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Volumn 167, Issue 6, 2015, Pages 1349-1353

Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features

Author keywords

KIAA2022; Next generation sequencing; Targeted sequencing; X linked intellectual disability

Indexed keywords

CYCLOSPORIN; LIOTHYRONINE; THYROTROPIN; THYROXINE; NERVE PROTEIN; XPN PROTEIN, HUMAN;

EID: 84929954103     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37002     Document Type: Article
Times cited : (26)

References (13)
  • 3
    • 84861816223 scopus 로고    scopus 로고
    • Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth
    • Ishikawa T, Miyata S, Koyama Y, Yoshikawa K, Hattori T, Kumamoto N, Shingaki K, Katayama T, Tohyama M. 2012. Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. Neuroscience 214: 181-191.
    • (2012) Neuroscience , vol.214 , pp. 181-191
    • Ishikawa, T.1    Miyata, S.2    Koyama, Y.3    Yoshikawa, K.4    Hattori, T.5    Kumamoto, N.6    Shingaki, K.7    Katayama, T.8    Tohyama, M.9
  • 4
    • 37849026460 scopus 로고    scopus 로고
    • Integrin beta1-mediated matrix assembly and signaling are critical for the normal development and function of the kidney glomerulus
    • Kanasaki K, Kanda Y, Palmsten K, Tanjore H, Lee SB, Lebleu VS, Gattone VH, Kalluri R. 2008. Integrin beta1-mediated matrix assembly and signaling are critical for the normal development and function of the kidney glomerulus. Dev Biol 313: 584-593.
    • (2008) Dev Biol , vol.313 , pp. 584-593
    • Kanasaki, K.1    Kanda, Y.2    Palmsten, K.3    Tanjore, H.4    Lee, S.B.5    Lebleu, V.S.6    Gattone, V.H.7    Kalluri, R.8
  • 5
    • 0030662293 scopus 로고    scopus 로고
    • Expression of beta 1-integrins on activated mesangial cells in human glomerulonephritis
    • Kuhara T, Kagami S, Kuroda Y. 1997. Expression of beta 1-integrins on activated mesangial cells in human glomerulonephritis. J Am Soc Nephrol 8:1679-1687.
    • (1997) J Am Soc Nephrol , vol.8 , pp. 1679-1687
    • Kuhara, T.1    Kagami, S.2    Kuroda, Y.3
  • 6
    • 0029832537 scopus 로고    scopus 로고
    • Distribution of renal integrin receptors and their ligands in congenital nephrotic syndrome of the Finnish type
    • Ljungberg P, Virtanen I, Holmberg C, Jalanko H. 1996. Distribution of renal integrin receptors and their ligands in congenital nephrotic syndrome of the Finnish type. Virchows Arch 428:333-346.
    • (1996) Virchows Arch , vol.428 , pp. 333-346
    • Ljungberg, P.1    Virtanen, I.2    Holmberg, C.3    Jalanko, H.4
  • 7
    • 84859514257 scopus 로고    scopus 로고
    • Fragile X and X-linked intellectual disability: four decades of discovery
    • Lubs HA, Stevenson RE, Schwartz CE. 2012. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 90:579-590.
    • (2012) Am J Hum Genet , vol.90 , pp. 579-590
    • Lubs, H.A.1    Stevenson, R.E.2    Schwartz, C.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.