205 related articles for article (PubMed ID: 28916377)
21. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the
Özalkak Ş; Demiral M; Ünal E; Taş FF; Onay H; Demirbilek H; Özbek MN
J Clin Res Pediatr Endocrinol; 2023 Aug; 15(3):329-333. PubMed ID: 35735786
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. 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]
26. 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]
27. Role of Seipin in Human Diseases and Experimental Animal Models.
Li Y; Yang X; Peng L; Xia Q; Zhang Y; Huang W; Liu T; Jia D
Biomolecules; 2022 Jun; 12(6):. PubMed ID: 35740965
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Haghighi A; Kavehmanesh Z; Haghighi A; Salehzadeh F; Santos-Simarro F; Van Maldergem L; Cimbalistiene L; Collins F; Chopra M; Al-Sinani S; Dastmalchian S; de Silva DC; Bakhti H; Garg A; Hilbert P
Clin Genet; 2016 Apr; 89(4):434-441. PubMed ID: 26072926
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. [Unusual facies and recurrent high triglycerides for more than one year in a girl].
Yin ZX; He XL; Zou RY
Zhongguo Dang Dai Er Ke Za Zhi; 2018 Dec; 20(12):1050-1054. PubMed ID: 30572997
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress].
Ito D; Suzuki N
Rinsho Shinkeigaku; 2007 Jun; 47(6):329-35. PubMed ID: 17633104
[TBL] [Abstract][Full Text] [Related]
35. RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients.
Huang YH; Su TC; Wang CH; Wong SL; Chien YH; Wang YT; Hwu WL; Lee NC
Sci Data; 2021 Oct; 8(1):265. PubMed ID: 34645804
[TBL] [Abstract][Full Text] [Related]
36. Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy.
Qannan A; Bejaoui Y; Izadi M; Yousri NA; Razzaq A; Christiansen C; Martin GM; Bell JT; Horvath S; Oshima J; Megarbane A; Ericsson J; Pourkarimi E; El Hajj N
Hum Mol Genet; 2023 May; 32(11):1826-1835. PubMed ID: 36715159
[TBL] [Abstract][Full Text] [Related]
37. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J; Delépine M; Khallouf E; Gedde-Dahl T; Van Maldergem L; Sobel E; Papp J; Meier M; Mégarbané A; Bachy A; Verloes A; d'Abronzo FH; Seemanova E; Assan R; Baudic N; Bourut C; Czernichow P; Huet F; Grigorescu F; de Kerdanet M; Lacombe D; Labrune P; Lanza M; Loret H; Matsuda F; Navarro J; Nivelon-Chevalier A; Polak M; Robert JJ; Tric P; Tubiana-Rufi N; Vigouroux C; Weissenbach J; Savasta S; Maassen JA; Trygstad O; Bogalho P; Freitas P; Medina JL; Bonnicci F; Joffe BI; Loyson G; Panz VR; Raal FJ; O'Rahilly S; Stephenson T; Kahn CR; Lathrop M; Capeau J;
Nat Genet; 2001 Aug; 28(4):365-70. PubMed ID: 11479539
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Genetic basis of congenital generalized lipodystrophy.
Agarwal AK; Barnes RI; Garg A
Int J Obes Relat Metab Disord; 2004 Feb; 28(2):336-9. PubMed ID: 14557833
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
