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Academic Journal

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

Subjects: Brain Disorders; Behavioral and Social Science; Pediatric

  • Source: BMC Medical Genomics. 16(1)

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Subjects: Male; 0301 basic medicine; X-linked intellectual disability

  • Source: Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing GroupMolecular PsychiatryMol PsychiatryMol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-

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Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability

Subjects: Male; congenital, hereditary, and neonatal diseases and abnormalities; Adolescent

  • Source: Medicine

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Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Subjects: 0301 basic medicine; Proband; Adult

  • Source: Molecular neurobiology. 57(9)

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Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Subjects: 0301 basic medicine; Epigenomics; Male

  • Source: Clinical Epigenetics, Vol 10, Iss 1, Pp 1-11 (2018)Paediatrics Publications

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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

Subjects: Adult; Male; 0301 basic medicine

  • Source: Human Molecular GeneticsHuman Molecular Genetics, 2018, 27 (4), pp.589-600. ⟨10.1093/hmg/ddx426⟩

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CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability

Subjects: Adult; Male; 0301 basic medicine

  • Source: European Journal of Human Genetics, 26, 552-560European Journal of Human Genetics, 26, 4, pp. 552-560European Journal of Human Genetics, 26(4), 552-560. Nature Publishing Group

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Subjects: 0301 basic medicine; Adult; Male

  • Source: European Journal of Human Genetics, 26, 64-74European Journal of Human Genetics, Vol. 26, no. 1, p. 64-74 (2018)EUROPEAN JOURNAL OF HUMAN GENETICSr-IIS La Fe. Repositorio

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Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in

Subjects: Adult; Epigenomics; Male

  • Source: Clinical Epigenetics

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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

Subjects: Adult; Male; Adolescent

  • Source: Journal of Medical Genetics. 48:840-850

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  • 1-10 of  13 results for ""X-linked intellectual disability""