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2. Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure. Kwok A; Zvetkova I; Virtue S; Luijten I; Huang-Doran I; Tomlinson P; Bulger DA; West J; Murfitt S; Griffin J; Alam R; Hart D; Knox R; Voshol P; Vidal-Puig A; Jensen J; O'Rahilly S; Semple RK Mol Metab; 2020 Oct; 40():101020. PubMed ID: 32439336 [TBL] [Abstract][Full Text] [Related]
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4. Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up. Yin X; Liu J; Feng R; Xu M; Liu J J Diabetes Investig; 2021 Oct; 12(10):1919-1922. PubMed ID: 33742773 [TBL] [Abstract][Full Text] [Related]
5. Mutations in PIK3R1 cause SHORT syndrome. Dyment DA; Smith AC; Alcantara D; Schwartzentruber JA; Basel-Vanagaite L; Curry CJ; Temple IK; Reardon W; Mansour S; Haq MR; Gilbert R; Lehmann OJ; Vanstone MR; Beaulieu CL; ; Majewski J; Bulman DE; O'Driscoll M; Boycott KM; Innes AM Am J Hum Genet; 2013 Jul; 93(1):158-66. PubMed ID: 23810382 [TBL] [Abstract][Full Text] [Related]
6. A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia. Marzollo A; Maestrini G; La Starza R; Elia L; Malfona F; Pierini T; Tretti Parenzan C; Coppe A; Bortoluzzi S; Biffi A; Mecucci C; Bresolin S; Testi AM Am J Hematol; 2020 Dec; 95(12):E335-E338. PubMed ID: 32936972 [No Abstract] [Full Text] [Related]
7. SHORT syndrome in two Chinese girls: A case report and review of the literature. Zhang Y; Ji B; Li J; Li Y; Zhang M; Ban B Mol Genet Genomic Med; 2020 Sep; 8(9):e1385. PubMed ID: 32602265 [TBL] [Abstract][Full Text] [Related]
8. PIK3R1 mutations in SHORT syndrome. Schroeder C; Riess A; Bonin M; Bauer P; Riess O; Döbler-Neumann M; Wieser S; Moog U; Tzschach A Clin Genet; 2014 Sep; 86(3):292-4. PubMed ID: 23980586 [TBL] [Abstract][Full Text] [Related]
9. Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. Bravo García-Morato M; García-Miñaúr S; Molina Garicano J; Santos Simarro F; Del Pino Molina L; López-Granados E; Ferreira Cerdán A; Rodríguez Pena R Clin Immunol; 2017 Jun; 179():77-80. PubMed ID: 28302518 [TBL] [Abstract][Full Text] [Related]
10. A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature. Sun L; Zhang Q; Li Q; Tang Y; Wang Y; Li X; Li N; Wang J; Wang X BMC Med Genet; 2020 Oct; 21(1):215. PubMed ID: 33129256 [TBL] [Abstract][Full Text] [Related]
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12. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. Bárcena C; Quesada V; De Sandre-Giovannoli A; Puente DA; Fernández-Toral J; Sigaudy S; Baban A; Lévy N; Velasco G; López-Otín C BMC Med Genet; 2014 May; 15():51. PubMed ID: 24886349 [TBL] [Abstract][Full Text] [Related]
13. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. Petrovski S; Parrott RE; Roberts JL; Huang H; Yang J; Gorentla B; Mousallem T; Wang E; Armstrong M; McHale D; MacIver NJ; Goldstein DB; Zhong XP; Buckley RH J Clin Immunol; 2016 Jul; 36(5):462-71. PubMed ID: 27076228 [TBL] [Abstract][Full Text] [Related]
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19. Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in Szczawińska-Popłonyk A; Bernat-Sitarz K; Schwartzmann E; Piechota M; Badura-Stronka M Allergol Immunopathol (Madr); 2022; 50(4):1-9. PubMed ID: 35789397 [TBL] [Abstract][Full Text] [Related]
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