Síndrome frágil X Fragile X Syndrome

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Síndrome frágil X Fragile X syndrome by Miguel Lugones Botell, Emilia Miyar Pieiga, Marieta Ramírez Bermúdez, Ana M. Martínez La Fuente

Subjects: “…Síndrome frágil X…”
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Síndrome frágil X by Jesús Pérez Ramas

“…<p>Se realiza una revisión actualizada sobre las peculiaridades clínicas fenotípicas, citogenéticas, diagnosticas y de pesquisaje del Síndrome frágil X o de Martín Bell, una de las enfermedades monogénicas mas frecuentes en el ser humano y causa más común de retraso mental ligado al cromosoma X caracterizándose clínicamente por retraso mental, macroorquidea, orejas grandes, prognatismo y lenguaje “sui géneris”. …”
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Síndrome frágil X by Jesús Pérez Ramas

“…<p>Se realiza una revisión actualizada sobre las peculiaridades clínicas fenotípicas, citogenéticas, diagnosticas y de pesquisaje del Síndrome frágil X o de Martín Bell, una de las enfermedades monogénicas mas frecuentes en el ser humano y causa más común de retraso mental ligado al cromosoma X caracterizándose clínicamente por retraso mental, macroorquidea, orejas grandes, prognatismo y lenguaje “sui géneris”. …”
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Síndrome frágil X by Jesús Pérez Ramas

“…<p>Se realiza una revisión actualizada sobre las peculiaridades clínicas fenotípicas, citogenéticas, diagnosticas y de pesquisaje del Síndrome frágil X o de Martín Bell, una de las enfermedades monogénicas mas frecuentes en el ser humano y causa más común de retraso mental ligado al cromosoma X caracterizándose clínicamente por retraso mental, macroorquidea, orejas grandes, prognatismo y lenguaje “sui géneris”. …”
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The fragile X syndrome. by Hirst, M, Knight, S, Bell, M, Super, M, Davies, K

“…An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through the methylation of the FMR-1 HTF island and the region of cytogenetic fragility. …”

The fragile X syndrome. by Flannery, A, Hirst, M, Knight, S, Ritchie, R, Davies, K

Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers by Ramkumar Aishworiya, Dragana Protic, Si Jie Tang, Andrea Schneider, Flora Tassone, Randi Hagerman

Subjects: “…Fragile X premutation…”
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Astrocytes in fragile X syndrome by Karo Talvio, Maija L. Castrén

Subjects: “…fragile X syndrome…”
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Screening for fragile X syndrome. by Murray, Cuckle, Taylor, Hewison

“…In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. …”
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Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved] by Akash Rajaratnam, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, Randi Hagerman

“…Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. …”
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Fragile X syndrome: Current insight by Deepika Delsa Dean, Srinivasn Muthuswamy, Sarita Agarwal

Subjects: “…Fragile X syndrome (FXS)…”
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Impact of Fragile X Syndrome on Their Families by Concha Iriarte-Redín, Manuel Soriano-Ferrer, Beatriz Hidalgo-Alés

Subjects: “…fragile x syndrome…”
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Cardiovascular Problems in the Fragile X Premutation by Nattaporn Tassanakijpanich, Nattaporn Tassanakijpanich, Jonathan Cohen, Rashelle Cohen, Uma N. Srivatsa, Randi J. Hagerman, Randi J. Hagerman

Subjects: “…fragile X…”
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Developmental studies in fragile X syndrome by Khaleel A. Razak, Kelli C. Dominick, Craig A. Erickson

“…Abstract Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. …”
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Chloride imbalance in Fragile X syndrome by Kaleb Dee Miles, Caleb Andrew Doll

Subjects: “…fragile X syndrome…”
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The molecular basis of the Fragile X syndrome by Harem Othman smail

“…Fragile X syndrome is an X-linked mutation inheritance disorder. …”
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An “Omic” Overview of Fragile X Syndrome by Olivier Dionne, François Corbin

Subjects: “…fragile X syndrome…”
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Fragile X Syndrome and Targeted Treatments by Nattaporn Tassanakijpanich, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, Randi Jenssen Hagerman

Subjects: “…fragile x syndrome, fmr1, targeted treatment…”
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Modeling Fragile X Syndrome in Drosophila by Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla

Subjects: “…Fragile X Syndrome…”
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