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]