Results 61 to 70 of about 45,899 (203)
Psicologia: Reflexão e Crítica, 2008 The Fragile X Syndrome is the major inherited intellectual disability, superseded only by Down Syndrome, and it is transmitted mostly by females. Patients with Fragile X Syndrome show a set of physical, clinical, behavioral and cognitive features that ...
Zuleika Ana Cherubini +2 more
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Avaliação de pré-mutação por PCR na síndrome do X frágil [PDF]
, 2006 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química.A presente dissertação avalia o desempenho de uma nova metodologia de análise molecular pela reação em cadeia da ...
Queiroz, Mariana Arzua de
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The Epigenetics of Fragile X Syndrome [PDF]
Cell Stem Cell, 2007 In this issue of Cell Stem Cell, Eiges et al. (2007) generate a human ES cell line from an embryo identified by preimplantation genetic diagnosis, and shed light on the molecular pathology of fragile X syndrome. The discovery that, upon differentiation, epigenetic modifications likely trigger silencing of the FMR1 gene sets the stage for further ...
openaire +2 more sources
A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome
Case Reports in Genetics, 2013 Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle,
Tovi Anderson +3 more
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Progress toward therapeutic potential for AFQ056 in Fragile X syndrome
, 2013 Mary Sourial, Connie Cheng, Laurie C Doering Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading ...
Cheng C, Sourial M, Doering LC
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Fragile X (Martin Bell) Syndrome
, 2002 Fragile X syndrome is a neurodevelopmental disorder that results from a single gene mutation on the X chromosome. It is the most common genetic cause of learning disability, though many patients remain unrecognized.
Crispian Scully
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A Case Report of Fragile X Syndrome with Fingers Anomaly
پزشکی بالینی ابن سینا, 2003 Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3.
Farah Ashrafzadeh +2 more
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Cerebellar Vermis Hypoplasia in Fragile X Syndrome
Pediatric Neurology Briefs, 1998 Investigators at the Kennedy Krieger Institute, Johns Hopkins University School of Medicine, have compared posterior vermis size (cross-sectional area) measured by MRI in 32 males with fragile X syndrome (fra X), 28 males with other causes of cognitive ...
J Gordon Millichap
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Estudo clínico, citogenético e molecular da síndrome do X frágil. [PDF]
, 1999 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Lora, Fabiana Ligia
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Síndrome frágil X Fragile X Syndrome
Revista Cubana de Investigaciones Biomédicas, 2007 Se efectuó una revisión sobre el síndrome frágil X, del cual en Cuba no existían reportes desde el punto de vista poblacional, hasta la realización del estudio psicopedagógico, social y clínico genético de las personas con retraso mental; mediante el ...
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