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1993 2
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Page 1
Did you mean brunello franco[Author] (24 results)?
OFD1: One gene, several disorders.
Pezzella N, Bove G, Tammaro R, Franco B. Pezzella N, et al. Among authors: franco b. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):57-71. doi: 10.1002/ajmg.c.31962. Epub 2022 Feb 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 35112477 Free PMC article. Review.
Oral-Facial-Digital Syndrome Type I.
Franco B, Bruel AL, Thauvin-Robinet C. Franco B, et al. 2002 Jul 24 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Jul 24 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301367 Free Books & Documents. Review.
miR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases.
Carrella S, Di Guida M, Brillante S, Piccolo D, Ciampi L, Guadagnino I, Garcia Piqueras J, Pizzo M, Marrocco E, Molinari M, Petrogiannakis G, Barbato S, Ezhova Y, Auricchio A, Franco B, De Leonibus E, Surace EM, Indrieri A, Banfi S. Carrella S, et al. Among authors: franco b. EMBO Mol Med. 2022 Nov 8;14(11):e15941. doi: 10.15252/emmm.202215941. Epub 2022 Oct 4. EMBO Mol Med. 2022. PMID: 36194668 Free PMC article.
Microphthalmia with Linear Skin Defects Syndrome.
Morleo M, Franco B. Morleo M, et al. Among authors: franco b. 2009 Jun 18 [updated 2018 Jul 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Jun 18 [updated 2018 Jul 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301767 Free Books & Documents. Review.
Update on oral-facial-digital syndromes (OFDS).
Franco B, Thauvin-Robinet C. Franco B, et al. Cilia. 2016 May 2;5:12. doi: 10.1186/s13630-016-0034-4. eCollection 2016. Cilia. 2016. PMID: 27141300 Free PMC article. Review.
Proteome balance in ciliopathies: the OFD1 protein example.
Morleo M, Pezzella N, Franco B. Morleo M, et al. Among authors: franco b. Trends Mol Med. 2023 Mar;29(3):201-217. doi: 10.1016/j.molmed.2022.11.007. Epub 2022 Dec 6. Trends Mol Med. 2023. PMID: 36494254 Review.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: franco b. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
95 results