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Volumn 18, Issue 2, 2010, Pages 163-170

Erratum: The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype (European Journal of Human Genetics (2010) 18 (163-170) DOI: 10.1038/ejhg.2009.152);The 2q23.1 microdeletion syndrome: Clinical and behavioural phenotype

(31)  Van Bon, Bregje W M a   Koolen, David A a   Brueton, Louise b   McMullan, Dominic b   Lichtenbelt, Klaske D c   Adès, Lesley C d   Peters, Gregory d   Gibson, Kate e   Novara, Francesca f   Pramparo, Tiziano f   Bernardina, Bernardo Dalla g   Zoccante, Leonardo g   Balottin, Umberto g   Piazza, Fausta g   Pecile, Vanna h   Gasparini, Paolo i   Guerci, Veronica i   Kets, Marleen a   Pfundt, Rolph a   De Brouwer, Arjan P a   more..


Author keywords

2q23.1; Angelman; EPC2; MBD5; Microdeletion; Rett

Indexed keywords

ANTICONVULSIVE AGENT; CHROMOSOME PROTEIN; EPC2 PROTEIN; MELATONIN; METHYL CPG BINDING PROTEIN; METHYL CPG BINDING PROTEIN 5; UNCLASSIFIED DRUG;

EID: 74449084036     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.103     Document Type: Erratum
Times cited : (75)

