BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

291 related articles for article (PubMed ID: 23744248)

  • 1. [MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature].
    López-Marín L; Martín-Belinchón M; Gutiérrez-Solana LG; Morte-Molina B; Duat-Rodríguez A; Bernal J
    Rev Neurol; 2013 Jun; 56(12):615-22. PubMed ID: 23744248
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.
    Kim JH; Kim YM; Yum MS; Choi JH; Lee BH; Kim GH; Yoo HW
    Horm Res Paediatr; 2015; 83(4):288-92. PubMed ID: 25896225
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.
    Zung A; Visser TJ; Uitterlinden AG; Rivadeneira F; Friesema EC
    Eur J Endocrinol; 2011 Nov; 165(5):823-30. PubMed ID: 21896621
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
    Rodrigues F; Grenha J; Ortez C; Nascimento A; Morte B; M-Belinchón M; Armstrong J; Colomer J
    BMC Pediatr; 2014 Oct; 14():252. PubMed ID: 25284458
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene.
    Rego T; Lado CG; Rodríguez PC; Santos FS; Angueira FB; Castro-Feijóo L; Conde JB; Castro-Gago M
    Hormones (Athens); 2017 Apr; 16(2):194-199. PubMed ID: 28742507
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
    Novara F; Groeneweg S; Freri E; Estienne M; Reho P; Matricardi S; Castellotti B; Visser WE; Zuffardi O; Visser TJ
    Hum Mutat; 2017 Mar; 38(3):260-264. PubMed ID: 27805744
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.
    Boccone L; Dessì V; Meloni A; Loudianos G
    Eur J Med Genet; 2013 Apr; 56(4):207-10. PubMed ID: 23419639
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.
    Azzolini S; Nosadini M; Balzarin M; Sartori S; Suppiej A; Mardari R; Greggio NA; Toldo I
    Brain Dev; 2014 Sep; 36(8):716-20. PubMed ID: 24268987
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.
    Armour CM; Kersseboom S; Yoon G; Visser TJ
    PLoS One; 2015; 10(10):e0139343. PubMed ID: 26426690
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination.
    Lee JY; Kim MJ; Deliyanti D; Azari MF; Rossello F; Costin A; Ramm G; Stanley EG; Elefanty AG; Wilkinson-Berka JL; Petratos S
    EBioMedicine; 2017 Nov; 25():122-135. PubMed ID: 29111262
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.
    Anık A; Kersseboom S; Demir K; Catlı G; Yiş U; Böber E; van Mullem A; van Herebeek RE; Hız S; Abacı A; Visser TJ
    Horm Res Paediatr; 2014; 82(4):261-71. PubMed ID: 25247785
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
    Iwayama H; Kakita H; Iwasa M; Adachi S; Takano K; Kikuchi M; Fujisawa Y; Osaka H; Yamada Y; Okumura A; Hirani K; Weiss RE; Refetoff S
    Thyroid; 2021 Sep; 31(9):1316-1321. PubMed ID: 34049438
    [No Abstract]   [Full Text] [Related]  

  • 13. Disorder of thyroid hormone transport into the tissues.
    Groeneweg S; Visser WE; Visser TJ
    Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):241-253. PubMed ID: 28648511
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
    Kersseboom S; Kremers GJ; Friesema EC; Visser WE; Klootwijk W; Peeters RP; Visser TJ
    Mol Endocrinol; 2013 May; 27(5):801-13. PubMed ID: 23550058
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.
    La Piana R; Vanasse M; Brais B; Bernard G
    J Child Neurol; 2015 Sep; 30(10):1371-4. PubMed ID: 25380603
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.
    Sriram S; Shahid N; Mysliwiec D D; Lichter-Konecki U; Yatsenko SA; Garibaldi LR
    J Pediatr Endocrinol Metab; 2024 Apr; 37(4):371-374. PubMed ID: 38345890
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.
    Kobayashi S; Onuma A; Inui T; Wakusawa K; Tanaka S; Shimojima K; Yamamoto T; Haginoya K
    Pediatr Neurol; 2014 Sep; 51(3):414-6. PubMed ID: 25160547
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by
    Refetoff S; Pappa T; Williams MK; Matheus MG; Liao XH; Hansen K; Nicol L; Pierce M; Blasco PA; Wiebers Jensen M; Bernal J; Weiss RE; Dumitrescu AM; LaFranchi S
    Thyroid; 2021 May; 31(5):713-720. PubMed ID: 32746752
    [No Abstract]   [Full Text] [Related]  

  • 19. [Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome].
    Wang J; Zhang Q; Bao X; Chen Y; Yu S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):484-488. PubMed ID: 30098239
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [The importance of thyroid hormone transporters].
    Braun D
    Nuklearmedizin; 2015; 54(3):77-81. PubMed ID: 26105714
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.