammer, K. M.; Wagner, M.; Guella, I.; Demos, M.; Keren, B.; Buratti, J.; Charles, P.; Nava, C.; Heron, D.; Heide, S.; Valkanas, E.; Waddell, L. B.; Jones, K. J.; Oates, E. C.; Cooper, S. T.; Macarthur, D.; Syrbe, S.; Ziegler, A.; Platzer, K.; Okur, V.; Chung, W. K.; O'Shea, S. A.; Alcalay, R.; Fahn, S.; Mark, P. R.; Guerrini, R.; Vetro, A.; Hudson, B.; Schnur, R. E.; Hoganson, G. E.; Burton, J. E.; Mcentagart, M.; Lindenberg, T.; Yilmaz, O.; Odermatt, B.; Pehlivan, D.; Posey, J. E.; Lupski, J. R.; Reutter, H.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
2023-01-01 Cali, E.; Suri, M.; Scala, M.; Ferla, M. P.; Alavi, S.; Faqeih, E. A.; Bijlsma, E. K.; Wigby, K. M.; Baralle, D.; Mehrjardi, M. Y. V.; Schwab, J.; Platzer, K.; Steindl, K.; Hashem, M.; Jones, M.; Niyazov, D. M.; Jacober, J.; Littlejohn, R. O.; Weis, D.; Zadeh, N.; Rodan, L.; Goldenberg, A.; Lecoquierre, F.; Dutra-Clarke, M.; Horvath, G.; Young, D.; Orenstein, N.; Bawazeer, S.; Vulto-van Silfhout, A. T.; Herenger, Y.; Dehghani, M.; Seyedhassani, S. M.; Bahreini, A.; Nasab, M. E.; Ercan-Sencicek, A. G.; Firoozfar, Z.; Movahedinia, M.; Efthymiou, S.; Striano, P.; Karimiani, E. G.; Salpietro, Vincenzo; Taylor, J. C.; Redman, M.; Stegmann, A. P. A.; Laner, A.; Abdel-Salam, G.; Li, M.; Bengala, M.; Muller, A. J.; Digilio, M. C.; Rauch, A.; Gunel, M.; Titheradge, H.; Schweitzer, D. N.; Kraus, A.; Valenzuela, I.; Mclean, S. D.; Phornphutkul, C.; Salih, M.; Begtrup, A.; Schnur, R. E.; Torti, E.; Haack, T. B.; Prada, C. E.; Alkuraya, F. S.; Houlden, H.; Maroofian, R.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021-01-01 Wiessner, M.; Maroofian, R.; M. -Y., Ni; Pedroni, A.; Muller, J. S.; Stucka, R.; Beetz, C.; Efthymiou, S.; Santorelli, F. M.; Alfares, A. A.; Zhu, C.; Uhrova Meszarosova, A.; Alehabib, E.; Bakhtiari, S.; Janecke, A. R.; Otero, M. G.; Chen, J. Y. H.; Peterson, J. T.; Strom, T. M.; De Jonghe, P.; Deconinck, T.; De Ridder, W.; De Winter, J.; Pasquariello, R.; Ricca, I.; Alfadhel, M.; Van De Warrenburg, B. P.; Portier, R.; Bergmann, C.; Ghasemi Firouzabadi, S.; Jin, S. C.; Bilguvar, K.; Hamed, S.; Abdelhameed, M.; Haridy, N. A.; Maqbool, S.; Rahman, F.; Anwar, N.; Carmichael, J.; Pagnamenta, A.; Wood, N. W.; Tran Mau-Them, F.; Haack, T.; Di Rocco, M.; Ceccherini, I.; Iacomino, M.; Zara, F.; Salpietro, Vincenzo; Scala, M.; Rusmini, M.; Xu, Y.; Wang, Y.; Suzuki, Y.; Koh, K.; Nan, H.; Ishiura, H.; Tsuji, S.; Lambert, L.; Schmitt, E.; Lacaze, E.; Kupper, H.; Dredge, D.; Skraban, C.; Goldstein, A.; Willis, M. J. H.; Grand, K.; Graham, J. M.; Lewis, R. A.; Millan, F.; Duman, O.; Dundar, N.; Uyanik, G.; Schols, L.; Nurnberg, P.; Nurnberg, G.; Catala Bordes, A.; Seeman, P.; Kuchar, M.; Darvish, H.; Rebelo, A.; Boucanova, F.; Medard, J. -J.; Chrast, R.; Auer-Grumbach, M.; Alkuraya, F. S.; Shamseldin, H.; Al Tala, S.; Rezazadeh Varaghchi, J.; Najafi, M.; Deschner, S.; Glaser, D.; Huttel, W.; Kruer, M. C.; Kamsteeg, E. -J.; Takiyama, Y.; Zuchner, S.; Baets, J.; Synofzik, M.; Schule, R.; Horvath, R.; Houlden, H.; Bartesaghi, L.; Lee, H. -J.; Ampatzis, K.; Pierson, T. M.; Senderek, J.
Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum
2021-01-01 Riva, A.; Gambadauro, A.; Dipasquale, V.; Casto, C.; Ceravolo, M. D.; Accogli, A.; Scala, M.; Ceravolo, G.; Iacomino, M.; Zara, F.; Striano, P.; Cuppari, C.; Di Rosa, G.; Cutrupi, M. C.; Salpietro, Vincenzo; Chimenz, R.
Biased M1 muscarinic receptor mutant mice show accelerated progression of prion neurodegenerative disease
2021-01-01 Scarpa, M.; Molloy, C.; Jenkins, L.; Strellis, B.; Budgett, R. F.; Hesse, S.; Dwomoh, L.; Marsango, S.; Tejeda, G. S.; Rossi, M.; Ahmed, Z.; Milligan, G.; Hudson, B. D.; Tobin, A. B.; Bradley, S. J.
Biased M1-muscarinic-receptor-mutant mice inform the design of next-generation drugs
2020-01-01 Bradley, S J; Molloy, C; Valuskova, P; Dwomoh, L; Scarpa, M; Rossi, M; Finlayson, L; Svensson, K A; Chernet, E; Barth, V N; Gherbi, K; Sykes, D A; Wilson, C A; Mistry, R; Sexton, P M; Christopoulos, A; Mogg, A J; Rosethorne, E M; Sakata, S; Challiss, R A J; Broad, L M; Tobin, A B
Bicalutamide before surgery reduces positive margins and modified the molecular arrangement of prostate cancer
2006-01-01 Gravina, GIOVANNI LUCA; PARADISO GALATIOTO, Giuseppe; Muzi, P; Pomante, R; Angelucci, A; Ronchi, P; Costa, A. M.; Festuccia, C; Bologna, M; Vicentini, Carlo
Bicalutamide Demonstrates Biologic Effectiveness in Prostate Cancer Cell Lines and Tumor Primary Cultures Irrespective of Her2/neu Expression Levels
2009-01-01 Gravina, GIOVANNI LUCA; Festuccia, C; Millimaggi, D; Tombolini, V; Dolo, Vincenza; Vicentini, Carlo; Bologna, Mauro
Bicalutamide dose-dependently inhibits proliferation in human prostatic carcinoma cell lines and primary cultures
2002-01-01 Vicentini, Carlo; Festuccia, C; Angelucci, Adriano; Gravina, GIOVANNI LUCA; Muzi, P; Eleuterio, E; Miano, R; Marronaro, A; Tubaro, A; Bologna, Mauro
Bicalutamide increases phospho-Akt levels through Her2 in patients with prostate cancer
2007-01-01 Festuccia, C; Gravina, GIOVANNI LUCA; Muzi, P; Pomante, R; Ventura, L; Vessella, Rl; Vicentini, Carlo; Bologna, Mauro
A bicentric propensity score matching study comparing percutaneous computed tomography-guided radiofrequency Ablation to Magnetic Resonance-guided Focused Ultrasounds for the treatment of osteoid osteoma
2021-01-01 Arrigoni, Francesco; Spiliopoulos, Stavros; de Cataldo, Camilla; Reppas, Lazaros; Palumbo, Pierpaolo; Mazioti, Argyro; Bruno, Federico; Zugaro, Luigi; Papakonstantinou, Olympia; Barile, Antonio; Kelekis, Alexis; Masciocchi, Carlo; Filippiadis, Dimitrios
Bilateral 5 Hz transcranial alternating current stimulation on frontooral areas modulates resting-state EEG
2017-01-01 D'Atri, Aurora; Romano, Claudia; Gorgoni, Maurizio; Scarpelli, Serena; Alfonsi, Valentina; Ferrara, Michele; Ferlazzo, Fabio; Rossini, Paolo Maria; De Gennaro, Luigi
Bilateral fabella in the mummy of the Blessed Jean Bassand (c. 1360–1445): A unique description in ancient human remains
2021-01-01 Ventura, Luca; Bruno, Federico; Barile, Antonio; Masciocchi, Carlo
Bilateral MRgFUS thalamotomy for tremor: A safe solution? Case report and review of current insights
2020-01-01 Bruno, F.; Catalucci, A.; Varrassi, M.; Arrigoni, F.; Gagliardi, A.; Sucapane, P.; Cerone, D.; Pistoia, F.; Ricci, A.; Marini, C.; Masciocchi, C.
