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A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: bergamaschi r. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Barber-Say Syndrome: report of a new case.
Mazzanti L, Bergamaschi R, Neri I, Perri A, Patrizi A, Cacciari E, Forabosco A. Mazzanti L, et al. Among authors: bergamaschi r. Am J Med Genet. 1998 Jun 30;78(2):188-91. Am J Med Genet. 1998. PMID: 9674915
Juvenile dermatomyositis: A report of three cases.
Papa V, Romanin B, Bergamaschi R, Cordelli DM, Costa R, De Giorgi LB, Cenacchi G. Papa V, et al. Among authors: bergamaschi r. Ultrastruct Pathol. 2016;40(2):83-5. doi: 10.3109/01913123.2016.1141823. Epub 2016 Feb 17. Ultrastruct Pathol. 2016. PMID: 26886841
Noonan-like syndrome with loose anagen hair: a new syndrome?
Mazzanti L, Cacciari E, Cicognani A, Bergamaschi R, Scarano E, Forabosco A. Mazzanti L, et al. Among authors: bergamaschi r. Am J Med Genet A. 2003 Apr 30;118A(3):279-86. doi: 10.1002/ajmg.a.10923. Am J Med Genet A. 2003. PMID: 12673660
Turner syndrome, insulin sensitivity and growth hormone treatment.
Mazzanti L, Bergamaschi R, Castiglioni L, Zappulla F, Pirazzoli P, Cicognani A. Mazzanti L, et al. Among authors: bergamaschi r. Horm Res. 2005;64 Suppl 3:51-7. doi: 10.1159/000089318. Epub 2006 Jan 20. Horm Res. 2005. PMID: 16439845
Developmental syndromes: growth hormone deficiency and treatment.
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A. Mazzanti L, et al. Among authors: bergamaschi r. Endocr Dev. 2009;14:114-34. doi: 10.1159/000207481. Epub 2009 Feb 27. Endocr Dev. 2009. PMID: 19293579 Review.
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E. Mazzanti L, et al. Among authors: bergamaschi r. Am J Med Genet A. 2005 Jun 1;135(2):150-4. doi: 10.1002/ajmg.a.30569. Am J Med Genet A. 2005. PMID: 15880570
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. Garavelli L, et al. Among authors: bergamaschi r. Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Am J Med Genet A. 2009. PMID: 19215041 Review.
715 results