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A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
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Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
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Patient with a novel purine-rich element binding protein A mutation.
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Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.
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Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia.
Leukemia. 2001 Jun;15(6):954-62. doi: 10.1038/sj.leu.2402108.
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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.
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Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
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PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions.
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CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia.
BMC Med Genomics. 2025 Aug 20;18(1):133. doi: 10.1186/s12920-025-02201-9.
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Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.
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PURA syndrome-a genetic cause of a neurodevelopmental disorder-case report.
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A Colombian Boy with a Novel de novo Variant: A Case Report.
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Triple mosaic variants of PURA in a patient with multiple congenital anomalies.
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NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia.
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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.
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Inherited Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
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PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.
Elife. 2024 Apr 24;13:RP93561. doi: 10.7554/eLife.93561.
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Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
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5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
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Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
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Drosophila Pur-α binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte.
RNA Biol. 2012 May;9(5):633-43. doi: 10.4161/rna.19760. Epub 2012 May 1.
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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.
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Lack of Pur-alpha alters postnatal brain development and causes megalencephaly.
Hum Mol Genet. 2012 Feb 1;21(3):473-84. doi: 10.1093/hmg/ddr476. Epub 2011 Oct 18.
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Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8.
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A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.
Am J Med Genet A. 2011 Apr;155A(4):732-6. doi: 10.1002/ajmg.a.33891. Epub 2011 Mar 15.
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X-ray structure of Pur-alpha reveals a Whirly-like fold and an unusual nucleic-acid binding surface.
Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18521-6. doi: 10.1073/pnas.0907990106. Epub 2009 Oct 21.
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Multiple roles for Puralpha in cellular and viral regulation.
Cell Cycle. 2009 Feb 1;8(3):1-7. doi: 10.4161/cc.8.3.7585. Epub 2009 Feb 10.
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