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Items: 1 to 20 of 84

1.

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.

Camarena V, Cao L, Abad C, Abrams A, Toledo Y, Araki K, Araki M, Walz K, Young JI.

EMBO Mol Med. 2014 Jul 7;6(8):1003-15. doi: 10.15252/emmm.201404044.

2.
3.

Trapping MBD5 to understand 2q23.1 microdeletion syndrome.

Kwon DY, Zhou Z.

EMBO Mol Med. 2014 Jul 7;6(8):993-4. doi: 10.15252/emmm.201404324. No abstract available.

4.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH.

Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67.

5.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

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.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.

6.

The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice.

Du Y, Liu B, Guo F, Xu G, Ding Y, Liu Y, Sun X, Xu G.

PLoS One. 2012;7(10):e47358. doi: 10.1371/journal.pone.0047358.

7.

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.

Eur J Hum Genet. 2010 Apr;18(4):436-41. doi: 10.1038/ejhg.2009.199.

8.

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Noh GJ, Graham JM Jr.

Eur J Med Genet. 2012 May;55(5):354-7. doi: 10.1016/j.ejmg.2012.05.003.

PMID:
22659271
9.

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Noh GJ, Graham JM Jr.

Eur J Med Genet. 2012 Jan;55(1):59-62. doi: 10.1016/j.ejmg.2011.10.001.

PMID:
22085995
10.

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.

Mullegama SV, Alaimo JT, Chen L, Elsea SH.

Int J Mol Sci. 2015 Apr 7;16(4):7627-43. doi: 10.3390/ijms16047627.

11.

Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression.

Mullegama SV, Elsea SH.

Mol Cytogenet. 2014 Nov 19;7(1):80. doi: 10.1186/s13039-014-0080-9.

12.

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.

Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T.

Am J Med Genet A. 2013 Apr;161A(4):850-5. doi: 10.1002/ajmg.a.35768.

PMID:
23494922
13.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, 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.

Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Erratum in: Eur J Hum Genet. 2010 Oct;18(10):1171. Eur J Hum Genet. 2010 Feb;18(2):170. Moloney, Susan [added].

14.

MBD5 Haploinsufficiency.

Mullegama SV, Mendoza-Londono R, Elsea SH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Oct 27.

15.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P.

Eur J Hum Genet. 2013 Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22.

16.

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH.

Eur J Hum Genet. 2015 Jun;23(6):781-9. doi: 10.1038/ejhg.2014.200.

17.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME.

Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42.

18.

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

Mullegama SV, Elsea SH.

Eur J Hum Genet. 2016 Aug;24(9):1235-43. doi: 10.1038/ejhg.2016.35.

PMID:
27222293
19.

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.

Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y.

BMC Med Genet. 2014 May 29;15:62. doi: 10.1186/1471-2350-15-62.

20.

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

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.

J Med Genet. 2009 Dec;46(12):847-55. doi: 10.1136/jmg.2008.058156.

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