Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.

doi:10.1002/ajmg.b.30803

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Article

Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Mar 2009

Mínguez Mónica, Ibáñez Berta, Ribate Maria-Pilar, Ramos Feliciano, García-Alegría Eva, Fernández-Rivas Aránzazu, Ruiz-Parra Eduardo, Poch Marisa, Alonso Angel, Martinez-Bouzas Cristina, Beristain Elena, Tejada Maria-Isabel

Abstract excerpt

This report describes a study focused on the relationship between CGG repeat length, FMRP, mRNA levels and cognitive functioning in premutation carriers (PM) carriers of Fragile X Syndrome (FXS). We studied 60 females-43 with PM and 17 with normal (N) alleles-from 25 FXS Spanish families. The Wechsler scales were administered to all subjects and new blood samples and hair roots were taken to study mRNA and FMRP...

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PMID: 18563710
DOI: 10.1002/ajmg.b.30803

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FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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