These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 23659685)

  • 21. Congenital generalized lipodystrophy in Taiwan.
    Hsu RH; Lin WD; Chao MC; Hsiao HP; Wong SL; Chiu PC; Chu SY; Ke YY; Lau BH; Chien YH; Hwu WL; Tsai FJ; Wang CH; Lee NC
    J Formos Med Assoc; 2019 Jan; 118(1 Pt 1):142-147. PubMed ID: 29478747
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.
    Ebihara K; Kusakabe T; Masuzaki H; Kobayashi N; Tanaka T; Chusho H; Miyanaga F; Miyazawa T; Hayashi T; Hosoda K; Ogawa Y; Nakao K
    J Clin Endocrinol Metab; 2004 May; 89(5):2360-4. PubMed ID: 15126564
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. Berardinelli Seip Syndrome: A rare case report.
    Ashraf S; Masood S; Naz F; Rashid J
    J Pak Med Assoc; 2022 May; 72(5):969-971. PubMed ID: 35713067
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A Patient with Berardinelli-Seip Syndrome, Novel
    Oswiecimska J; Dawidziuk M; Gambin T; Ziora K; Marek M; Rzonca S; Guilbride DL; Jhangiani SN; Obuchowicz A; Sikora A; Lupski JR; Wiszniewski W; Gawlinski P
    J Clin Res Pediatr Endocrinol; 2019 Sep; 11(3):319-326. PubMed ID: 30563316
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.
    Haghighi A; Razzaghy-Azar M; Talea A; Sadeghian M; Ellard S; Haghighi A
    Eur J Med Genet; 2012 Nov; 55(11):620-4. PubMed ID: 22902344
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
    Antuna-Puente B; Boutet E; Vigouroux C; Lascols O; Slama L; Caron-Debarle M; Khallouf E; Lévy-Marchal C; Capeau J; Bastard JP; Magré J
    J Clin Endocrinol Metab; 2010 Mar; 95(3):1463-8. PubMed ID: 20097706
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
    Schrauwen I; Szelinger S; Siniard AL; Kurdoglu A; Corneveaux JJ; Malenica I; Richholt R; Van Camp G; De Both M; Swaminathan S; Turk M; Ramsey K; Craig DW; Narayanan V; Huentelman MJ
    PLoS One; 2015; 10(7):e0131797. PubMed ID: 26176221
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.
    Pelosini C; Martinelli S; Bagattini B; Pucci E; Fierabracci P; Scartabelli G; Salvetti G; Vitti P; Maffei M; Pinchera A; Santini F
    Acta Diabetol; 2011 Sep; 48(3):243-6. PubMed ID: 21744063
    [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. 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]  

    [Previous]   [Next]    [New Search]
    of 13.