Bilateral nephrectomy as an emergency or elective operation.
1984-01-01 V., Boffo; B., Baroni; S., Verardi; Pisani, Francesco; C. U., Casciani
Bilateral perysilvian polymicrogyria in Chiari I malformation
2006-01-01 Spalice, Alberto; Parisi, Pasquale; Mastrangelo, Mario; Luca, Francesca; Verrotti, Alberto; Iannetti, Paola
Bilateral suprascapular nerve entrapment by glenoid labral cysts associated with rotator cuff damage and posterior instability in an amateur weightlifter
2010-01-01 Limbucci, N; Rossi, F; Salvati, F; Pistoia, Lm; Barile, Antonio; Masciocchi, Carlo
Bilateral theta transcranial alternating current stimulation (tacs) modulates EEG activity: When tACS works awake it also works asleep
2019-01-01 D'Atri, A.; Scarpelli, S.; Gorgoni, M.; Alfonsi, V.; Annarumma, L.; Giannini, A. M.; Ferrara, M.; Ferlazzo, F.; Rossini, P. M.; De Gennaro, L.
Biliary penetration of some cephalosporins in patients with or without hepato-billary disease
1987-01-01 Basoli, A; Fiocca, F; Schietroma, Mario; de Santis, A; Lomanto, D; Colella, A. Speranza V.
Biliary pseudocyst. A rare consequence of an iatrogenic lesion of the bile ducts
1988-01-01 Fiocca, F; Schietroma, Mario; De Santis, A; Basoli, A; Zechini, F; Speranza, V.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies | 1-gen-2021 | Dworschak, G. C.; Punetha, J.; Kalanithy, J. C.; Mingardo, E.; Erdem, H. B.; Akdemir, Z. C.; Karaca, E.; Mitani, T.; Marafi, D.; Fatih, J. M.; Jhangiani, S. N.; Hunter, J. V.; Dakal, T. C.; Dhabhai, B.; Dabbagh, O.; Alsaif, H. S.; Alkuraya, F. S.; Maroofian, R.; Houlden, H.; Efthymiou, S.; Dominik, N.; Salpietro, Vincenzo; Sultan, T.; Haider, S.; Bibi, F.; Thiele, H.; Hoefele, J.; Riedhammer, K. M.; Wagner, M.; Guella, I.; Demos, M.; Keren, B.; Buratti, J.; Charles, P.; Nava, C.; Heron, D.; Heide, S.; Valkanas, E.; Waddell, L. B.; Jones, K. J.; Oates, E. C.; Cooper, S. T.; Macarthur, D.; Syrbe, S.; Ziegler, A.; Platzer, K.; Okur, V.; Chung, W. K.; O'Shea, S. A.; Alcalay, R.; Fahn, S.; Mark, P. R.; Guerrini, R.; Vetro, A.; Hudson, B.; Schnur, R. E.; Hoganson, G. E.; Burton, J. E.; Mcentagart, M.; Lindenberg, T.; Yilmaz, O.; Odermatt, B.; Pehlivan, D.; Posey, J. E.; Lupski, J. R.; Reutter, H. | |
| Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities | 1-gen-2023 | Cali, E.; Suri, M.; Scala, M.; Ferla, M. P.; Alavi, S.; Faqeih, E. A.; Bijlsma, E. K.; Wigby, K. M.; Baralle, D.; Mehrjardi, M. Y. V.; Schwab, J.; Platzer, K.; Steindl, K.; Hashem, M.; Jones, M.; Niyazov, D. M.; Jacober, J.; Littlejohn, R. O.; Weis, D.; Zadeh, N.; Rodan, L.; Goldenberg, A.; Lecoquierre, F.; Dutra-Clarke, M.; Horvath, G.; Young, D.; Orenstein, N.; Bawazeer, S.; Vulto-van Silfhout, A. T.; Herenger, Y.; Dehghani, M.; Seyedhassani, S. M.; Bahreini, A.; Nasab, M. E.; Ercan-Sencicek, A. G.; Firoozfar, Z.; Movahedinia, M.; Efthymiou, S.; Striano, P.; Karimiani, E. G.; Salpietro, Vincenzo; Taylor, J. C.; Redman, M.; Stegmann, A. P. A.; Laner, A.; Abdel-Salam, G.; Li, M.; Bengala, M.; Muller, A. J.; Digilio, M. C.; Rauch, A.; Gunel, M.; Titheradge, H.; Schweitzer, D. N.; Kraus, A.; Valenzuela, I.; Mclean, S. D.; Phornphutkul, C.; Salih, M.; Begtrup, A.; Schnur, R. E.; Torti, E.; Haack, T. B.; Prada, C. E.; Alkuraya, F. S.; Houlden, H.; Maroofian, R. | |
| Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia | 1-gen-2021 | Wiessner, M.; Maroofian, R.; M. -Y., Ni; Pedroni, A.; Muller, J. S.; Stucka, R.; Beetz, C.; Efthymiou, S.; Santorelli, F. M.; Alfares, A. A.; Zhu, C.; Uhrova Meszarosova, A.; Alehabib, E.; Bakhtiari, S.; Janecke, A. R.; Otero, M. G.; Chen, J. Y. H.; Peterson, J. T.; Strom, T. M.; De Jonghe, P.; Deconinck, T.; De Ridder, W.; De Winter, J.; Pasquariello, R.; Ricca, I.; Alfadhel, M.; Van De Warrenburg, B. P.; Portier, R.; Bergmann, C.; Ghasemi Firouzabadi, S.; Jin, S. C.; Bilguvar, K.; Hamed, S.; Abdelhameed, M.; Haridy, N. A.; Maqbool, S.; Rahman, F.; Anwar, N.; Carmichael, J.; Pagnamenta, A.; Wood, N. W.; Tran Mau-Them, F.; Haack, T.; Di Rocco, M.; Ceccherini, I.; Iacomino, M.; Zara, F.; Salpietro, Vincenzo; Scala, M.; Rusmini, M.; Xu, Y.; Wang, Y.; Suzuki, Y.; Koh, K.; Nan, H.; Ishiura, H.; Tsuji, S.; Lambert, L.; Schmitt, E.; Lacaze, E.; Kupper, H.; Dredge, D.; Skraban, C.; Goldstein, A.; Willis, M. J. H.; Grand, K.; Graham, J. M.; Lewis, R. A.; Millan, F.; Duman, O.; Dundar, N.; Uyanik, G.; Schols, L.; Nurnberg, P.; Nurnberg, G.; Catala Bordes, A.; Seeman, P.; Kuchar, M.; Darvish, H.; Rebelo, A.; Boucanova, F.; Medard, J. -J.; Chrast, R.; Auer-Grumbach, M.; Alkuraya, F. S.; Shamseldin, H.; Al Tala, S.; Rezazadeh Varaghchi, J.; Najafi, M.; Deschner, S.; Glaser, D.; Huttel, W.; Kruer, M. C.; Kamsteeg, E. -J.; Takiyama, Y.; Zuchner, S.; Baets, J.; Synofzik, M.; Schule, R.; Horvath, R.; Houlden, H.; Bartesaghi, L.; Lee, H. -J.; Ampatzis, K.; Pierson, T. M.; Senderek, J. | |
| Biallelic variants in kif17 associated with microphthalmia and coloboma spectrum | 1-gen-2021 | Riva, A.; Gambadauro, A.; Dipasquale, V.; Casto, C.; Ceravolo, M. D.; Accogli, A.; Scala, M.; Ceravolo, G.; Iacomino, M.; Zara, F.; Striano, P.; Cuppari, C.; Di Rosa, G.; Cutrupi, M. C.; Salpietro, Vincenzo; Chimenz, R. | |
| Biased M1 muscarinic receptor mutant mice show accelerated progression of prion neurodegenerative disease | 1-gen-2021 | Scarpa, M.; Molloy, C.; Jenkins, L.; Strellis, B.; Budgett, R. F.; Hesse, S.; Dwomoh, L.; Marsango, S.; Tejeda, G. S.; Rossi, M.; Ahmed, Z.; Milligan, G.; Hudson, B. D.; Tobin, A. B.; Bradley, S. J. | |
| Biased M1-muscarinic-receptor-mutant mice inform the design of next-generation drugs | 1-gen-2020 | Bradley, S J; Molloy, C; Valuskova, P; Dwomoh, L; Scarpa, M; Rossi, M; Finlayson, L; Svensson, K A; Chernet, E; Barth, V N; Gherbi, K; Sykes, D A; Wilson, C A; Mistry, R; Sexton, P M; Christopoulos, A; Mogg, A J; Rosethorne, E M; Sakata, S; Challiss, R A J; Broad, L M; Tobin, A B | |
| Bicalutamide before surgery reduces positive margins and modified the molecular arrangement of prostate cancer | 1-gen-2006 | Gravina, GIOVANNI LUCA; PARADISO GALATIOTO, Giuseppe; Muzi, P; Pomante, R; Angelucci, A; Ronchi, P; Costa, A. M.; Festuccia, C; Bologna, M; Vicentini, Carlo | |
| Bicalutamide Demonstrates Biologic Effectiveness in Prostate Cancer Cell Lines and Tumor Primary Cultures Irrespective of Her2/neu Expression Levels | 1-gen-2009 | Gravina, GIOVANNI LUCA; Festuccia, C; Millimaggi, D; Tombolini, V; Dolo, Vincenza; Vicentini, Carlo; Bologna, Mauro | |
