메뉴 건너뛰기




Volumn 155, Issue 1, 2011, Pages 33-37

The incidence of thrombocytopenia in children with Cornelia de Lange syndrome

Author keywords

Cornelia de Lange; Immune thrombocytopenia; ITP; Thrombocytopenia

Indexed keywords

IMMUNOGLOBULIN G; NIPPED B LIKE PROTEIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

EID: 78650653556     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33631     Document Type: Article
Times cited : (13)

References (31)
  • 2
    • 33846599680 scopus 로고    scopus 로고
    • Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes
    • Dorsett D. 2007. Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes. Chromosoma 116: 1-13.
    • (2007) Chromosoma , vol.116 , pp. 1-13
    • Dorsett, D.1
  • 3
    • 34648819037 scopus 로고    scopus 로고
    • The epidemiology of immune thrombocytopenic purpura
    • Fogarty PF, Segal JB. 2007. The epidemiology of immune thrombocytopenic purpura. Curr Opin Hematol 14: 515-519.
    • (2007) Curr Opin Hematol , vol.14 , pp. 515-519
    • Fogarty, P.F.1    Segal, J.B.2
  • 4
    • 0027248867 scopus 로고
    • Thrombocytopenia in the Brachmann-de Lange syndrome
    • Froster UG, Gortner L. 1993. Thrombocytopenia in the Brachmann-de Lange syndrome. Am J Med Genet 46: 730-731.
    • (1993) Am J Med Genet , vol.46 , pp. 730-731
    • Froster, U.G.1    Gortner, L.2
  • 5
    • 0027952826 scopus 로고
    • Thrombocytopenia in the Brachmann-de Lange syndrome
    • Fryns JP, Vinken L. 1994. Thrombocytopenia in the Brachmann-de Lange syndrome. Am J Med Genet 49: 360.
    • (1994) Am J Med Genet , vol.49 , pp. 360
    • Fryns, J.P.1    Vinken, L.2
  • 6
    • 0842330260 scopus 로고    scopus 로고
    • Inherited thrombocytopenias: Toward a molecular understanding of disorders of platelet production
    • Geddis AE, Kaushansky K. 2004. Inherited thrombocytopenias: Toward a molecular understanding of disorders of platelet production. Curr Opin Pediatr 16: 15-22.
    • (2004) Curr Opin Pediatr , vol.16 , pp. 15-22
    • Geddis, A.E.1    Kaushansky, K.2
  • 9
    • 0031038008 scopus 로고    scopus 로고
    • Prevalence and treatment of chronic idiopathic thrombocytopenic purpura of childhood in Sweden
    • Hedman A, Henter JI, Hedlund I, Elinder G. 1997. Prevalence and treatment of chronic idiopathic thrombocytopenic purpura of childhood in Sweden. Acta Paediatr 86: 226-227.
    • (1997) Acta Paediatr , vol.86 , pp. 226-227
    • Hedman, A.1    Henter, J.I.2    Hedlund, I.3    Elinder, G.4
  • 10
    • 0036500555 scopus 로고    scopus 로고
    • Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage
    • Kim ST, Xu B, Kastan MB. 2002. Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage. Genes Dev 16: 560-570.
    • (2002) Genes Dev , vol.16 , pp. 560-570
    • Kim, S.T.1    Xu, B.2    Kastan, M.B.3
  • 13
    • 34249884225 scopus 로고    scopus 로고
    • Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality
    • Kranz C, Basinger AA, Gucsavas-Calikoglu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH. 2007. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet Part A 143A: 1371-1378.
    • (2007) Am J Med Genet Part A , vol.143 A , pp. 1371-1378
    • Kranz, C.1    Basinger, A.A.2    Gucsavas-Calikoglu, M.3    Sun, L.4    Powell, C.M.5    Henderson, F.W.6    Aylsworth, A.S.7    Freeze, H.H.8
  • 14
  • 15
    • 0041832225 scopus 로고    scopus 로고
    • Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome
    • Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. 2003. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr 143: 277-278.
    • (2003) J Pediatr , vol.143 , pp. 277-278
    • Lawrence, S.1    McDonald-McGinn, D.M.2    Zackai, E.3    Sullivan, K.E.4
  • 18
    • 0036464649 scopus 로고    scopus 로고
    • Different ploidy levels of megakaryocytes generated from peripheral or cord blood CD34+ cells are correlated with different levels of platelet release
