| 1 | AHDS, SLC16A2
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| SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.
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| Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K.
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| Hum Genome Var. Oct 9;1:14010. doi: 10.1038/hgv.2014.10. eCollection 2014. 2014
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| 2 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56
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| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
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| Fink JK.
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| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
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| 3 | AHDS, MCT8
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| MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
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| Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW.
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| Eur J Hum Genet 16(9):1029-37. Epub 2008 Apr 9.
2008
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| 4 | AHDS,SLC16A2
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| Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.
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| Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ.
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| J Clin Endocrinol Metab 92(6):2378-81. Epub 2007 Mar 13. 2007
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| 5 | AHDS, SLC16A2
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| The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
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| Schwartz CE, Stevenson RE.
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| Best Pract Res Clin Endocrinol Metab 21(2):307-21. Review.
2007
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| 6 | SLC16A2, AHDS
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| Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
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| Maranduba CM, Friesema EC, Kok F, Kester MH, Jansen J, Sertie AL, Passos-Bueno MR, Visser TJ.
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| J Med Genet 43(5):457-60. Epub 2005 Jun 24. 2006
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| 7 | SLC16A2, AHDS
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| Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
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| Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE.
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| Am J Hum Genet 77(1):41-53. Epub 2005 May 11. 2005
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| 8 | SLC13A2, AHDS
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| X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype.
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| Holden KR, Zuniga OF, May MM, Su H, Molinero MR, Rogers RC, Schwartz CE.
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| J Child Neurol 20(10):852-7. 2005
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| 9 | AHDS, CPX, DACH2, MCS, MGC1
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| Characterization of mouse Dach2, a homologue of Drosophila dachshund.
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| Davis RJ, Shen W, Sandler YI, Heanue TA, Mardon G.
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| Mech Dev 102(1-2):169-79. 2001
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| 10 | AHDS, MRX40, VDAC1P, ZNF711
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| Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.
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| Colleaux L, May M, Belougne J, Lepaslier D, Schwartz C, Fontes M.
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| J Med Genet 33(5):353-7. 1996
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| 11 | AHDS
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| Allan-Herndon-Dubley syndrome : linkage analysis in a third family and refinement of the localization in Xq21. (abstr)
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| Schwartz CE, et al.
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| Cytogenet Cell Genet 67 : 351. 1994
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| 12 | AHDS
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| Allan-Herndon-Dudley syndrome : clinical and linkage studies on a second family.
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| Bialer MG, et al.
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| Am J Med Genet 43 : 491-497. 1992
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| 13 | AHDS
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| Allan-Herndon syndrome. II-Linkage to DNA markers in Xq21.
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| Schwartz CE, et al.
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| Am J Hum Genet 47 : 454-458. 1990
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| 14 | AHDS
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| Allan-Herndon syndrome. I-Clinical studies.
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| Stevenson RE, et al.
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| Am J Hum Genet 47 : 446-453. 1990
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