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FRAXEFragile Site, Folic Acid Type, Rare, Fra (X)
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References in periodicals archive ?
The presence of FRAXE mutations and the distribution of FMR-1 and FMR-2 repeat sizes in the ID cohort negative for FXS were also determined as part of the present study.
An expansion of >200 GCC repeats in the FMR-2 gene at Xq28 has been shown to cause FRAXE syndrome (OMIM #309548), a rare condition associated with a mild form of ID.
Exon 1 AD Huntington tipo 2 Distrofia muscular NO Codifica AR oculofaringea AD Epilepsia mioclonica NO 3'NC AR progresiva Ataxia espinocerebelar SI Intron 9 AD 10 Gen Proteina Influencia del sexo padres Sindrome X fragil A FMR1 FMRP Materna (FRAXA) Sindrome X fragil E FMR2 Proteina FMR2 ND (FRAXE) Distrofia miotonica DMPK Miotonina Materna Distrofia miotonica ZNF9 Proteina dedos Tipo 2 de cinc 9 Ataxia de Friedriech X25 Frataxina Materna Ataxia espinocerebelar SCA8 ARN Materna Tipo 8 antisentido Enfermedad similar a JPH3 Juntofilina 3 ND Huntington tipo 2 Distrofia muscular PABP2 Proteina 2 que ND oculofaringea enlaza a poliadeninas Epilepsia mioclonica CSTB Cistatina B Paterna progresiva (EPMI) Ataxia espinocerebelar SCA 10 Ataxina 10 ?
Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE. American Journal of Medical Genetics (Neuropsychiatric Genetics), 74, 73-81.
FRAXE expansion is not a common etiological factor among developmentally delayed males.
But, the environmental rationality is present in everyday life, and the production system in agroecosystems do not obey the rationality of the market but the environmental, the seasonality of water basin life, cultural production and reproduction in space and time (Noda, 2007; Fraxe et al, 2007).
Marilia Gabriela Gondim Rezende *, Geise de Goes Canalez and Therezinha de Jesus Pinto Fraxe
Com efeito, a riqueza natural do contexto em que vivem as comunidades ribeirinhas da Amazonia se opoe as inumeras dificuldades existentes, como falta de saneamento basico, de energia eletrica, agua potavel, alem de restricoes de saude, educacao, dentre outros (Fraxe, Witkoski, & Miguez, 2009; Scherer, 2004; Silva, 2006).
Furthermore, we studied these children for FRAXE mental retardation and were negative as well.
O excedente vendido nos mercados locais visa o sustento da familia e nao o acumulo de um capital (Miguez, Fraxe & Witkoski, 2007).
A reproducao dos modos de vida dessa populacao e assegurada por meio da historia oral (Fraxe, 2000).