    • Mattia G, Vulcano F, Milazzo L, Barca A, Macioce G, Giampaolo A, Hassan HJ. 2002. Different ploidy levels of megakaryocytes generated from peripheral or cord blood CD34+ cells are correlated with different levels of platelet release. Blood 99: 888-897.
    • (2002) Blood , vol.99 , pp. 888-897
    • Mattia, G.1    Vulcano, F.2    Milazzo, L.3    Barca, A.4    Macioce, G.5    Giampaolo, A.6    Hassan, H.J.7
  • 19
    • 55949133987 scopus 로고    scopus 로고
    • Cohesinopathies: One ring, many obligations
    • McNairn AJ, Gerton JL. 2008. Cohesinopathies: One ring, many obligations. Mutat Res 647: 103-111.
    • (2008) Mutat Res , vol.647 , pp. 103-111
    • McNairn, A.J.1    Gerton, J.L.2
  • 21
    • 77949473827 scopus 로고    scopus 로고
    • Primary immunodeficiencies (PIDs) presenting with cytopenias
    • Notarangelo LD. 2009. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematology Am Soc Hematol Educ Program 139-143.
    • (2009) Hematology Am Soc Hematol Educ Program , pp. 139-143
    • Notarangelo, L.D.1
  • 22
    • 0017141918 scopus 로고
    • Stimulation of megakaryocytopoiesis by acute thrombocytopenia in rats
    • Odell TT, Murphy JR, Jackson CW. 1976. Stimulation of megakaryocytopoiesis by acute thrombocytopenia in rats. Blood 48: 765-775.
    • (1976) Blood , vol.48 , pp. 765-775
    • Odell, T.T.1    Murphy, J.R.2    Jackson, C.W.3
  • 23
    • 0021970795 scopus 로고
    • The Brachmann-de Lange syndrome
    • Opitz JM. 1985. The Brachmann-de Lange syndrome. Am J Med Genet 22: 89-102.
    • (1985) Am J Med Genet , vol.22 , pp. 89-102
    • Opitz, J.M.1
  • 24
    • 12944252967 scopus 로고    scopus 로고
    • A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation
    • Sahoo T, Naeem R, Pham K, Chheng S, Noblin ST, Bacino CA, Gambello MJ. 2005. A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation. Am J Med Genet Part A 133A: 93-98.
    • (2005) Am J Med Genet Part A , vol.133 A , pp. 93-98
    • Sahoo, T.1    Naeem, R.2    Pham, K.3    Chheng, S.4    Noblin, S.T.5    Bacino, C.A.6    Gambello, M.J.7
  • 25
    • 33745906255 scopus 로고    scopus 로고
    • Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: Review of genetics and epidemiology
    • Shaw-Smith C. 2006. Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: Review of genetics and epidemiology. J Med Genet 43: 545-554.
    • (2006) J Med Genet , vol.43 , pp. 545-554
    • Shaw-Smith, C.1
  • 26
    • 58249142101 scopus 로고    scopus 로고
    • New insights into the mechanisms of nonimmune thrombocytopenia in neonates
    • Sola-Visner M, Sallmon H, Brown R. 2009. New insights into the mechanisms of nonimmune thrombocytopenia in neonates. Semin Perinatol 33: 43-51.
    • (2009) Semin Perinatol , vol.33 , pp. 43-51
    • Sola-Visner, M.1    Sallmon, H.2    Brown, R.3
  • 27
    • 0034936465 scopus 로고    scopus 로고
    • Congenital thrombocytopenia and radio-ulnar synostosis: A new familial syndrome
    • Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. 2001. Congenital thrombocytopenia and radio-ulnar synostosis: A new familial syndrome. Br J Haematol 113: 866-870.
    • (2001) Br J Haematol , vol.113 , pp. 866-870
    • Thompson, A.A.1    Woodruff, K.2    Feig, S.A.3    Nguyen, L.T.4    Schanen, N.C.5
  • 29
    • 69849103550 scopus 로고    scopus 로고
    • The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells
    • Watrin E, Peters JM. 2009. The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells. EMBO J 28: 2625-2635.
    • (2009) EMBO J , vol.28 , pp. 2625-2635
    • Watrin, E.1    Peters, J.M.2
  • 31
    • 0036500690 scopus 로고    scopus 로고
    • SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint
    • Yazdi PT, Wang Y, Zhao S, Patel N, Lee EY, Qin J. 2002. SMC1 is a downstream effector in the ATM/NBS1 branch of the human S-phase checkpoint. Genes Dev 16: 571-582.
    • (2002) Genes Dev , vol.16 , pp. 571-582
    • Yazdi, P.T.1    Wang, Y.2    Zhao, S.3    Patel, N.4    Lee, E.Y.5    Qin, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.