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Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I, Foroni S, Valli R, Frattini A, Roccia P, Porta G, Zecca M, Bergami E, Cipolli M, Pasquali F, Danesino C, Scotti C, Minelli A. Taha I, et al. Among authors: porta g. Front Genet. 2022 Aug 12;13:896749. doi: 10.3389/fgene.2022.896749. eCollection 2022. Front Genet. 2022. PMID: 36035165 Free PMC article.
The mammary gland and the homeobox gene Otx1.
Pagani IS, Terrinoni A, Marenghi L, Zucchi I, Chiaravalli AM, Serra V, Rovera F, Sirchia S, Dionigi G, Miozzo M, Frattini A, Ferrari A, Capella C, Pasquali F, Lo Curto F, Albertini A, Melino G, Porta G. Pagani IS, et al. Among authors: porta g. Breast J. 2010 Sep-Oct;16 Suppl 1:S53-6. doi: 10.1111/j.1524-4741.2010.01006.x. Breast J. 2010. PMID: 21050313 Free article.
Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.
Valli R, Minelli A, Galbiati M, D'Amico G, Frattini A, Montalbano G, Khan AW, Porta G, Millefanti G, Olivieri C, Cipolli M, Cesaro S, Pasquali F, Danesino C, Cazzaniga G, Maserati E. Valli R, et al. Among authors: porta g. Br J Haematol. 2019 Mar;184(6):974-981. doi: 10.1111/bjh.15729. Epub 2018 Dec 26. Br J Haematol. 2019. PMID: 30585299 Free article.
Skin picking disorder in 97 Italian and Spanish Cri du chat patients.
Spunton M, Guala A, Liverani ME, Medolago L, Tognon F, Casado F, Del Valle M, Porras J, Larrea I, Porta G, Albani G, Nevado J, Danesino C. Spunton M, et al. Among authors: porta g. Am J Med Genet A. 2019 Aug;179(8):1525-1530. doi: 10.1002/ajmg.a.61259. Epub 2019 Jun 12. Am J Med Genet A. 2019. PMID: 31187941
631 results