231 related articles for article (PubMed ID: 22407754)
1. 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. PubMed ID: 22407754
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 19904302
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 21271666
[TBL] [Abstract][Full Text] [Related]
4. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Noh GJ; Graham JM
Eur J Med Genet; 2012 May; 55(5):354-7. PubMed ID: 22659271
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 23632792
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 23494922
[TBL] [Abstract][Full Text] [Related]
7. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
Hucthagowder V; Liu TC; Paciorkowski AR; Thio LL; Keller MS; Anderson CD; Herman T; Dehner LP; Grange DK; Kulkarni S
Eur J Med Genet; 2012; 55(8-9):485-9. PubMed ID: 22579565
[TBL] [Abstract][Full Text] [Related]
8. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.
Noh GJ; Graham JM
Eur J Med Genet; 2012 Jan; 55(1):59-62. PubMed ID: 22085995
[TBL] [Abstract][Full Text] [Related]
9. Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Chung BH; Mullegama S; Marshall CR; Lionel AC; Weksberg R; Dupuis L; Brick L; Li C; Scherer SW; Aradhya S; Stavropoulos DJ; Elsea SH; Mendoza-Londono R
Eur J Hum Genet; 2012 Apr; 20(4):398-403. PubMed ID: 22085900
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18812405
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 19809484
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 23422940
[TBL] [Abstract][Full Text] [Related]
13. Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.
Tzschach A; Graul-Neumann LM; Konrat K; Richter R; Ebert G; Ullmann R; Neitzel H
Am J Med Genet A; 2009 Feb; 149A(2):242-5. PubMed ID: 19161151
[TBL] [Abstract][Full Text] [Related]
14. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
Imitola J; Khurana DS; Teplyuk NM; Zucker M; Jethva R; Legido A; Krichevsky AM; Frangieh M; Walsh CA; Carvalho KS
Am J Med Genet A; 2015 Nov; 167A(11):2808-16. PubMed ID: 26238961
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 22406401
[TBL] [Abstract][Full Text] [Related]
16. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E
Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190
[TBL] [Abstract][Full Text] [Related]
17. 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; 89(4):551-63. PubMed ID: 21981781
[TBL] [Abstract][Full Text] [Related]
18. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Lévy J; Coussement A; Dupont C; Guimiot F; Baumann C; Viot G; Passemard S; Capri Y; Drunat S; Verloes A; Pipiras E; Benzacken B; Dupont JM; Tabet AC
Am J Med Genet A; 2017 Aug; 173(8):2081-2087. PubMed ID: 28573701
[TBL] [Abstract][Full Text] [Related]
19. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
Svensson AM; Curry CJ; South ST; Whitby H; Maxwell TM; Aston E; Fisher J; Carmack CE; Scheffer A; Abu-Shamsieh A; Brothman AR
Am J Med Genet A; 2007 Jun; 143A(12):1348-53. PubMed ID: 17506097
[TBL] [Abstract][Full Text] [Related]
20. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
Nowakowska BA; Obersztyn E; Szymańska K; Bekiesińska-Figatowska M; Xia Z; Ricks CB; Bocian E; Stockton DW; Szczałuba K; Nawara M; Patel A; Scott DA; Cheung SW; Bohan TP; Stankiewicz P
Am J Med Genet B Neuropsychiatr Genet; 2010 Jul; 153B(5):1042-51. PubMed ID: 20333642
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]