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Gene symbol: MECP2. Disease: Rett syndrome (atypical).
Penagarikano O, Martinez-Bouzas C, Mínguez M, Sanz-Parra A, García-Alegría E, Beristain E, Tejada MI. Penagarikano O, et al. Hum Genet. 2005 Dec;118(3-4):547. Hum Genet. 2005. PMID: 16521306 No abstract available.
Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.
Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI. Mínguez M, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70. doi: 10.1002/ajmg.b.30803. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18563710
CHEK2 1100delC is present in familial breast cancer cases of the Basque Country.
Martínez-Bouzas C, Beristain E, Guerra I, Gorostiaga J, Mendizabal JL, De-Pablo JL, García-Alegría E, Sanz-Parra A, Tejada MI. Martínez-Bouzas C, et al. Breast Cancer Res Treat. 2007 May;103(1):111-3. doi: 10.1007/s10549-006-9351-4. Epub 2006 Oct 25. Breast Cancer Res Treat. 2007. PMID: 17063278 No abstract available.
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A, Fernandez-L A, García-Alegria E, Albiñana V, Garrido-Martin EM, Blanco FJ, Zarrabeitia R, Perez-Molino A, Bernabeu-Herrero ME, Ojeda ML, Fernandez-Luna JL, Bernabeu C, Botella LM. Fontalba A, et al. BMC Med Genet. 2008 Aug 1;9:75. doi: 10.1186/1471-2350-9-75. BMC Med Genet. 2008. PMID: 18673552 Free PMC article.
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