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 *

122 related articles for article (PubMed ID: 8458533)

  • 1. Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors.
    van der Vorm ER; Kuipers A; Bonenkamp JW; Kleijer WJ; Van Maldergem L; Herwig J; Maassen JA
    Diabetologia; 1993 Feb; 36(2):172-4. PubMed ID: 8458533
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Altered expression and function of the insulin receptor in a family with lipoatrophic diabetes.
    Kriauciunas KM; Kahn CR; Muller-Wieland D; Reddy SS; Taub R
    J Clin Endocrinol Metab; 1988 Dec; 67(6):1284-93. PubMed ID: 2903867
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tyrosine-kinase defect of the insulin receptor in cultured fibroblasts from patients with lipoatropic diabetes.
    Magré J; Grigorescu F; Reynet C; Caron M; Capony JP; White MF; Picard J; Mirouze J; Capeau J
    J Clin Endocrinol Metab; 1989 Jul; 69(1):142-50. PubMed ID: 2543688
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Berardinelli-Seip congenital lipodystrophy.
    Mandal K; Aneja S; Seth A; Khan A
    Indian Pediatr; 2006 May; 43(5):440-5. PubMed ID: 16735770
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance.
    Longo N; Langley SD; Griffin LD; Elsas LJ
    Am J Hum Genet; 1992 May; 50(5):998-1007. PubMed ID: 1315125
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.
    Kadowaki T; Kadowaki H; Taylor SI
    Proc Natl Acad Sci U S A; 1990 Jan; 87(2):658-62. PubMed ID: 2300553
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mutation (Trp1193-->Leu1193) in the tyrosine kinase domain of the insulin receptor associated with type A syndrome of insulin resistance.
    Iwanishi M; Haruta T; Takata Y; Ishibashi O; Sasaoka T; Egawa K; Imamura T; Naitou K; Itazu T; Kobayashi M
    Diabetologia; 1993 May; 36(5):414-22. PubMed ID: 8390949
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Do you know this syndrome? Berardinelli-Seip syndrome.
    Machado PV; Daxbacher EL; Obadia DL; Cunha EF; Alves Mde F; Mann D
    An Bras Dermatol; 2013; 88(6):1011-3. PubMed ID: 24474121
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.
    Müller-Wieland D; van der Vorm ER; Streicher R; Krone W; Seemanova E; Dreyer M; Rüdiger HW; Rosipal SR; Maassen JA
    Diabetologia; 1993 Nov; 36(11):1168-74. PubMed ID: 8270132
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Lipoatrophic diabetes: genetic exclusion of the insulin receptor gene.
    Desbois-Mouthon C; Magré J; Amselem S; Reynet C; Blivet MJ; Goossens M; Capeau J; Besmond C
    J Clin Endocrinol Metab; 1995 Jan; 80(1):314-9. PubMed ID: 7829633
    [TBL] [Abstract][Full Text] [Related]  

  • 11. NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.
    Cocozza S; Porcellini A; Riccardi G; Monticelli A; Condorelli G; Ferrara A; Pianese L; Miele C; Capaldo B; Beguinot F
    Diabetes; 1992 Apr; 41(4):521-6. PubMed ID: 1607076
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.
    Moller DE; Cohen O; Yamaguchi Y; Assiz R; Grigorescu F; Eberle A; Morrow LA; Moses AC; Flier JS
    Diabetes; 1994 Feb; 43(2):247-55. PubMed ID: 8288049
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome).
    Viégas RF; Diniz RV; Viégas TM; Lira EB; Almeida DR
    Arq Bras Cardiol; 2000 Sep; 75(3):243-8. PubMed ID: 11018810
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.
    Gomes KB; Pardini VC; Ferreira AC; Fernandes AP
    J Inherit Metab Dis; 2005; 28(6):1123-31. PubMed ID: 16435205
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Insulin-like growth factor-related genes, receptors, and binding proteins in cultured human retinal pigment epithelial cells.
    Takagi H; Yoshimura N; Tanihara H; Honda Y
    Invest Ophthalmol Vis Sci; 1994 Mar; 35(3):916-23. PubMed ID: 7510274
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Insulin resistance associated with decreased levels of insulin-receptor messenger ribonucleic acid: evidence of a de novo mutation in the maternal allele.
    Suzuki Y; Hatanaka Y; Taira M; Shimada F; Hashimoto N; Takayanagi M; Taylor SI; Makino H; Yoshida S
    J Clin Endocrinol Metab; 1995 Apr; 80(4):1214-20. PubMed ID: 7714091
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Insulin resistance associated with substitution of histidine for arginine 252 in the alpha-subunit of the human insulin receptor: trial of insulin-like growth factor I injection therapy to enhance insulin sensitivity.
    Nakashima N; Umeda F; Yanase T; Nawata H
    J Clin Endocrinol Metab; 1995 Dec; 80(12):3662-7. PubMed ID: 8530617
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents.
    Van Maldergem L; Bachy A; Feldman D; Bouillon R; Maassen J; Dreyer M; Rey R; Holm C; Gillerot Y
    Am J Med Genet; 1996 Aug; 64(3):506-13. PubMed ID: 8862631
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Insulin receptor messenger ribonucleic acid sequence alterations detected by ribonuclease cleavage in patients with syndromes of insulin resistance.
    Goldstein BJ; Kahn CR
    J Clin Endocrinol Metab; 1989 Jul; 69(1):15-24. PubMed ID: 2732294
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy).
    Vorwerk P; Christoffersen CT; Müller J; Vestergaard H; Pedersen O; De Meyts P
    Horm Res; 1999; 52(5):211-20. PubMed ID: 10844410
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.