BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 30903322)

  • 21. 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]  

  • 22. 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]  

  • 23. Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.
    Mori E; Fujikura J; Noguchi M; Nakao K; Matsubara M; Sone M; Taura D; Kusakabe T; Ebihara K; Tanaka T; Hosoda K; Takahashi K; Asaka I; Inagaki N; Nakao K
    Metabolism; 2016 Apr; 65(4):543-56. PubMed ID: 26975546
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
    Friguls B; Coroleu W; del Alcazar R; Hilbert P; Van Maldergem L; Pintos-Morell G
    Eur J Med Genet; 2009; 52(1):14-6. PubMed ID: 19041432
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
    Ferranti S; Lo Rizzo C; Renieri A; Galluzzi P; Grosso S
    Neurol Sci; 2020 Nov; 41(11):3345-3348. PubMed ID: 32440981
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
    Fernández-Marmiesse A; Sánchez-Iglesias S; Darling A; O'Callaghan MM; Tonda R; Jou C; Araújo-Vilar D
    Seizure; 2019 Oct; 71():161-165. PubMed ID: 31369919
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.
    Gomes KB; Pardini VC; Ferreira AC; Fonseca CG; Fernandes AP
    Ann Hum Genet; 2007 Nov; 71(Pt 6):729-34. PubMed ID: 17535271
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
    Miranda DM; Wajchenberg BL; Calsolari MR; Aguiar MJ; Silva JM; Ribeiro MG; Fonseca C; Amaral D; Boson WL; Resende BA; De Marco L
    Clin Endocrinol (Oxf); 2009 Oct; 71(4):512-7. PubMed ID: 19226263
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy.
    Zhou H; Lei X; Yan Y; Lydic T; Li J; Weintraub NL; Su H; Chen W
    JCI Insight; 2019 Jun; 5(14):. PubMed ID: 31185001
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Clinical and electrophysiological features in a French family presenting with seipinopathy.
    Ollivier Y; Magot A; Latour P; Perrier J; Mercier S; Maisonobe T; Péréon Y
    Neuromuscul Disord; 2015 Feb; 25(2):161-4. PubMed ID: 25454168
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy.
    Cui X; Wang Y; Meng L; Fei W; Deng J; Xu G; Peng X; Ju S; Zhang L; Liu G; Zhao L; Yang H
    Am J Physiol Endocrinol Metab; 2012 Mar; 302(6):E705-13. PubMed ID: 22234369
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.
    Minami K; Takahashi S; Nihei Y; Oki K; Suzuki S; Ito D; Takashima H; Suzuki N
    Intern Med; 2018 Feb; 57(4):613-615. PubMed ID: 29269637
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.