BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 25721873)

  • 1. Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
    Jelani M; Ahmed S; Almramhi MM; Mohamoud HS; Bakur K; Anshasi W; Wang J; Al-Aama JY
    Eur J Med Genet; 2015 Apr; 58(4):216-21. PubMed ID: 25721873
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
    Rajab A; Straub V; McCann LJ; Seelow D; Varon R; Barresi R; Schulze A; Lucke B; Lützkendorf S; Karbasiyan M; Bachmann S; Spuler S; Schuelke M
    PLoS Genet; 2010 Mar; 6(3):e1000874. PubMed ID: 20300641
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
    Ardissone A; Bragato C; Caffi L; Blasevich F; Maestrini S; Bianchi ML; Morandi L; Moroni I; Mora M
    BMC Med Genet; 2013 Sep; 14():89. PubMed ID: 24024685
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution.
    Adiyaman SC; V Schnurbein J; De Laffolie J; Hahn A; Siebert R; Wabitsch M; Kamrath C
    J Pediatr Endocrinol Metab; 2022 Jul; 35(7):946-952. PubMed ID: 35405042
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
    Dwianingsih EK; Takeshima Y; Itoh K; Yamauchi Y; Awano H; Malueka RG; Nishida A; Ota M; Yagi M; Matsuo M
    Mol Genet Metab; 2010; 101(2-3):233-7. PubMed ID: 20638880
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. A new mutation in the
    Mancioppi V; Daffara T; Romanisio M; Ceccarini G; Pelosini C; Santini F; Bellone S; Mellone S; Baricich A; Rabbone I; Aimaretti G; Akinci B; Giordano M; Prodam F
    Front Endocrinol (Lausanne); 2023; 14():1212729. PubMed ID: 37501786
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
    Jelani M; Kang C; Mohamoud HS; Al-Rehaili R; Almramhi MM; Serafi R; Yang H; Al-Aama JY; Naeem M; Alkhiary YM
    Arch Oral Biol; 2016 Jul; 67():28-33. PubMed ID: 27019138
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
    Akinci G; Topaloglu H; Akinci B; Onay H; Karadeniz C; Ergul Y; Demir T; Ozcan EE; Altay C; Atik T; Garg A
    Eur J Med Genet; 2016 Jun; 59(6-7):320-4. PubMed ID: 27167729
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.