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202 related items for PubMed ID: 19243353

  • 1. 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; 98(6):1057-61. PubMed ID: 19243353
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  • 3. 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; 93(2):627-33. PubMed ID: 18029453
    [Abstract] [Full Text] [Related]

  • 4. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
    Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S.
    Clin Endocrinol (Oxf); 2007 May; 66(5):695-702. PubMed ID: 17381485
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  • 5. Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
    Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM.
    Clin Endocrinol (Oxf); 2012 Apr; 76(4):568-76. PubMed ID: 21981063
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  • 6. 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; 27(3-4):383-7. PubMed ID: 24158420
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  • 7. 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; 91(7):2678-81. PubMed ID: 16684826
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  • 8. Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
    Tajima T, Tsubaki J, Fujieda K.
    Endocr J; 2005 Oct; 52(5):643-5. PubMed ID: 16284446
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  • 9. Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
    Rivolta CM, Louis-Tisserand M, Varela V, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM.
    Clin Endocrinol (Oxf); 2007 Aug; 67(2):238-46. PubMed ID: 17547680
    [Abstract] [Full Text] [Related]

  • 10. Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
    Pfarr N, Musholt TJ, Musholt PB, Brzezinska R, Pohlenz J.
    Clin Endocrinol (Oxf); 2006 May; 64(5):514-8. PubMed ID: 16649969
    [Abstract] [Full Text] [Related]

  • 11. Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
    Ozbek MN, Uslu AB, Onenli-Mungan N, Yuksel B, Pohlenz J, Topaloglu AK.
    J Pediatr Endocrinol Metab; 2009 Nov; 22(11):1033-9. PubMed ID: 20101889
    [Abstract] [Full Text] [Related]

  • 12. Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.
    Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.
    Endocr J; 2017 Nov 29; 64(11):1087-1097. PubMed ID: 28867693
    [Abstract] [Full Text] [Related]

  • 13. Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
    Rodrigues TMB, Silva MMDC, Freitas MM, Duarte ZMC, Frutuoso VS, Rodrigues MT, Rubio IGS.
    Front Endocrinol (Lausanne); 2021 Nov 29; 12():671659. PubMed ID: 34220711
    [Abstract] [Full Text] [Related]

  • 14. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
    Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G.
    Thyroid; 2003 Dec 29; 13(12):1145-51. PubMed ID: 14751036
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  • 15. Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.
    Fuchs O, Pfarr N, Pohlenz J, Thanner F, Schmidt H.
    J Pediatr Endocrinol Metab; 2008 Nov 29; 21(11):1093-7. PubMed ID: 19189706
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  • 16. Novel genetic variants in the TPO gene cause congenital hypothyroidism.
    Ma SG, Qiu YL, Zhu H, Liu H, Li Q, Ji CM.
    Scand J Clin Lab Invest; 2015 Nov 29; 75(8):633-7. PubMed ID: 26174974
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  • 17. Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.
    Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, Biebermann H.
    Exp Clin Endocrinol Diabetes; 1996 Nov 29; 104 Suppl 4():121-3. PubMed ID: 8981018
    [Abstract] [Full Text] [Related]

  • 18. Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
    Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Moya CM, Domené S, Varela V, Targovnik HM.
    Hum Mutat; 2003 Sep 29; 22(3):259. PubMed ID: 12938097
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  • 19. A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
    Cangül H, Doğan M, Üstek D.
    J Clin Res Pediatr Endocrinol; 2015 Dec 29; 7(4):323-8. PubMed ID: 26777044
    [Abstract] [Full Text] [Related]

  • 20. [Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
    Li HF, Liu YX, Xie JS, Chen B, Li SL.
    Zhonghua Er Ke Za Zhi; 2011 Aug 29; 49(8):626-30. PubMed ID: 22093430
    [Abstract] [Full Text] [Related]

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