Literature DB >> 15150789

Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction.

Todd S Zorick, Suzana Kleimann, A Sertié, Mayana Zatz, Sérgio Rosenberg, Maria Rita Passos-Bueno.   

Abstract

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Year:  2004        PMID： 15150789     DOI： 10.1002/ajmg.a.30009

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Authors:  Charles E Schwartz; Melanie M May; Nancy J Carpenter; R Curtis Rogers; Judith Martin; Martin G Bialer; Jewell Ward; Javier Sanabria; Silvana Marsa; James A Lewis; Roberto Echeverri; Herbert A Lubs; Kytja Voeller; Richard J Simensen; Roger E Stevenson
Journal:  Am J Hum Genet       Date:  2005-05-11       Impact factor: 11.025

2.  In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency.

Authors:  Simone Kersseboom; Sigrun Horn; W Edward Visser; Jiesi Chen; Edith C H Friesema; Catherine Vaurs-Barrière; Robin P Peeters; Heike Heuer; Theo J Visser
Journal:  Mol Endocrinol       Date:  2014-12

3.  Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.

Authors:  C M C Maranduba; E C H Friesema; F Kok; M H A Kester; J Jansen; A L Sertié; M R Passos-Bueno; T J Visser
Journal:  J Med Genet       Date:  2005-06-24       Impact factor: 6.318

Review 4.  The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.

Authors:  Charles E Schwartz; Roger E Stevenson
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2007-06       Impact factor: 4.690
  4 in total

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