BetterScholar BetterScholar

R. Carrozzo

Nature, Human Molecular Genetics, Journal of the American Medical Association, Proceedings of the National Academy of Sciences of the United States of America, Brain : a journal of neurology, Annals of Neurology, EMBO Journal, Journal of Medical Genetics Show more
11
Role
Title
Level Year L/R
🐜 A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
17 auth. B. Franco, S. Guioli, A. Pragliola, A. Pragliola, B. Incerti, B. Bardoni, R. Tonlorenzi, R. Carrozzo, E. Maestrini, M. Pieretti, ... P. Taillon-Miller, Carolyn J. Brown, H. Willard, Charles Lawrence, M. Persico, G. Camerino, A. Ballabio 		9 1991
9
🐜
🐜 Isolation of a Miller–Dicker lissencephaly gene containing G protein Ξ²-subunit-like repeats
8 auth. O. Reiner, R. Carrozzo, Ying Shen, M. Wehnert, F. Faustinella, W. Dobyns, ... C. Caskey, D. Ledbetter 		9 1993
9
🐜
🐜 Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
8 auth. O. Reiner, R. Carrozzo, Y. Shen, M. Wehnert, F. Faustinella, W. Dobyns, ... C. Caskey, D. Ledbetter 		9 1993
9
🐜
🐬 Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
W. Dobyns, O. Reiner, R. Carrozzo, D. Ledbetter 		8 1993
8
🐬
🐬 Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
C. L. Nigro, S. Chong, Ann C M Smith, W. Dobyns, R. Carrozzo, D. Ledbetter 		8 1997
8
🐬
🐜 Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
10 auth. A. Ballabio, B. Bardoni, R. Carrozzo, G. Andria, D. Bick, L. Campbell, ... B. Hamel, M. Ferguson-Smith, G. Gimelli, M. Fraccaro 		8 1989
8
🐜
🐜 A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
9 auth. S. Chong, S. Pack, A. Roschke, A. Tanigami, R. Carrozzo, Ann C M Smith, ... Ann C M Smith, W. Dobyns, D. Ledbetter 		7 1997
7
🐜
🐜 Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2.
11 auth. R. Guerrini, Paolo Bonanni, A. Patrignani, P. Brown, L. Parmeggiani, P. Grosse, ... P. Brovedani, F. Moro, P. Aridon, R. Carrozzo, G. Casari 		7 2001
7
🐜
🐜 Autosomal recessive Rolandic epilepsy with paroxysmal exercise‐induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12‐11.2
10 auth. R. Guerrini, Paolo Bonanni, N. Nardocci, L. Parmeggiani, M. Piccirilli, M. De Fusco, ... P. Aridon, A. Ballabio, R. Carrozzo, G. Casari 		7 1999
7
🐜
🐒 Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor
13 auth. G. Meroni, A. Reymond, M. Alcalay, G. Borsani, A. Tanigami, R. Tonlorenzi, C. L. Nigro, S. Messali, M. Zollo, D. Ledbetter, ... R. Brent, A. Ballabio, R. Carrozzo 		7 1997
7
🐒
🐜 Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
23 auth. E. Rossi, Flavia Piccini, M. Zollino, G. Neri, D. Caselli, R. Tenconi, C. Castellan, R. Carrozzo, C. Danesino, O. Zuffardi, ... A. Ragusa, L. Castiglia, O. Galesi, D. Greco, C. Romano, M. Pierluigi, C. Perfumo, M. Di Rocco, F. Faravelli, F. Bricarelli, M. Bonaglia, M. Bedeschi, R. Borgatti 		7 2001
7
🐜