176 related articles for article (PubMed ID: 25497665)
1. [Thyroid hormone resistance may course hypotonia in infancy].
Pivkovska J; Born AP; Nielsen CT
Ugeskr Laeger; 2014 Dec; 176(25A):. PubMed ID: 25497665
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Remerand G; Boespflug-Tanguy O; Tonduti D; Touraine R; Rodriguez D; Curie A; Perreton N; Des Portes V; Sarret C;
Dev Med Child Neurol; 2019 Dec; 61(12):1439-1447. PubMed ID: 31410843
[TBL] [Abstract][Full Text] [Related]
5. Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.
Gagliardi L; Nataren N; Feng J; Schreiber AW; Hahn CN; Conwell LS; Coman D; Scott HS
Am J Med Genet A; 2015 Aug; 167A(8):1872-6. PubMed ID: 25850411
[TBL] [Abstract][Full Text] [Related]
6. [A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation].
Tang YL; Peng J; Xiong J; Pang N; Wu LW; Yang HY; Kessi M; Yin F
Zhonghua Er Ke Za Zhi; 2018 Nov; 56(11):829-834. PubMed ID: 30392207
[No Abstract] [Full Text] [Related]
7. 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]
8. A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.
Chen X; Liu L; Zeng C
BMC Pediatr; 2022 Apr; 22(1):180. PubMed ID: 35382784
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Thyroid hormone transporters and resistance.
Visser TJ
Endocr Dev; 2013; 24():1-10. PubMed ID: 23392090
[TBL] [Abstract][Full Text] [Related]
11. Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.
Guillén-Yunta M; Valcárcel-Hernández V; García-Aldea Á; Soria G; García-Verdugo JM; Montero-Pedrazuela A; Guadaño-Ferraz A
Fluids Barriers CNS; 2023 Nov; 20(1):79. PubMed ID: 37924081
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. 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]
14. Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.
Islam MS; Namba N; Ohata Y; Fujiwara M; Nakano C; Takeyari S; Miyata K; Nakano Y; Yamamoto K; Nakayama H; Kitaoka T; Kubota T; Ozono K
Endocr J; 2019 Jan; 66(1):19-29. PubMed ID: 30369548
[TBL] [Abstract][Full Text] [Related]
15. Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
Choi JH; Cho JH; Kim JH; Yoo EG; Kim GH; Yoo HW
Horm Res Paediatr; 2018; 90(5):283-290. PubMed ID: 30497070
[TBL] [Abstract][Full Text] [Related]
16. Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation.
Zada D; Tovin A; Lerer-Goldshtein T; Vatine GD; Appelbaum L
PLoS Genet; 2014 Sep; 10(9):e1004615. PubMed ID: 25255244
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Elevated TSH levels in a mentally retarded boy.
Crushell E; Reardon W
Eur J Pediatr; 2010 May; 169(5):573-5. PubMed ID: 19936787
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]