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2002 4
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129 results

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Page 1
Endocrinological manifestations in RASopathies.
Tamburrino F, Scarano E, Schiavariello C, Perri A, Pession A, Mazzanti L. Tamburrino F, et al. Among authors: mazzanti l. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):471-477. doi: 10.1002/ajmg.c.32013. Epub 2022 Nov 19. Am J Med Genet C Semin Med Genet. 2022. PMID: 36401574 Review.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Lepri F, et al. Among authors: mazzanti l. Hum Mutat. 2011 Jul;32(7):760-72. doi: 10.1002/humu.21492. Epub 2011 Apr 28. Hum Mutat. 2011. PMID: 21387466 Free PMC article.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Motta M, Solman M, Bonnard AA, Kuechler A, Pantaleoni F, Priolo M, Chandramouli B, Coppola S, Pizzi S, Zara E, Ferilli M, Kayserili H, Onesimo R, Leoni C, Brinkmann J, Vial Y, Kamphausen SB, Thomas-Teinturier C, Guimier A, Cordeddu V, Mazzanti L, Zampino G, Chillemi G, Zenker M, Cavé H, den Hertog J, Tartaglia M. Motta M, et al. Among authors: mazzanti l. Hum Mol Genet. 2022 Aug 23;31(16):2766-2778. doi: 10.1093/hmg/ddac071. Hum Mol Genet. 2022. PMID: 35348676 Free PMC article.
Editorial: Endocrine aspects of Noonan syndrome and related syndromes.
Radetti G, Edouard T, Mazzanti L, Tartaglia M, Zenker M. Radetti G, et al. Among authors: mazzanti l. Front Endocrinol (Lausanne). 2023 Jan 5;13:1127686. doi: 10.3389/fendo.2022.1127686. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36686494 Free PMC article. No abstract available.
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
Tamburrino F, Mazzanti L, Scarano E, Gibertoni D, Sirolli M, Zioutas M, Schiavariello C, Perri A, Mantovani A, Rossi C, Tartaglia M, Pession A. Tamburrino F, et al. Among authors: mazzanti l. Front Endocrinol (Lausanne). 2023 Jul 31;14:1209339. doi: 10.3389/fendo.2023.1209339. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37588986 Free PMC article.
Developmental syndromes: growth hormone deficiency and treatment.
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A. Mazzanti L, et al. Endocr Dev. 2009;14:114-34. doi: 10.1159/000207481. Epub 2009 Feb 27. Endocr Dev. 2009. PMID: 19293579 Review.
Alzheimer's disease and diabetes: new insights and unifying therapies.
Vignini A, Giulietti A, Nanetti L, Raffaelli F, Giusti L, Mazzanti L, Provinciali L. Vignini A, et al. Among authors: mazzanti l. Curr Diabetes Rev. 2013 May;9(3):218-27. doi: 10.2174/1573399811309030003. Curr Diabetes Rev. 2013. PMID: 23363296 Review.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Motta M, et al. Among authors: mazzanti l. Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27. Am J Hum Genet. 2020. PMID: 32721402 Free PMC article.
129 results