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Journal Abstract Search

194 related items for PubMed ID: 36054182

  • 1. Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats.
    Van Poucke M, Van Renterghem E, Peterson ME, van den Berg MF, Stock E, Peelman LJ, Daminet S.
    J Vet Intern Med; 2022 Sep; 36(5):1597-1606. PubMed ID: 36054182
    [Abstract] [Full Text] [Related]

  • 2. Congenital hypothyroidism of dogs and cats: a review.
    Bojanic K, Acke E, Jones BR.
    N Z Vet J; 2011 May; 59(3):115-22. PubMed ID: 21541884
    [Abstract] [Full Text] [Related]

  • 3. The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism.
    Zhang RJ, Sun F, Chen F, Fang Y, Yan CY, Zhang CR, Ying YX, Wang Z, Zhang CX, Wu FY, Han B, Liang J, Zhao SX, Song HD.
    Mol Cell Endocrinol; 2020 Apr 15; 506():110761. PubMed ID: 32088313
    [Abstract] [Full Text] [Related]

  • 4. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
    Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G.
    J Clin Endocrinol Metab; 2008 Feb 15; 93(2):627-33. PubMed ID: 18029453
    [Abstract] [Full Text] [Related]

  • 5. Spontaneous primary hypothyroidism in 7 adult cats.
    Peterson ME, Carothers MA, Gamble DA, Rishniw M.
    J Vet Intern Med; 2018 Nov 15; 32(6):1864-1873. PubMed ID: 30294940
    [Abstract] [Full Text] [Related]

  • 6. Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
    Stoupa A, Chaabane R, Guériouz M, Raynaud-Ravni C, Nitschke P, Bole-Feysot C, Mnif M, Ammar Keskes L, Hachicha M, Belguith N, Polak M, Carré A.
    Thyroid; 2018 Jul 15; 28(7):941-944. PubMed ID: 29790453
    [Abstract] [Full Text] [Related]

  • 7. Congenital Feline Hypothyroidism With Partially Erupted Adult Dentition in a 10-Month-Old Male Neutered Domestic Shorthair Cat: A Case Report.
    Jacobson T, Rochette J.
    J Vet Dent; 2018 Sep 15; 35(3):178-186. PubMed ID: 30168381
    [Abstract] [Full Text] [Related]

  • 8. Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.
    Arteaga-Jacobo MC, Roco-Videla Á, Villota Arcos C, González-Hormazábal P, Gonzalo-Castro V, Pérez-Flores MV.
    Medicina (Kaunas); 2024 Jul 16; 60(7):. PubMed ID: 39064575
    [Abstract] [Full Text] [Related]

  • 9. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism.
    Tanaka T, Aoyama K, Suzuki A, Saitoh S, Mizuno H.
    J Pediatr Endocrinol Metab; 2020 May 29; 33(6):691-701. PubMed ID: 32469330
    [Abstract] [Full Text] [Related]

  • 10. CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene.
    Pettigrew R, Fyfe JC, Gregory BL, Lipsitz D, Delahunta A, Summers BA, Shelton GD.
    Vet Pathol; 2007 Jan 29; 44(1):50-6. PubMed ID: 17197623
    [Abstract] [Full Text] [Related]

  • 11. Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
    Naqvi SF, Yıldız-Bölükbaşı E, Afzal M, Nalbant G, Mumtaz S, Tolun A, Malik S.
    Yale J Biol Med; 2023 Sep 29; 96(3):347-365. PubMed ID: 37780999
    [Abstract] [Full Text] [Related]

  • 12. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
    Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J.
    J Clin Endocrinol Metab; 2006 Jul 29; 91(7):2678-81. PubMed ID: 16684826
    [Abstract] [Full Text] [Related]

  • 13. Congenital hypothyroidism with goiter in Tenterfield terriers.
    Dodgson SE, Day R, Fyfe JC.
    J Vet Intern Med; 2012 Jul 29; 26(6):1350-7. PubMed ID: 23113744
    [Abstract] [Full Text] [Related]

  • 14. A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.
    Baş VN, Aycan Z, Cangul H, Kendall M, Ağladıoğlu SY, Çetinkaya S, Maher ER.
    J Pediatr Endocrinol Metab; 2014 Mar 29; 27(3-4):383-7. PubMed ID: 24158420
    [Abstract] [Full Text] [Related]

  • 15. A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.
    Cangul H, Darendeliler F, Saglam Y, Kucukemre B, Kendall M, Boelaert K, Barrett TG, Maher ER.
    Endocr Res; 2015 Mar 29; 40(3):146-50. PubMed ID: 25328990
    [Abstract] [Full Text] [Related]

  • 16. Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.
    Zhang HY, Wu FY, Zhang CX, Wu CY, Cui RJ, Liu XY, Yang L, Zhang Y, Sun F, Cheng F, Yang RM, Song HD, Zhao SX.
    Thyroid; 2024 Mar 29; 34(3):324-335. PubMed ID: 38183624
    [Abstract] [Full Text] [Related]

  • 17. Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.
    Deeb A, Elkadry I, Attia S, Al Suwaidi H, Obaid L, Schoenmakers NA.
    J Pediatr Endocrinol Metab; 2016 Jul 01; 29(7):801-6. PubMed ID: 27060741
    [Abstract] [Full Text] [Related]

  • 18. Iodide handling disorders (NIS, TPO, TG, IYD).
    Targovnik HM, Citterio CE, Rivolta CM.
    Best Pract Res Clin Endocrinol Metab; 2017 Mar 01; 31(2):195-212. PubMed ID: 28648508
    [Abstract] [Full Text] [Related]

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  • 20. Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.
    Simm D, Pfarr N, Pohlenz J, Prawitt D, Dörr HG.
    Acta Paediatr; 2009 Jun 01; 98(6):1057-61. PubMed ID: 19243353
    [Abstract] [Full Text] [Related]

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