Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 193

1.

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
2.

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.

3.

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
4.

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K.

Am J Med Genet A. 2012 Apr;158A(4):861-8. doi: 10.1002/ajmg.a.35235. Review.

PMID:
22407754
5.

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G.

Am J Med Genet A. 2011 Feb;155A(2):424-9. doi: 10.1002/ajmg.a.33821.

PMID:
21271666
6.

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.

7.

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.

8.

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.

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.

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.

11.

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.

12.

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

Vu PY, Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, Taine L.

Am J Med Genet A. 2012 Nov;158A(11):2849-56. doi: 10.1002/ajmg.a.35694.

PMID:
23034868
13.

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD.

Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286.

PMID:
20808231
14.

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, Lewis ME, Rajcan-Separovic E.

Clin Genet. 2005 Apr;67(4):341-51.

PMID:
15733271
15.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE.

J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499.

16.

Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.

Piccione M, Piro E, Serraino F, Cavani S, Ciccone R, Malacarne M, Pierluigi M, Vitaloni M, Zuffardi O, Corsello G.

Eur J Med Genet. 2012 Apr;55(4):238-44. doi: 10.1016/j.ejmg.2012.01.014.

PMID:
22406401
17.

Clinical and molecular characterization of a patient with 15q21.2q22.2 deletion syndrome.

Velázquez-Wong AC, Ruiz Esparza-Garrido R, Velázquez-Flores MÁ, Huicochea-Montiel JC, Cárdenas-Conejo A, Miguez-Muñoz CP, Araujo-Solís MA, Salamanca-Gómez F, Arenas-Aranda DJ.

Cytogenet Genome Res. 2014;144(3):183-9. doi: 10.1159/000370081.

PMID:
25661042
18.

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.

Okamoto N, Fujii T, Tanaka J, Saito K, Matsui T, Harada N.

Am J Med Genet A. 2014 Jan;164A(1):213-9. doi: 10.1002/ajmg.a.36217.

PMID:
24259393
19.

Deletion 2p15-16.1 syndrome: case report and review.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E.

Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Review.

PMID:
21910216
20.

Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.

Papadopoulou E, Sismani C, Christodoulou C, Ioannides M, Kalmanti M, Patsalis P.

Am J Med Genet A. 2010 Jun;152A(6):1515-22. doi: 10.1002/ajmg.a.33302.

PMID:
20503328
Items per page

Supplemental Content

Support Center