References (27)
  • 1
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685-1699.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3
  • 3
    • 56049085381 scopus 로고    scopus 로고
    • Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
    • Koolen DA, Sharp AJ, Hurst JA et al: Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008; 45: 710-720.
    • (2008) J Med Genet , vol.45 , pp. 710-720
    • Koolen, D.A.1    Sharp, A.J.2    Hurst, J.A.3
  • 4
    • 38749129175 scopus 로고    scopus 로고
    • 22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome
    • Ben-Shachar S, Ou Z, Shaw CA et al: 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet 2008; 82: 214-221.
    • (2008) Am J Hum Genet , vol.82 , pp. 214-221
    • Ben-Shachar, S.1    Ou, Z.2    Shaw, C.A.3
  • 5
    • 34548339637 scopus 로고    scopus 로고
    • Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    • Ballif BC, Hornor SA, Jenkins E et al: Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 2007; 39: 1071-1073.
    • (2007) Nat Genet , vol.39 , pp. 1071-1073
    • Ballif, B.C.1    Hornor, S.A.2    Jenkins, E.3
  • 6
    • 60849125859 scopus 로고    scopus 로고
    • Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
    • Ballif BC, Theisen A, Coppinger J et al: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 2008; 1: 8.
    • (2008) Mol Cytogenet , vol.1 , pp. 8
    • Ballif, B.C.1    Theisen, A.2    Coppinger, J.3
  • 7
    • 34047114932 scopus 로고    scopus 로고
    • Characterization of a recurrent 15q24 microdeletion syndrome
    • Sharp AJ, Selzer RR, Veltman JA et al: Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007; 16: 567-572.
    • (2007) Hum Mol Genet , vol.16 , pp. 567-572
    • Sharp, A.J.1    Selzer, R.R.2    Veltman, J.A.3
  • 8
    • 34447278070 scopus 로고    scopus 로고
    • Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
    • Ullmann R, Turner G, Kirchhoff M et al: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007; 28: 674-682.
    • (2007) Hum Mutat , vol.28 , pp. 674-682
    • Ullmann, R.1    Turner, G.2    Kirchhoff, M.3
  • 9
    • 33746563985 scopus 로고    scopus 로고
    • Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
    • Kleefstra T, Brunner HG, Amiel J et al: Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 2006; 79: 370-377.
    • (2006) Am J Hum Genet , vol.79 , pp. 370-377
    • Kleefstra, T.1    Brunner, H.G.2    Amiel, J.3
  • 10
    • 0029022770 scopus 로고
    • Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
    • Petrij F, Giles RH, Dauwerse HG et al: Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348-351.
    • (1995) Nature , vol.376 , pp. 348-351
    • Petrij, F.1    Giles, R.H.2    Dauwerse, H.G.3
  • 11
    • 0027417311 scopus 로고
    • Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3
    • Breuning MH, Dauwerse HG, Fugazza G et al: Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet 1993; 52: 249-254.
    • (1993) Am J Hum Genet , vol.52 , pp. 249-254
    • Breuning, M.H.1    Dauwerse, H.G.2    Fugazza, G.3
  • 12
    • 9144240478 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
    • Vissers LE, de Vries BB, Osoegawa K et al: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003; 73: 1261-1270.
    • (2003) Am J Hum Genet , vol.73 , pp. 1261-1270
    • Vissers, L.E.1    De Vries, B.B.2    Osoegawa, K.3
  • 13
    • 2442681603 scopus 로고    scopus 로고
    • A novel microdeletion, del( 2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization
    • Koolen DA, Vissers LE, Nillesen W et al: A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization. Clin Genet 2004; 65: 429-432.
    • (2004) Clin Genet , vol.65 , pp. 429-432
    • Koolen, D.A.1    Vissers, L.E.2    Nillesen, W.3
  • 14
    • 70449351768 scopus 로고    scopus 로고
    • 2q23.1 microdeletion identified by array-CGH:an emerging phenotype with Angelman-like features?
    • (e-pub ahead of print)
    • Jaillard S, Dubourg C, Gérard-Blanluet M et al: 2q23.1 microdeletion identified by array-CGH: an emerging phenotype with Angelman-like features? J Med Genet 2008 (e-pub ahead of print).
    • (2008) J Med Genet
    • Jaillard, S.1    Dubourg, C.2    Gérard-Blanluet, M.3
  • 15
    • 34848904050 scopus 로고    scopus 로고
    • Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation
    • Wagenstaller J, Spranger S, Lorenz-Depiereux B et al: Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet 2007; 81: 768-779.
    • (2007) Am J Hum Genet , vol.81 , pp. 768-779
    • Wagenstaller, J.1    Spranger, S.2    Lorenz-Depiereux, B.3
  • 16
    • 37249022297 scopus 로고    scopus 로고
    • Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements: A study of 59 patients
    • De Gregori M, Ciccone R, Magini P et al: Cryptic deletions are a common finding in 'balanced' reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007; 44: 750-762.
    • (2007) J Med Genet , vol.44 , pp. 750-762
    • De Gregori, M.1    Ciccone, R.2    Magini, P.3
  • 17
    • 25444432040 scopus 로고    scopus 로고
    • Diagnostic genome profiling in mental retardation
    • de Vries BB, Pfundt R, Leisink M et al: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606-616.
    • (2005) Am J Hum Genet , vol.77 , pp. 606-616
    • De Vries, B.B.1    Pfundt, R.2    Leisink, M.3
  • 19
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky H: Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132: 365-386.
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 20
    • 51649103583 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in MYCN-related Feingold syndrome
    • Marcelis CL, Hol FA, Graham GE et al: Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat 2008; 29: 1125-1132.
    • (2008) Hum Mutat , vol.29 , pp. 1125-1132
    • Marcelis, C.L.1    Hol, F.A.2    Graham, G.E.3
  • 21
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak KJ, Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001; 25: 402-408.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 22
    • 0037328861 scopus 로고    scopus 로고
    • Angelman syndrome: A review of the clinical and genetic aspects
    • Clayton-Smith J, Laan L: Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40: 87-95.
    • (2003) J Med Genet , vol.40 , pp. 87-95
    • Clayton-Smith, J.1    Laan, L.2
  • 23
    • 33646125422 scopus 로고    scopus 로고
    • Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)
    • Gropman AL, Duncan WC, Smith AC: Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 2006; 34: 337-350.
    • (2006) Pediatr Neurol , vol.34 , pp. 337-350
    • Gropman, A.L.1    Duncan, W.C.2    Smith, A.C.3
  • 24
    • 9144246375 scopus 로고    scopus 로고
    • Comparative study of methyl-CpG-binding domain proteins
    • Roloff TC, Ropers HH, Nuber UA: Comparative study of methyl-CpG-binding domain proteins. BMC Genomics 2003; 4: 1.
    • (2003) BMC Genomics , vol.4 , pp. 1
    • Roloff, T.C.1    Ropers, H.H.2    Nuber, U.A.3
  • 25
    • 1342346531 scopus 로고    scopus 로고
    • Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans
    • Doyon Y, Selleck W, Lane WS, Tan S, Cote J: Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans. Mol Cell Biol 2004; 24: 1884-1896.
    • (2004) Mol Cell Biol , vol.24 , pp. 1884-1896
    • Doyon, Y.1    Selleck, W.2    Lane, W.S.3    Tan, S.4    Cote, J.5
  • 26
    • 33644787137 scopus 로고    scopus 로고
    • The Epc-N domain: A predicted protein-protein interaction domain found in select chromatin associated proteins
    • Perry J: The Epc-N domain: a predicted protein-protein interaction domain found in select chromatin associated proteins. BMC Genomics 2006; 7: 6.
    • (2006) BMC Genomics , vol.7 , pp. 6
    • Perry, J.1
  • 27
    • 55949105176 scopus 로고    scopus 로고
    • Van BH: Genetic and epigenetic defects in mental retardation
    • Kramer JM, van BH: Genetic and epigenetic defects in mental retardation. Int J Biochem Cell Biol 2009; 41: 96-107.
    • (2009) Int J Biochem Cell Biol , vol.41 , pp. 96-107
    • Kramer, J.M.1


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