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Year Number of Results
2013 2
2014 2
2015 2
2016 1
2017 2
2018 3
2019 2
2020 5
2021 8
2022 9
2023 5
2024 3

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36 results

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Page 1
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C, Iascone M, Canonico F, Marcé-Grau A, de Souza P, Adams DR, Casasnovas C, Rehm HL, Mefford HC, González Gutierrez-Solana L, Brusco A, Koenig M, Macaya A, Pujol A. Verdura E, et al. Among authors: saettini f. Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124. Brain. 2021. PMID: 34415322 Free PMC article.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: saettini f. J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Review.
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S, Girardi K, Fioredda F, Pedace L, Arcuri L, Badolato R, Bonanomi S, Borlenghi E, Cirillo E, Coliva T, Consonni F, Conti F, Farruggia P, Gambineri E, Guerra F, Locatelli F, Mancuso G, Marzollo A, Masetti R, Micalizzi C, Onofrillo D, Piccini M, Pignata C, Raddi MG, Santini V, Vendemini F, Biondi A, Saettini F. Roncareggi S, et al. Among authors: saettini f. J Clin Immunol. 2023 Nov;43(8):2192-2207. doi: 10.1007/s10875-023-01583-8. Epub 2023 Oct 14. J Clin Immunol. 2023. PMID: 37837580
Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response.
Jaschke NP, Breining D, Hofmann M, Pählig S, Baschant U, Oertel R, Traikov S, Grinenko T, Saettini F, Biondi A, Stylianou M, Bringmann H, Zhang C, Yoshida TM, Weidner H, Poller WC, Swirski FK, Göbel A, Hofbauer LC, Rauner M, Scheiermann C, Wang A, Rachner TD. Jaschke NP, et al. Among authors: saettini f. Immunity. 2024 Feb 13;57(2):364-378.e9. doi: 10.1016/j.immuni.2024.01.005. Epub 2024 Jan 31. Immunity. 2024. PMID: 38301651 Free article.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Poli MC, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK. Forbes LR, et al. Among authors: saettini f. J Allergy Clin Immunol. 2022 Feb;149(2):758-766. doi: 10.1016/j.jaci.2021.07.015. Epub 2021 Jul 28. J Allergy Clin Immunol. 2022. PMID: 34329649 Free PMC article.
36 results