229 related articles for article (PubMed ID: 27868354)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.
Simha V; Agarwal AK; Aronin PA; Iannaccone ST; Garg A
Am J Med Genet A; 2008 Sep; 146A(18):2318-26. PubMed ID: 18698612
[TBL] [Abstract][Full Text] [Related]
15. Berardinelli-Seip syndrome and progressive myoclonus epilepsy.
Serino D; Davico C; Specchio N; Marras CE; Fioretto F
Epileptic Disord; 2019 Feb; 21(1):117-121. PubMed ID: 30767895
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Agarwal AK; Simha V; Oral EA; Moran SA; Gorden P; O'Rahilly S; Zaidi Z; Gurakan F; Arslanian SA; Klar A; Ricker A; White NH; Bindl L; Herbst K; Kennel K; Patel SB; Al-Gazali L; Garg A
J Clin Endocrinol Metab; 2003 Oct; 88(10):4840-7. PubMed ID: 14557463
[TBL] [Abstract][Full Text] [Related]
20. Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.
Dyment DA; Gibson WT; Huang L; Bassyouni H; Hegele RA; Innes AM
Eur J Med Genet; 2014 Sep; 57(9):524-6. PubMed ID: 24980513
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]