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Journal Abstract Search

292 related items for PubMed ID: 25146893

  • 21. Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism.
    Khatami M, Heidari MM, Tabesh F, Ordooei M, Salehifar Z.
    J Pediatr Endocrinol Metab; 2017 Aug 28; 30(8):857-862. PubMed ID: 28749785
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  • 22. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.
    Meeus L, Gilbert B, Rydlewski C, Parma J, Roussie AL, Abramowicz M, Vilain C, Christophe D, Costagliola S, Vassart G.
    J Clin Endocrinol Metab; 2004 Sep 28; 89(9):4285-91. PubMed ID: 15356023
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  • 23. Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.
    Mahjoubi F, Mohammadi MM, Montazeri M, Aminii M, Hashemipour M.
    Arq Bras Endocrinol Metabol; 2010 Aug 28; 54(6):555-9. PubMed ID: 20857061
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  • 26. A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
    França MM, Reeve L, Dumitrescu AM, de Bock M, Refetoff S.
    Thyroid; 2022 Aug 28; 32(8):1000-1002. PubMed ID: 35611983
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  • 28. Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
    Hermanns P, Grasberger H, Cohen R, Freiberg C, Dörr HG, Refetoff S, Pohlenz J.
    Thyroid; 2013 Jul 28; 23(7):791-6. PubMed ID: 23308388
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  • 29. Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
    Camats N, Baz-Redón N, Fernández-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, Antolín M, Garcia-Arumí E, Blasco-Pérez L, Paramonov I, Mogas E, Soler-Colomer L, Yeste D.
    J Clin Endocrinol Metab; 2021 Jan 01; 106(1):e152-e170. PubMed ID: 33029631
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  • 31. Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.
    Di Palma T, Zampella E, Filippone MG, Macchia PE, Ris-Stalpers C, de Vroede M, Zannini M.
    Clin Endocrinol (Oxf); 2010 Dec 01; 73(6):808-14. PubMed ID: 20718765
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  • 32. A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.
    Carvalho A, Hermanns P, Rodrigues AL, Sousa I, Anselmo J, Bikker H, Cabral R, Pereira-Duarte C, Mota-Vieira L, Pohlenz J.
    Thyroid; 2013 Sep 01; 23(9):1074-8. PubMed ID: 23647375
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  • 33. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
    Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S.
    Mol Endocrinol; 2005 Jul 01; 19(7):1779-91. PubMed ID: 15718293
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  • 34. Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis.
    Ferrara AM, De Sanctis L, Rossi G, Capuano S, Del Prete G, Zampella E, Gianino P, Corrias A, Fenzi G, Zannini M, Macchia PE.
    J Endocrinol Invest; 2009 Mar 01; 32(3):238-41. PubMed ID: 19542741
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  • 35. [Molecular-genetic aspects of congenital hypothyroidism].
    Lacka K, Ogrodowicz A.
    Med Wieku Rozwoj; 2004 Mar 01; 8(3 Pt 2):678-89. PubMed ID: 15858240
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  • 37. Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany.
    Lanzerath K, Bettendorf M, Haag C, Kneppo C, Schulze E, Grulich-Henn J.
    Horm Res; 2006 Mar 01; 66(2):96-100. PubMed ID: 16763387
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  • 38. [Pathogenic TSHR variants in children with thyroid dysgenesis].
    Shreder EV, Vadina TA, Solodovnikova EN, Zakharova VV, Degtyarev MV, Konyukhova MB, Sergeeva NV, Bezlepkina OB.
    Probl Endokrinol (Mosk); 2023 Feb 25; 69(1):76-85. PubMed ID: 36842079
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  • 39. A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.
    Zou H, Chai J, Liu S, Zang H, Yu X, Tian L, Li H, Han B.
    Int J Clin Exp Pathol; 2015 Feb 25; 8(9):11434-9. PubMed ID: 26617871
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  • 40. Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.
    Calaciura F, Miscio G, Coco A, Leonardi D, Cisternino C, Regalbuto C, Bozzali M, Maiorana R, Ranieri A, Carta A, Buscema M, Trischitta V, Sava L, Tassi V.
    Thyroid; 2002 Nov 25; 12(11):945-51. PubMed ID: 12490071
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