| Bicalutamide dose-dependently inhibits proliferation in human prostatic carcinoma cell lines and primary cultures | 1-gen-2002 | Vicentini, Carlo; Festuccia, C; Angelucci, Adriano; Gravina, GIOVANNI LUCA; Muzi, P; Eleuterio, E; Miano, R; Marronaro, A; Tubaro, A; Bologna, Mauro | |
| Bicalutamide increases phospho-Akt levels through Her2 in patients with prostate cancer | 1-gen-2007 | Festuccia, C; Gravina, GIOVANNI LUCA; Muzi, P; Pomante, R; Ventura, L; Vessella, Rl; Vicentini, Carlo; Bologna, Mauro | |
| A bicentric propensity score matching study comparing percutaneous computed tomography-guided radiofrequency Ablation to Magnetic Resonance-guided Focused Ultrasounds for the treatment of osteoid osteoma | 1-gen-2021 | Arrigoni, Francesco; Spiliopoulos, Stavros; de Cataldo, Camilla; Reppas, Lazaros; Palumbo, Pierpaolo; Mazioti, Argyro; Bruno, Federico; Zugaro, Luigi; Papakonstantinou, Olympia; Barile, Antonio; Kelekis, Alexis; Masciocchi, Carlo; Filippiadis, Dimitrios | |
| Bilateral 5 Hz transcranial alternating current stimulation on frontooral areas modulates resting-state EEG | 1-gen-2017 | D'Atri, Aurora; Romano, Claudia; Gorgoni, Maurizio; Scarpelli, Serena; Alfonsi, Valentina; Ferrara, Michele; Ferlazzo, Fabio; Rossini, Paolo Maria; De Gennaro, Luigi | |
| Bilateral fabella in the mummy of the Blessed Jean Bassand (c. 1360–1445): A unique description in ancient human remains | 1-gen-2021 | Ventura, Luca; Bruno, Federico; Barile, Antonio; Masciocchi, Carlo | |
| Bilateral MRgFUS thalamotomy for tremor: A safe solution? Case report and review of current insights | 1-gen-2020 | Bruno, F.; Catalucci, A.; Varrassi, M.; Arrigoni, F.; Gagliardi, A.; Sucapane, P.; Cerone, D.; Pistoia, F.; Ricci, A.; Marini, C.; Masciocchi, C. | |
| Bilateral nephrectomy as an emergency or elective operation. | 1-gen-1984 | V., Boffo; B., Baroni; S., Verardi; Pisani, Francesco; C. U., Casciani | |
| Bilateral perysilvian polymicrogyria in Chiari I malformation | 1-gen-2006 | Spalice, Alberto; Parisi, Pasquale; Mastrangelo, Mario; Luca, Francesca; Verrotti, Alberto; Iannetti, Paola | |
| Bilateral suprascapular nerve entrapment by glenoid labral cysts associated with rotator cuff damage and posterior instability in an amateur weightlifter | 1-gen-2010 | Limbucci, N; Rossi, F; Salvati, F; Pistoia, Lm; Barile, Antonio; Masciocchi, Carlo | |
| Bilateral theta transcranial alternating current stimulation (tacs) modulates EEG activity: When tACS works awake it also works asleep | 1-gen-2019 | D'Atri, A.; Scarpelli, S.; Gorgoni, M.; Alfonsi, V.; Annarumma, L.; Giannini, A. M.; Ferrara, M.; Ferlazzo, F.; Rossini, P. M.; De Gennaro, L. | |
| Biliary penetration of some cephalosporins in patients with or without hepato-billary disease | 1-gen-1987 | Basoli, A; Fiocca, F; Schietroma, Mario; de Santis, A; Lomanto, D; Colella, A. Speranza V. | |
| Biliary pseudocyst. A rare consequence of an iatrogenic lesion of the bile ducts | 1-gen-1988 | Fiocca, F; Schietroma, Mario; De Santis, A; Basoli, A; Zechini, F; Speranza, V. |
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