| 1 | DEL2Q23, MRD1
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| Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
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| Mullegama SV, Elsea SH.
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| Eur J Hum Genet. Aug;24(9):1235-43. doi: 10.1038/ejhg.2016.35. Epub 2016 May 25. Erratum in: Eur J Hum Genet. 2016 Aug;24(9):1376. PMID: 2016
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| 2 | DEL2Q23, MBD5
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| Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome
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| Camarena V, Cao L, Abad C, Abrams A, Toledo Y, Araki K, Araki M, Walz K, Young JI.
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| EMBO Mol Med. Aug;6(8):1003-15. doi: 10.15252/emmm.201404044 2014
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| 3 | DEL2Q23, MBD5
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| A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.
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| Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T.
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| Am J Med Genet A 161(4):850-5. doi: 10.1002/ajmg.a.35768. Epub 2013 Mar 12.
2013
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| 4 | DEL2Q23, MBD5
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| Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature.
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| Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K.
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| Am J Med Genet A 158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. 2012
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| 5 | DEL2Q23, MBD5
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| 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.
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| Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G.
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| Am J Med Genet A 155(2):424-9. doi: 10.1002/ajmg.a.33821.PMID: 21271666 2011
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| 6 | DEL2Q23, MBD5
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| Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder.
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| Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.
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| Am J Hum Genet 89(4):551-63.
2011
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| 7 | DEL2Q23, MBD5
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| Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
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| Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.
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| Eur J Hum Genet 18(4):436-41. Epub 2009 Nov 11.PMID: 19904302 2010
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| 8 | DEL2q23, EPC2, MBD5
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| The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
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| van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB.
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| Eur J Hum Genet 18(2):163-70. Epub 2009 Oct 7.PMID: 19809484 2010
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| 9 | DEL1P36, DEL2Q23, DEL2Q37, SMS
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| Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
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| Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.
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| J Med Genet 47(4):223-9. Epub 2009 Sep 14.PMID: 19752160 2010
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| 10 | DEL2Q23, MBD5
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| 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
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| Jaillard S, Dubourg C, Gérard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E.
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| J Med Genet 46(12):847-55. Epub 2008 Sep 23. 2009
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