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Volumn 14, Issue , 2009, Pages 53-60

Overgrowth syndromes: A classification

Author keywords

[No Author keywords available]

Indexed keywords

BANNAYAN RILEY RUVALCABA SYNDROME; BECKWITH WIEDEMANN SYNDROME; CANCER RISK; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER; DISEASE CLASSIFICATION; GENETIC ASSOCIATION; GROWTH DISORDER; MACROSOMIA; MENTAL DEFICIENCY; PALLISTER KILLIAN SYNDROME; PERLMAN SYNDROME; PRIORITY JOURNAL; SIMPSON GOLABI BEHMEL SYNDROME; SOTOS SYNDROME; WEAVER SYNDROME; CLASSIFICATION; GENETICS; HUMAN; PATHOPHYSIOLOGY; REVIEW; SYNDROME;

EID: 65549167299     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000207476     Document Type: Conference Paper
Times cited : (11)

References (20)
  • 3
    • 28044438672 scopus 로고    scopus 로고
    • Advances in overgrowth syndromes: Clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome
    • Cytrynbaum CS, Smith AC, Rubin T, Weksberg R: Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Curr Opin Pediatr 2005;17:740-706.
    • (2005) Curr Opin Pediatr , vol.17 , pp. 740-706
    • Cytrynbaum, C.S.1    Smith, A.C.2    Rubin, T.3    Weksberg, R.4
  • 4
    • 38149091915 scopus 로고    scopus 로고
    • Genetic testing and tumor surveillance for children with cancer predisposition syndromes
    • Rao A, Rothman J, Nichols KE: Genetic testing and tumor surveillance for children with cancer predisposition syndromes. Curr Opin Pediatr 2008;20: 1-7.
    • (2008) Curr Opin Pediatr , vol.20 , pp. 1-7
    • Rao, A.1    Rothman, J.2    Nichols, K.E.3
  • 5
    • 40349093037 scopus 로고    scopus 로고
    • Epigenetics and assisted reproductive technologies: Human imprinting syndromes
    • Lawrence LT, Moley KH: Epigenetics and assisted reproductive technologies: human imprinting syndromes. Semin Reprod Med. 2008;26:143-152.
    • (2008) Semin Reprod Med , vol.26 , pp. 143-152
    • Lawrence, L.T.1    Moley, K.H.2
  • 6
    • 0032475859 scopus 로고    scopus 로고
    • Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
    • Neri G, Gurrieri F, Zanni G, Lin A: Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 1998;79:279-283.
    • (1998) Am J Med Genet , vol.79 , pp. 279-283
    • Neri, G.1    Gurrieri, F.2    Zanni, G.3    Lin, A.4
  • 7
    • 0035715062 scopus 로고    scopus 로고
    • Simpson Golabi Behmel syndrome: Progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition
    • DeBaun MR, Ess J, Saunders S: Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition. Mol Genet Metab 2001; 72:279-286.
    • (2001) Mol Genet Metab , vol.72 , pp. 279-286
    • DeBaun, M.R.1    Ess, J.2    Saunders, S.3
  • 9
    • 0041304765 scopus 로고    scopus 로고
    • Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes
    • Cohen MM Jr: Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. Am J Med Genet [C] 2003;117:49-56.
    • (2003) Am J Med Genet , vol.100 , Issue.117 , pp. 49-56
    • Cohen Jr, M.M.1
  • 10
    • 21644437055 scopus 로고    scopus 로고
    • Molecular basis of Sotos syndrome
    • Niikawa N: Molecular basis of Sotos syndrome. Horm Res 2004;62(suppl 3):60-65.
    • (2004) Horm Res , vol.62 , Issue.SUPPL. 3 , pp. 60-65
    • Niikawa, N.1
  • 12
    • 0032475886 scopus 로고    scopus 로고
    • The syndromes of Sotos and Weaver: Reports and review
    • Opitz JM, Weaver DW, Reynolds JF Jr: The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 1998;79:294-304.
    • (1998) Am J Med Genet , vol.79 , pp. 294-304
    • Opitz, J.M.1    Weaver, D.W.2    Reynolds Jr, J.F.3
  • 15
    • 35548931480 scopus 로고    scopus 로고
    • The phakomatoses: Dermatologic clues to neurologic anomalies
    • Nowak CB: The phakomatoses: dermatologic clues to neurologic anomalies. Semin Pediatr Neurol 2007;14:140-149.
    • (2007) Semin Pediatr Neurol , vol.14 , pp. 140-149
    • Nowak, C.B.1
  • 16
    • 0032853452 scopus 로고    scopus 로고
    • PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
    • Marsh DJ, Kum JB, Lunetta KL, et al: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8:1461-1472.
    • (1999) Hum Mol Genet , vol.8 , pp. 1461-1472
    • Marsh, D.J.1    Kum, J.B.2    Lunetta, K.L.3
  • 17
    • 36349022568 scopus 로고    scopus 로고
    • 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay
    • Cusmano-Ozog K, Manning MA, Hoyme HE: 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. Am J Med Genet [C] 2007;145:393-398.
    • (2007) Am J Med Genet , vol.100 , Issue.145 , pp. 393-398
    • Cusmano-Ozog, K.1    Manning, M.A.2    Hoyme, H.E.3
  • 19
    • 0029967022 scopus 로고    scopus 로고
    • Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization: review of the literature and expansion of the phenotype
    • Bielanska MM, Khalifa MM, Duncan AM: Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization: review of the literature and expansion of the phenotype. Am J Med Genet 1996;65:104-108.
    • (1996) Am J Med Genet , vol.65 , pp. 104-108
    • Bielanska, M.M.1    Khalifa, M.M.2    Duncan, A.M.3
  • 20
    • 0033034175 scopus 로고    scopus 로고
    • Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: A pitfall in prenatal diagnosis
    • Zollino M, Bajer J, Neri G: Chromosome instability limited to the aneuploid clone in the Pallister-Killian syndrome: a pitfall in prenatal diagnosis. Prenat Diagn 1999;19:184-185.
    • (1999) Prenat Diagn , vol.19 , pp. 184-185
    • Zollino, M.1    Bajer, J.2    Neri, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.