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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1983 1
1989 1
1993 1
1995 1
1996 1
1998 1
2000 1
2003 2
2004 2
2005 1
2008 1
2011 1
2012 1
2013 4
2014 2
2015 2
2016 3
2017 3
2018 1
2019 1
2020 1
2024 0

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PubMed (Bookshelf cited) for id: 164212

31 results

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Page 1
Metformin paradoxically worsens insulin resistance in SHORT syndrome.
Lewandowski KC, Dąbrowska K, Brzozowska M, Kawalec J, Lewiński A. Lewandowski KC, et al. Diabetol Metab Syndr. 2019 Oct 1;11:81. doi: 10.1186/s13098-019-0477-z. eCollection 2019. Diabetol Metab Syndr. 2019. PMID: 31583022 Free PMC article.
SHORT syndrome in a two-year-old girl - case report.
Klatka M, Rysz I, Kozyra K, Polak A, Kołłątaj W. Klatka M, et al. Ital J Pediatr. 2017 May 4;43(1):44. doi: 10.1186/s13052-017-0362-z. Ital J Pediatr. 2017. PMID: 28472977 Free PMC article. Review.
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. Bravo García-Morato M, et al. Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14. Clin Immunol. 2017. PMID: 28302518
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
Huang-Doran I, Tomlinson P, Payne F, Gast A, Sleigh A, Bottomley W, Harris J, Daly A, Rocha N, Rudge S, Clark J, Kwok A, Romeo S, McCann E, Müksch B, Dattani M, Zucchini S, Wakelam M, Foukas LC, Savage DB, Murphy R, O'Rahilly S, Barroso I, Semple RK. Huang-Doran I, et al. JCI Insight. 2016 Oct 20;1(17):e88766. doi: 10.1172/jci.insight.88766. JCI Insight. 2016. PMID: 27766312 Free PMC article.
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.
Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Avila M, et al. Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27. Clin Genet. 2016. PMID: 26497935 Free article.
31 results