201 related articles for article (PubMed ID: 25850411)
1. 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]
2. Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome.
Swiston CJ; Nash DL
J Child Neurol; 2018 Jul; 33(8):525-527. PubMed ID: 29714107
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. [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]
6. 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]
7. Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P; Demeneix BA; Remaud S
Front Endocrinol (Lausanne); 2020; 11():283. PubMed ID: 32477268
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.
Langley KG; Trau S; Bean LJ; Narravula A; Schrier Vergano SA
Am J Med Genet A; 2015 May; 167A(5):1117-20. PubMed ID: 25755011
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.
Solazzi R; Nanni G; Esposito S; Estienne M; Freri E; Zibordi F; Canafoglia L; Castellotti B; Granata T
Pediatr Neurol; 2023 Oct; 147():24-27. PubMed ID: 37542971
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. [The importance of thyroid hormone transporters].
Braun D
Nuklearmedizin; 2015; 54(3):77-81. PubMed ID: 26105714
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Quesada-Espinosa JF; Garzón-Lorenzo L; Lezana-Rosales JM; Gómez-Rodríguez MJ; Sánchez-Calvin MT; Palma-Milla C; Gómez-Manjón I; Hidalgo-Mayoral I; Pérez de la Fuente R; Arteche-López A; Álvarez-Mora MI; Camacho-Salas A; Cruz-Rojo J; Lázaro-Rodríguez I; Morales-Conejo M; Nuñez-Enamorado N; Bustamante-Aragones A; Simón de Las Heras R; Gomez-Cano MA; Ramos-Gómez P; Sierra-Tomillo O; Juárez-Rufián A; Gallego-Merlo J; Rausell-Sánchez L; Moreno-García M; Sánchez Del Pozo J
Neurogenetics; 2021 Oct; 22(4):343-346. PubMed ID: 34296368
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]