BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 21468520)

  • 1. [Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
    Barra CB; Savoldelli RD; Manna TD; Kim CA; Magre J; Porta G; Setian N; Damiani D
    Arq Bras Endocrinol Metabol; 2011 Feb; 55(1):54-9. PubMed ID: 21468520
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
    Boutet E; El Mourabit H; Prot M; Nemani M; Khallouf E; Colard O; Maurice M; Durand-Schneider AM; Chrétien Y; Grès S; Wolf C; Saulnier-Blache JS; Capeau J; Magré J
    Biochimie; 2009 Jun; 91(6):796-803. PubMed ID: 19278620
    [TBL] [Abstract][Full Text] [Related]  

  • 4. AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
    Rostami P; Nakhaeimoghadam M; Bijani FM; Sotoudeh A; Rabbani A; Hilbert P; Rezaei N
    Ann Endocrinol (Paris); 2013 Feb; 74(1):59-61. PubMed ID: 23337016
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
    Kim CA; Delépine M; Boutet E; El Mourabit H; Le Lay S; Meier M; Nemani M; Bridel E; Leite CC; Bertola DR; Semple RK; O'Rahilly S; Dugail I; Capeau J; Lathrop M; Magré J
    J Clin Endocrinol Metab; 2008 Apr; 93(4):1129-34. PubMed ID: 18211975
    [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. 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]  

  • 8. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel
    Ceccarini G; Magno S; Pelosini C; Ferrari F; Sessa MR; Scabia G; Maffei M; Jéru I; Lascols O; Vigouroux C; Santini F
    Front Endocrinol (Lausanne); 2020; 11():39. PubMed ID: 32117065
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).
    Rubaie KA; Raef H; Stone DU; Kozak I
    Middle East Afr J Ophthalmol; 2019; 26(4):250-252. PubMed ID: 32153340
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy.
    Beltrand J; Beregszaszi M; Chevenne D; Sebag G; De Kerdanet M; Huet F; Polak M; Tubiana-Rufi N; Lacombe D; De Paoli AM; Levy-Marchal C
    Pediatrics; 2007 Aug; 120(2):e291-6. PubMed ID: 17671040
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Berardinelli-Seip syndrome: highlight of treatment challenge.
    Ferraria N; Pedrosa C; Amaral D; Lopes L
    BMJ Case Rep; 2013 Jan; 2013():. PubMed ID: 23362058
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
    Craveiro Sarmento AS; Ferreira LC; Lima JG; de Azevedo Medeiros LB; Barbosa Cunha PT; Agnez-Lima LF; Galvão Ururahy MA; de Melo Campos JTA
    Mutat Res Rev Mutat Res; 2019; 781():30-52. PubMed ID: 31416577
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome.
    Solanki M; Patil SS; Baweja DK; Noorani H; Pk S
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod; 2008 Jan; 105(1):e41-7. PubMed ID: 18155601
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Therapy resistant diabetes mellitus and lipodystrophy: leptin therapy leads to improvement].
    Jazet IM; Jonker JT; Wijngaarden MA; Lamb H; Smelt AH
    Ned Tijdschr Geneeskd; 2013; 157(4):A5482. PubMed ID: 23343738
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
    Gomes KB; Pardini VC; Fernandes AP
    Clin Chim Acta; 2009 Apr; 402(1-2):1-6. PubMed ID: 19167372
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
    Ren M; Shi J; Jia J; Guo Y; Ni X; Shi T
    Orphanet J Rare Dis; 2020 Apr; 15(1):108. PubMed ID: 32349771
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy.
    Cortés VA; Curtis DE; Sukumaran S; Shao X; Parameswara V; Rashid S; Smith AR; Ren J; Esser V; Hammer RE; Agarwal AK; Horton JD; Garg A
    Cell Metab; 2009 Feb; 9(2):165-76. PubMed ID: 19187773
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.