BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 35351089)

  • 21. 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]  

  • 22. 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]  

  • 23. Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy.
    Lima GEDCP; Fernandes VO; Montenegro APDR; Carvalho AB; Karbage LBAS; Aguiar LB; Macedo MSR; Ferreira LAA; Montenegro Júnior RM
    Arch Endocrinol Metab; 2019 Feb; 63(1):79-83. PubMed ID: 30864635
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Ablation of
    Mcilroy GD; Mitchell SE; Han W; Delibegović M; Rochford JJ
    Dis Model Mech; 2020 Jan; 13(1):. PubMed ID: 31848133
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
    Patni N; Garg A
    Nat Rev Endocrinol; 2015 Sep; 11(9):522-34. PubMed ID: 26239609
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. [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]  

  • 33. Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
    Sánchez-Iglesias S; Crocker M; O'Callaghan M; Darling A; García-Cazorla A; Domingo-Jiménez R; Castro A; Fernández-Pombo A; Ruibal Á; Aguiar P; Garrido-Pumar M; Rodríguez-Núñez A; Álvarez-Escudero J; Brown RJ; Araújo-Vilar D
    Neurogenetics; 2019 May; 20(2):73-82. PubMed ID: 30903322
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
    Costa S; Sampaio L; Berta Sousa A; Xing C; Agarwal AK; Garg A
    J Clin Endocrinol Metab; 2022 Aug; 107(9):2433-2438. PubMed ID: 35857714
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Misdiagnosis of Paget's Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report.
    Freire EBL; Madeira MP; Lima GEDCP; Fernandes VO; Aguiar LB; Fontenele JPU; Montenegro APDR; Marques TF; Ozório RG; d'Alva CB; Montenegro RM
    Front Endocrinol (Lausanne); 2021; 12():683697. PubMed ID: 34262529
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
    Opri R; Fabrizi GM; Cantalupo G; Ferrarini M; Simonati A; Dalla Bernardina B; Darra F
    Seizure; 2016 Nov; 42():1-6. PubMed ID: 27632409
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.