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Page 1
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
Gargano G, Guidotti I, Balestri E, Vagnarelli F, Rosato S, Comitini G, Wischmeijer A, La Sala GB, Iughetti L, Cordeddu V, Rossi C, Tartaglia M, Garavelli L. Gargano G, et al. Among authors: garavelli l. Am J Med Genet A. 2014 Apr;164A(4):1015-20. doi: 10.1002/ajmg.a.36376. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458587 Free article.
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. 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.
Mandibuloacral dysplasia type A in childhood.
Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. Garavelli L, et al. Am J Med Genet A. 2009 Oct;149A(10):2258-64. doi: 10.1002/ajmg.a.33005. Am J Med Genet A. 2009. PMID: 19764019
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M. Caputo V, et al. Among authors: garavelli l. Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011. Am J Hum Genet. 2012. PMID: 22243968 Free PMC article.
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Häberle J, Kornak U, Brancati F. Zampatti S, et al. Among authors: garavelli l. Am J Med Genet A. 2012 Apr;158A(4):927-31. doi: 10.1002/ajmg.a.35231. Epub 2012 Mar 12. Am J Med Genet A. 2012. PMID: 22411858 No abstract available.
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Garavelli L, Gargano G, Simonte G, Rosato S, Wischmeijer A, Melli N, Braibanti S, Gelmini C, Forzano F, Pietrobono R, Pomponi MG, Andreucci E, Toutain A, Superti-Furga A, Neri G. Garavelli L, et al. Am J Med Genet A. 2012 Sep;158A(9):2245-9. doi: 10.1002/ajmg.a.35474. Epub 2012 Jul 17. Am J Med Genet A. 2012. PMID: 22807161
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E. Cordelli DM, et al. Among authors: garavelli l. Am J Med Genet A. 2013 Feb;161A(2):273-84. doi: 10.1002/ajmg.a.35717. Epub 2013 Jan 15. Am J Med Genet A. 2013. PMID: 23322667
175 results