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Volumn 19, Issue 9, 2011, Pages 959-964

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

(18)  Wentzel, Christian a   Rajcan Separovic, Evica b   Ruivenkamp, Claudia A L c   Chantot Bastaraud, Sandra d   Metay, Corinne e   Andrieux, Joris f   Annerén, Göran a   Gijsbers, Antoinet C J c   Druart, Luc d   Hyon, Capucine g   Portnoi, Marie France d   Stattin, Eva Lena h   Vincent Delorme, Catherine f   Kant, Sarina G c   Steinraths, Michelle i   Marlin, Sandrine d   Giurgea, Irina e   Thuresson, Ann Charlotte a  


Author keywords

10p deletion; developmental delay; dysmorphic features; learning disability; mental retardation; WAC

Indexed keywords

CLONIDINE; GENOMIC DNA; MELATONIN;

EID: 80052036499     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.71     Document Type: Article
Times cited : (25)

References (16)
  • 1
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz P, Lupski JR: Structural variation in the human genome and its role in disease. Annu Rev Med 2010; 61: 437-455.
    • (2010) Annu. Rev. Med. , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 3
    • 79955766886 scopus 로고    scopus 로고
    • The 12q14 microdeletion syndrome: Six new cases confirming the role of HMGA2 in growth
    • e-pub ahead of print 26 January 2011
    • Lynch SA, Foulds N, Thuresson AC et al: The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth. Eur J Hum Genet 2011; e-pub ahead of print 26 January 2011.
    • (2011) Eur. J. Hum. Genet.
    • Lynch, S.A.1    Foulds, N.2    Thuresson, A.C.3
  • 5
    • 37849037682 scopus 로고    scopus 로고
    • Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion
    • Shahdadpuri R, de Vries B, Pfundt R, de Leeuw N, Reardon W: Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion. Am J Med Genet A 2008; 146A: 233-237.
    • (2008) Am. J. Med. Genet. A. , vol.146 A , pp. 233-237
    • Shahdadpuri, R.1    De Vries, B.2    Pfundt, R.3    De Leeuw, N.4    Reardon, W.5
  • 6
    • 4444284632 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification using a completely synthetic probe set
    • Stern RF, Roberts RG, Mann K, Yau SC, Berg J, Ogilvie CM: Multiplex ligationdependent probe amplification using a completely synthetic probe set. Biotechniques 2004; 37: 399-405. (Pubitemid 39180913)
    • (2004) BioTechniques , vol.37 , Issue.3 , pp. 399-405
    • Stern, R.F.1    Roberts, R.G.2    Mann, K.3    Yau, S.C.4    Berg, J.5    Ogilvie, C.M.6
  • 8
    • 0026545968 scopus 로고
    • Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations
    • Dauwerse JG, Jumelet EA, Wessels JW et al: Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations. Blood 1992; 79: 1299-1304.
    • (1992) Blood , vol.79 , pp. 1299-1304
    • Dauwerse, J.G.1    Jumelet, E.A.2    Wessels, J.W.3
  • 10
  • 11
    • 35348849168 scopus 로고    scopus 로고
    • The TGF- pseudoreceptor gene Bambi is dispensable for mouse embryonic development and postnatal survival
    • DOI 10.1002/dvg.20320
    • Chen J, Bush JO, Ovitt CE, Lan Y, Jiang R: The TGF-beta pseudoreceptor gene Bambi is dispensable for mouse embryonic development and postnatal survival. Genesis 2007; 45: 482-486. (Pubitemid 47584206)
    • (2007) Genesis , vol.45 , Issue.8 , pp. 482-486
    • Chen, J.1    Bush, J.O.2    Ovitt, C.E.3    Lan, Y.4    Jiang, R.5
  • 12
    • 75349097160 scopus 로고    scopus 로고
    • BAMBI bone morphogenetic protein and activin membrane-bound inhibitor reveals the involvement of the transforming growth factor-beta family in pain modulation
    • Tramullas M, Lantero A, Diaz A et al: BAMBI (bone morphogenetic protein and activin membrane-bound inhibitor) reveals the involvement of the transforming growth factor-beta family in pain modulation. J Neurosci 2010; 30: 1502-1511.
    • (2010) J. Neurosci. , vol.30 , pp. 1502-1511
    • Tramullas, M.1    Lantero, A.2    Diaz, A.3
  • 13
    • 43149120217 scopus 로고    scopus 로고
    • Augmin: A protein complex required for centrosome-independent microtubule generation within the spindle
    • DOI 10.1083/jcb.200711053
    • Goshima G, Mayer M, Zhang N, Stuurman N, Vale RD: Augmin: a protein complex required for centrosome-independent microtubule generation within the spindle. J Cell Biol 2008; 181: 421-429. (Pubitemid 351645032)
    • (2008) Journal of Cell Biology , vol.181 , Issue.3 , pp. 421-429
    • Goshima, G.1    Mayer, M.2    Zhang, N.3    Stuurman, N.4    Vale, R.D.5
  • 14
    • 64049111434 scopus 로고    scopus 로고
    • Wac: A new Augmin subunit required for chromosome alignment but not for acentrosomal microtubule assembly in female meiosis
    • Meireles AM, Fisher KH, Colombie N, Wakefield JG, Ohkura H: Wac: a new Augmin subunit required for chromosome alignment but not for acentrosomal microtubule assembly in female meiosis. J Cell Biol 2009; 184: 777-784.
    • (2009) J. Cell. Biol. , vol.184 , pp. 777-784
    • Meireles, A.M.1    Fisher, K.H.2    Colombie, N.3    Wakefield, J.G.4    Ohkura, H.5
  • 15
    • 70449720657 scopus 로고    scopus 로고
    • Tubulin-related cortical dysgeneses: Microtubule dysfunction underlying neuronal migration defects
    • Jaglin XH, Chelly J: Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet 2009; 25: 555-566.
    • (2009) Trends Genet. , vol.25 , pp. 555-566
    • Jaglin, X.H.1    Chelly, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.