BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 32236581)

  • 1. Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
    Xie B; Fan X; Lei Y; Yi S; Yang Q; Wang J; Qin Z; Shen F; Luo J; Shen Y
    Mol Med Rep; 2020 Jun; 21(6):2296-2302. PubMed ID: 32236581
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
    Purizaca-Rosillo N; Mori T; Benites-Cóndor Y; Hisama FM; Martin GM; Oshima J
    Am J Med Genet A; 2017 Feb; 173(2):471-478. PubMed ID: 27868354
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.
    Chen R; Yuan X; Wang J; Zhang Y
    Gene; 2017 Dec; 637():57-62. PubMed ID: 28916377
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A New Compound Heterozygous Mutation Of
    Qin YY; Zhang X; Xiang LQ; Shan QW; Li SD; Yan J; Lin FQ
    Diabetes Metab Syndr Obes; 2019; 12():2583-2587. PubMed ID: 31824185
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.
    Shirwalkar HU; Patel ZM; Magre J; Hilbert P; Van Maldergem L; Mukhopadhyay RR; Maitra A
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S317-22. PubMed ID: 18690553
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
    Rahman OU; Khawar N; Khan MA; Ahmed J; Khattak K; Al-Aama JY; Naeem M; Jelani M
    Diagn Pathol; 2013 May; 8():78. PubMed ID: 23659685
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.
    Jin J; Cao L; Zhao Z; Shen S; Kiess W; Zhi D; Ye R; Cheng R; Chen L; Yang Y; Luo F
    Eur J Endocrinol; 2007 Dec; 157(6):783-7. PubMed ID: 18057387
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
    Nishiyama A; Yagi M; Awano H; Okizuka Y; Maeda T; Yoshida S; Takeshima Y; Matsuo M
    Pediatr Int; 2009 Dec; 51(6):775-9. PubMed ID: 19438831
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
    Schuster J; Khan TN; Tariq M; Shaiq PA; Mäbert K; Baig SM; Klar J
    BMC Med Genet; 2014 Jun; 15():71. PubMed ID: 24961962
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
    Liu Y; Li D; Ding Y; Kang L; Jin Y; Song J; Li H; Yang Y
    Eur J Med Genet; 2019 Sep; 62(9):103542. PubMed ID: 30266686
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.
    Huang HH; Chen TH; Hsiao HP; Huang CT; Wang CC; Shiau YH; Chao MC
    Kaohsiung J Med Sci; 2010 Nov; 26(11):615-20. PubMed ID: 21126715
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.
    Su X; Lin R; Huang Y; Sheng H; Li X; Ting TH; Liu L; Li X
    J Clin Res Pediatr Endocrinol; 2017 Mar; 9(1):52-57. PubMed ID: 27612026
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.
    Ye JY; Huang AJ; Fu ZZ; Gong YY; Yang HY; Zhou HW
    Yi Chuan; 2022 Oct; 44(10):926-936. PubMed ID: 36384728
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The neonatal onset diabetes mellitus of Chinese neonate with congenital generalized lipodystrophy 2: a case report.
    Yang Y; Ma L; Sun J; Gong X; Cai C; Hong W
    BMC Endocr Disord; 2022 Mar; 22(1):83. PubMed ID: 35351089
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation.
    Wang M; Cun Z; Peng J; Chen R; Li J
    Eur J Clin Nutr; 2022 Jul; 76(7):1041-1043. PubMed ID: 35043011
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.
    Akinci B; Onay H; Demir T; Ozen S; Kayserili H; Akinci G; Nur B; Tuysuz B; Nuri Ozbek M; Gungor A; Yildirim Simsir I; Altay C; Demir L; Simsek E; Atmaca M; Topaloglu H; Bilen H; Atmaca H; Atik T; Cavdar U; Altunoglu U; Aslanger A; Mihci E; Secil M; Saygili F; Comlekci A; Garg A
    J Clin Endocrinol Metab; 2016 Jul; 101(7):2759-67. PubMed ID: 27144933
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
    Sánchez-Iglesias S; Crocker M; O'Callaghan M; Darling A; García-Cazorla A; Domingo-Jiménez R; Castro A; Fernández-Pombo A; Ruibal Á; Aguiar P; Garrido-Pumar M; Rodríguez-Núñez A; Álvarez-Escudero J; Brown RJ; Araújo-Vilar D
    Neurogenetics; 2019 May; 20(2):73-82. PubMed ID: 30903322
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeted massively parallel sequencing for congenital generalized lipodystrophy.
    Costa-Riquetto AD; Santana LS; Caetano LA; Lerário AM; Correia-Deur JEM; Bertola DR; Kim CA; Nery M; Jorge AAL; Teles MG
    Arch Endocrinol Metab; 2021 May; 64(5):559-566. PubMed ID: 34033296
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
    Su X; Lin Y; Liu L; Mei H; Xu A; Zeng C; Sheng H; Cheng J; Shao Y; Zheng R; Ting TH; Zhang W; Li X
    J Pediatr Endocrinol Metab; 2023 Jan; 36(1):74-80. PubMed ID: 36433712
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
    Opri R; Fabrizi GM; Cantalupo G; Ferrarini M; Simonati A; Dalla Bernardina B; Darra F
    Seizure; 2016 Nov; 42():1-6. PubMed ID: 27632409
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.