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Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Among authors: balzano s. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CD, et al. Among authors: balzano s. Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Nat Genet. 2016. PMID: 27213289 Free article.
Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. van Karnebeek CDM, et al. Among authors: balzano s. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. Nat Genet. 2017. PMID: 28546570 No abstract available.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C. Nikopoulos K, et al. Among authors: balzano s. Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009. Am J Hum Genet. 2016. PMID: 27588451 Free PMC article.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C. Bedoni N, et al. Among authors: balzano s. Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282. Hum Mol Genet. 2016. PMID: 28173158 Free article.
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
Genesio R, Mormile A, Licenziati MR, De Brasi D, Leone G, Balzano S, Izzo A, Bonfiglio F, Conti A, Fioretti G, Lenta S, Poggiano MR, Siani P, Nitsch L. Genesio R, et al. Among authors: balzano s. Mol Cytogenet. 2015 Jul 15;8:50. doi: 10.1186/s13039-015-0154-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26175800 Free PMC article.
Continuous bilateral erector spinae plane block for open hepatectomy.
Toscano A, Cremascoli L, Balzano S, Capuano P, Salonia C, Patrono D, Romagnoli R, Balagna R. Toscano A, et al. Among authors: balzano s. Minerva Anestesiol. 2024 Apr;90(4):348-350. doi: 10.23736/S0375-9393.23.17854-0. Epub 2024 Jan 30. Minerva Anestesiol. 2024. PMID: 38289297 Free article. No abstract available.
80 results