These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 29476696)

  • 1. Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor.
    Hamaguchi T; Hirota Y; Takeuchi T; Nakagawa Y; Matsuoka A; Matsumoto M; Awano H; Iijima K; Cha PC; Satake W; Toda T; Ogawa W
    J Diabetes Investig; 2018 Sep; 9(5):1224-1227. PubMed ID: 29476696
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
    Thauvin-Robinet C; Auclair M; Duplomb L; Caron-Debarle M; Avila M; St-Onge J; Le Merrer M; Le Luyer B; Héron D; Mathieu-Dramard M; Bitoun P; Petit JM; Odent S; Amiel J; Picot D; Carmignac V; Thevenon J; Callier P; Laville M; Reznik Y; Fagour C; Nunes ML; Capeau J; Lascols O; Huet F; Faivre L; Vigouroux C; Rivière JB
    Am J Hum Genet; 2013 Jul; 93(1):141-9. PubMed ID: 23810378
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.
    Lee CL; Chuang CK; Chiu HC; Tu RY; Lo YT; Chang YH; Lin HY; Lin SP
    Mol Genet Metab Rep; 2021 Jun; 27():100768. PubMed ID: 34026551
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. SHORT syndrome in an adult Brazilian patient.
    Gonçalves ACG; Moretti PN; Cordoba MS; Oliveira RS; Lopes FSC; Oliveira SF; Pic-Taylor A; Castro LC; Mazzeu JF
    Am J Med Genet A; 2022 May; 188(5):1635-1638. PubMed ID: 35080105
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    JCI Insight; 2016 Oct; 1(17):e88766. PubMed ID: 27766312
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report.
    Kim SH; Kim M; Yim J; Kim M; Jang DH
    Front Pediatr; 2021; 9():650920. PubMed ID: 34249805
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
    Chudasama KK; Winnay J; Johansson S; Claudi T; König R; Haldorsen I; Johansson B; Woo JR; Aarskog D; Sagen JV; Kahn CR; Molven A; Njølstad PR
    Am J Hum Genet; 2013 Jul; 93(1):150-7. PubMed ID: 23810379
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    Clin Genet; 2016 Apr; 89(4):501-506. PubMed ID: 26497935
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype.
    Mubeen S; Gibson C; Mubeen R; Mansour S; Evans RD
    Cleft Palate Craniofac J; 2022 Jul; 59(7):873-881. PubMed ID: 34212753
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.
    Solheim MH; Winnay JN; Batista TM; Molven A; Njølstad PR; Kahn CR
    Diabetes; 2018 Jul; 67(7):1297-1309. PubMed ID: 29724723
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Use of a Sodium-Glucose Cotransporter 2 Inhibitor, Empagliflozin, in a Patient with Rabson-Mendenhall Syndrome.
    Dos Santos SS; Ramaldes LA; Gabbay MAL; Moises RCS; Dib SA
    Horm Res Paediatr; 2021; 94(7-8):313-316. PubMed ID: 34551418
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Insulin resistance Type A and short 5th metacarpals.
    Patel VK; Davies HA
    Diabet Med; 2003 Jun; 20(6):500-4. PubMed ID: 12786688
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Insulin resistance associated with substitution of histidine for arginine 252 in the alpha-subunit of the human insulin receptor: trial of insulin-like growth factor I injection therapy to enhance insulin sensitivity.
    Nakashima N; Umeda F; Yanase T; Nawata H
    J Clin Endocrinol Metab; 1995 Dec; 80(12):3662-7. PubMed ID: 8530617
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.