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Journal Abstract Search

161 related items for PubMed ID: 36890856

  • 1. A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
    Charnay T, Mougel G, Amouroux C, Gueorguieva I, Joubert F, Pertuit M, Reynaud R, Barlier A, Brue T, Saveanu A.
    Front Endocrinol (Lausanne); 2022; 13():1080649. PubMed ID: 36890856
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  • 2. A Rare Cause of Adrenal Insufficiency - Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature.
    Kardelen Al AD, Poyrazoğlu Ş, Aslanger A, Yeşil G, Ceylaner S, Baş F, Darendeliler F.
    Horm Res Paediatr; 2019; 92(6):395-403. PubMed ID: 32344415
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  • 6. [Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency].
    Wu S, Chen Q, Shen L, Wei H, Chen Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan 10; 38(1):59-62. PubMed ID: 33423260
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  • 7. Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
    Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA.
    Endocrinol Diabetes Metab Case Rep; 2021 Sep 01; 2021():. PubMed ID: 34564059
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  • 8. Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
    Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J.
    J Clin Endocrinol Metab; 2005 Mar 01; 90(3):1323-31. PubMed ID: 15613420
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  • 9. Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
    Couture C, Saveanu A, Barlier A, Carel JC, Fassnacht M, Flück CE, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S.
    J Clin Endocrinol Metab; 2012 Mar 01; 97(3):E486-95. PubMed ID: 22170728
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  • 11. TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
    Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJ.
    Eur J Endocrinol; 2004 Oct 01; 151(4):463-5. PubMed ID: 15476446
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  • 12. A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
    Akcan N, Serakıncı N, Turkgenc B, Bundak R, Bahceciler N, Temel SG.
    Front Endocrinol (Lausanne); 2017 Oct 01; 8():64. PubMed ID: 28458651
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  • 20. A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period.
    Vieira IH, Mourinho Bala N, Ramos F, Dinis I, Cardoso R, Caetano JS, Rodrigues D, Paiva I, Mirante A.
    Endocrinol Diabetes Metab Case Rep; 2022 Sep 01; 2022():. PubMed ID: 36070412
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