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Academic Journal

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain.

  • Authors : Fernández RM; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, 41013 Seville, Spain ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 41013 Seville, Spain.

Subjects: Genetic Testing* ; Preimplantation Diagnosis*; Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*diagnosis

  • Source: BioMed research international [Biomed Res Int] 2015; Vol. 2015, pp. 965839. Date of Electronic Publication: 2015 Dec 02.Publisher: Hindawi Pub. Co Country of Publication: United States NLM ID: 101600173 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A combination of ascorbic acid and α-tocopherol to test the effectiveness and safety in the fragile X syndrome: study protocol for a phase II, randomized, placebo-controlled trial.

  • Authors : de Diego-Otero Y; Unidad de Gestión Clínica de Salud Mental, Hospital Regional Universitario de Málaga, Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Civil, Pabellón 2 bajo, Plaza del Hospital Civil S/N, 29009 Málaga, Spain. .; Calvo-Medina R

Subjects: Research Design*; Antioxidants/Antioxidants/Antioxidants/*therapeutic use ; Ascorbic Acid/Ascorbic Acid/Ascorbic Acid/*therapeutic use

  • Source: Trials [Trials] 2014 Sep 03; Vol. 15, pp. 345. Date of Electronic Publication: 2014 Sep 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101263253 Publication Model: Electronic Cited Medium: Internet ISSN: 1745-6215

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Academic Journal

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.

  • Authors : Tejada MI; Laboratorio de Genética Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Barakaldo, 48903 Bizkaia, Spain.; Glover G

Subjects: Alleles* ; Gene Frequency* ; Genetic Testing*

  • Source: BioMed research international [Biomed Res Int] 2014; Vol. 2014, pp. 195793. Date of Electronic Publication: 2014 May 28.Publisher: Hindawi Pub. Co Country of Publication: United States NLM ID: 101600173 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.

  • Authors : Fernandez-Carvajal I; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA 95616, USA.; Walichiewicz P

Subjects: Alleles* ; Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/blood ; Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/Fragile X Mental Retardation Protein*/genetics

  • Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2009 Jul; Vol. 11 (4), pp. 324-9. Date of Electronic Publication: 2009 May 21.Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles.

  • Authors : Arrieta I; Department of Genetics, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain.; Télez M

Subjects: Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*genetics; Alleles ; Chi-Square Distribution

  • Source: Human biology [Hum Biol] 2008 Dec; Vol. 80 (6), pp. 593-600.Publisher: Wayne State University Press Country of Publication: United States NLM ID: 0116717 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

Subjects: Ataxia*/Ataxia*/Ataxia*/diagnosis ; Ataxia*/Ataxia*/Ataxia*/genetics ; Ataxia*/Ataxia*/Ataxia*/pathology

  • Source: Molecular neurobiology [Mol Neurobiol] 2007 Jun; Vol. 35 (3), pp. 324-8.Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print Cited Medium: Print ISSN: 0893-7648

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Academic Journal

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

  • Authors : Madrigal I; CIBER de Enfermedades Raras and Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain.; Xunclà M

Subjects: Trinucleotide Repeat Expansion*; Attention Deficit Disorder with Hyperactivity/Attention Deficit Disorder with Hyperactivity/Attention Deficit Disorder with Hyperactivity/*genetics ; Autistic Disorder/Autistic Disorder/Autistic Disorder/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Aug; Vol. 19 (8), pp. 921-3. Date of Electronic Publication: 2011 Mar 23.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Incidence of fragile X in 5,000 consecutive newborn males.

  • Authors : Rifé M; Servei de Genètica. Centre de Diagnòstic Biòmedic, Hospital Clínic and IDIBAPS (Institut d'Investigacions Biomèdiques Agustí Pi I Sunyer), Barcelona, Spain.; Badenas C

Subjects: Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*epidemiology ; Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*genetics; Fragile X Mental Retardation Protein

  • Source: Genetic testing [Genet Test] 2003 Winter; Vol. 7 (4), pp. 339-43.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium: Print ISSN:

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Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain.

Subjects: Genetic Testing* ; Mutation* ; RNA-Binding Proteins*

  • Source: Clinical genetics [Clin Genet] 1999 Jul; Vol. 56 (1), pp. 98-9.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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Academic Journal

A survey of fragile X syndrome in a sample from Spanish Basque country.

  • Authors : Arrieta I; Departmento de Biologia Animal y Genética, Facultad de Ciencias, Universidad del Pais Vasco, bilbao, Spain.; Criado B

Subjects: Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*epidemiology ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*epidemiology; Adolescent

  • Source: Annales de genetique [Ann Genet] 1999; Vol. 42 (4), pp. 197-201.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0370562 Publication Model: Print Cited Medium: Print ISSN: 0003-3995 (Print)

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  • 1-10 of  74 results for ""FRAGILE X syndrome""