263 related articles for article (PubMed ID: 27144933)
1. 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]
2. 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]
3. 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]
4. Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.
Simha V; Garg A
J Clin Endocrinol Metab; 2003 Nov; 88(11):5433-7. PubMed ID: 14602785
[TBL] [Abstract][Full Text] [Related]
5. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
Shastry S; Delgado MR; Dirik E; Turkmen M; Agarwal AK; Garg A
Am J Med Genet A; 2010 Sep; 152A(9):2245-53. PubMed ID: 20684003
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
Nilay Güneş ; Kutlu T; Tekant GT; Eroğlu AG; Üstündağ NÇ; Öztürk B; Onay H; Tüysüz B
Eur J Med Genet; 2020 Apr; 63(4):103819. PubMed ID: 31778856
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.
Al Yaarubi S; Alsagheir A; Al Shidhani A; Alzelaye S; Alghazir N; Brema I; Alsaffar H; Al Dubayee M; Alshahrani A; Abdelmeguid Y; Omar OM; Attia N; Al Amiri E; Al Jubeh J; Algethami A; Alkhayyat H; Haleem A; Al Yahyaei M; Khochtali I; Babli S; Nugud A; Thalange N; Albalushi S; Hergli N; Deeb A; Alfadhel M
Orphanet J Rare Dis; 2024 Mar; 19(1):118. PubMed ID: 38481246
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.
Altay C; Seçil M; Demir T; Atik T; Akıncı G; Özdemir Kutbay N; Keskin Temeloğlu E; Yıldırım Şimşir I; Özışık S; Demir L; Eren E; Tuna EB; Aytaç H; Onay H; Akıncı B
Diagn Interv Radiol; 2017; 23(6):428-434. PubMed ID: 29044029
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]