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Academic Journal

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Subjects: Humans; Male; Female

  • Source: American journal of human genetics, vol. 110, no. 2, pp. 215-227

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Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Subjects: Exome sequencing; China; Pediatrics

  • Source: BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)BMC Pediatrics

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X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

Subjects: 0301 basic medicine; Genetics; L1

  • Source: neurogenetics. 22:43-51

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A missense mutation in the catalytic domain of O ‐GlcNAc transferase links perturbations in protein O ‐GlcNAcylation to X‐linked intellectual disability

Subjects: Models, Molecular; Glycosylation; X-linked intellectual disability

  • Source: Febs Letters'FEBS Letters ', vol: 594, pages: 717-727 (2020)

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A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

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

  • Source: BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)BMC Neurology

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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

Subjects: Male; Embryology; Embryo, Nonmammalian

  • Source: PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)PLoS ONEPLoS ONE, Public Library of Science, 2021, 16 (8), pp.e0256181. ⟨10.1371/journal.pone.0256181⟩Bengani, H, Grozeva, D, Moyon, L,

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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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A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

Subjects: Male; Microcephaly; X-linked intellectual disability

  • Source: Cold Spring Harbor Molecular Case Studies

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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Subjects: 0301 basic medicine; Male; Pervasive Developmental Disorders

  • Source: PLoS ONEPLoS ONE, Vol 12, Iss 4, p e0175962 (2017)

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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

Subjects: Male; Proband; Time Factors

  • Source: The American Journal of Human Genetics. 94:470-478

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  • 1-10 of  16 results for ""X-linked intellectual disability""