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Clinical Genetics
Volumn 88, Issue 3, 2015, Pages 297-299
A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism
Author keywords

[No Author keywords available]
Indexed keywords

AUTISM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; KIAA2022 GENE; LETTER; POLISH CITIZEN; PRIORITY JOURNAL; X CHROMOSOME; X LINKED INTELLECTUAL DISABILITY; AUTISTIC DISORDER; FEMALE; GENETICS; INTELLECTUAL DISABILITY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; X CHROMOSOMAL INHERITANCE;
EID: 84938848166     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12528     Document Type: Letter
Times cited : (23)
References (6)
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    • Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 2012: 90 (4): 579-590.
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    • Lubs, H.A.1    Stevenson, R.E.2    Schwartz, C.E.3
  • 2
    • 84881618216 scopus 로고    scopus 로고
    • XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
    • Piton A, Redin C, Mandel JL. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013: 93 (2): 368-383.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 368-383
    • Piton, A.1    Redin, C.2    Mandel, J.L.3
  • 3
    • 84881227964 scopus 로고    scopus 로고
    • Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
    • Van Maldergem L, Hou Q, Kalscheuer VM et al. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Hum Mol Genet 2013: 22 (16): 3306-3314.
    • (2013) Hum Mol Genet , vol.22 , Issue.16 , pp. 3306-3314
    • Van Maldergem, L.1    Hou, Q.2    Kalscheuer, V.M.3
  • 4
    • 84872722295 scopus 로고    scopus 로고
    • Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
    • Lim ET, Raychaudhuri S, Sanders SJ et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013: 77 (2): 235-242.
    • (2013) Neuron , vol.77 , Issue.2 , pp. 235-242
    • Lim, E.T.1    Raychaudhuri, S.2    Sanders, S.J.3
  • 5
    • 84890792446 scopus 로고    scopus 로고
    • Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection
    • Athanasakis E, Licastro D, Faletra F et al. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014: 164A: 170-176.
    • (2014) Am J Med Genet A , vol.164A , pp. 170-176
    • Athanasakis, E.1    Licastro, D.2    Faletra, F.3
  • 6
    • 63149198301 scopus 로고    scopus 로고
    • Copy number variants, diseases and gene expression
    • Henrichsen CN, Chaignat E, Reymond A. Copy number variants, diseases and gene expression. Hum Mol Genet 2009: 18 (R1): R1-R8.
    • (2009) Hum Mol Genet , vol.18 , Issue.R1 , pp. R1-R8
    • Henrichsen, C.N.1    Chaignat, E.2    Reymond, A.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.