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Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
Lecca M, Bedeschi MF, Izzi C, Dordoni C, Rinaldi B, Peluso F, Caraffi SG, Prefumo F, Signorelli M, Zanzucchi M, Bione S, Ghigna C, Sassi S, Novelli A, Valente EM, Superti-Furga A, Garavelli L, Errichiello E. Lecca M, et al. Among authors: garavelli l. Clin Genet. 2023 Aug;104(2):230-237. doi: 10.1111/cge.14336. Epub 2023 Apr 10. Clin Genet. 2023. PMID: 37038048
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.
Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S. Garavelli L, et al. Horm Res. 2005;63(4):187-92. doi: 10.1159/000085894. Epub 2005 May 20. Horm Res. 2005. PMID: 15908750
Clinical and mutational spectrum of Mowat-Wilson syndrome.
Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Zweier C, et al. Among authors: garavelli l. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902
Holt-Oram syndrome associated with anomalies of the feet.
Garavelli L, De Brasi D, Verri R, Guareschi E, Cariola F, Melis D, Calcagno G, Salvatore F, Unger S, Sebastio G, Albertini G, Rivieri F, Soli F, Superti-Furga A, Gentile M. Garavelli L, et al. Am J Med Genet A. 2008 May 1;146A(9):1185-9. doi: 10.1002/ajmg.a.32170. Am J Med Genet A. 2008. PMID: 18351627
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.
Clinical utility gene card for: Mowat-Wilson syndrome.
Zollino M, Garavelli L, Rauch A. Zollino M, et al. Among authors: garavelli l. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23. Eur J Hum Genet. 2011. PMID: 21343952 Free PMC article. No abstract available.
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: garavelli l. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
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
167 results