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 *

139 related articles for article (PubMed ID: 27189019)

  • 1. Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.
    Jéru I; Vatier C; Araujo-Vilar D; Vigouroux C; Lascols O
    Eur J Hum Genet; 2016 Nov; 24(11):. PubMed ID: 27189019
    [No Abstract]   [Full Text] [Related]  

  • 2. Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands.
    Montenegro RM; Fernandes VO; Penaforte Saboia JG; Montenegro APDR; Lima JG
    J Pediatr; 2019 Apr; 207():257-257.e1. PubMed ID: 30579587
    [No Abstract]   [Full Text] [Related]  

  • 3. Generalized lipoatrophy syndromes.
    Sorkina E; Chichkova V
    Presse Med; 2021 Nov; 50(3):104075. PubMed ID: 34562560
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.
    Haghighi A; Razzaghy-Azar M; Talea A; Sadeghian M; Ellard S; Haghighi A
    Eur J Med Genet; 2012 Nov; 55(11):620-4. PubMed ID: 22902344
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
    Rostami P; Nakhaeimoghadam M; Bijani FM; Sotoudeh A; Rabbani A; Hilbert P; Rezaei N
    Ann Endocrinol (Paris); 2013 Feb; 74(1):59-61. PubMed ID: 23337016
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.
    Wu YR; Hung SI; Chang YC; Chen ST; Lin YL; Chung WH
    J Neurol Neurosurg Psychiatry; 2009 Oct; 80(10):1180-1. PubMed ID: 19762912
    [No Abstract]   [Full Text] [Related]  

  • 12. Congenital generalized lipodystrophy in Taiwan.
    Hsu RH; Lin WD; Chao MC; Hsiao HP; Wong SL; Chiu PC; Chu SY; Ke YY; Lau BH; Chien YH; Hwu WL; Tsai FJ; Wang CH; Lee NC
    J Formos Med Assoc; 2019 Jan; 118(1 Pt 1):142-147. PubMed ID: 29478747
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Caveolar dysfunction and lipodystrophies.
    Patni N; Hegele RA; Garg A
    Eur J Endocrinol; 2022 Jan; 186(3):C1-C4. PubMed ID: 34935636
    [No Abstract]   [Full Text] [Related]  

  • 19. Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.
    Debray FG; Baguette C; Colinet S; Van Maldergem L; Verellen-Dumouin C
    Mol Genet Metab; 2013 Jun; 109(2):227-9. PubMed ID: 23647707
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Caveolin-1: a new locus for human lipodystrophy.
    Garg A; Agarwal AK
    J Clin Endocrinol Metab; 2008 Apr; 93(4):1183-5. PubMed ID: 18390817
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.