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Items: 1 to 20 of 347

1.

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.

BMC Med Genet. 2012 Aug 21;13:75. doi: 10.1186/1471-2350-13-75.

2.

Analysis of MECP2 gene copy number in boys with autism.

Xi CY, Lu Y, Tan YH, Hua TY, Zhao YJ, Liu XM, Gao H.

J Child Neurol. 2011 May;26(5):570-3. doi: 10.1177/0883073810387138.

PMID:
21531908
3.

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.

Pediatrics. 2006 Dec;118(6):e1687-95. Epub 2006 Nov 6.

PMID:
17088400
4.

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR.

Autism Res. 2012 Dec;5(6):385-97. doi: 10.1002/aur.1251. Epub 2012 Oct 10.

5.

Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.

Eur J Med Genet. 2016 Jun;59(6-7):347-53. doi: 10.1016/j.ejmg.2016.05.004. Epub 2016 May 11.

PMID:
27180140
6.

MECP2 duplication syndrome in both genders.

Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T.

Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9.

PMID:
22877836
7.

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY.

Ann Neurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715.

8.

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.

Pediatr Res. 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7.

PMID:
20098342
9.

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.

Am J Med Genet A. 2012 Jun;158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11.

PMID:
22581587
10.

MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.

Tang SS, Fernandez D, Lazarou LP, Singh R, Fallon P.

Eur J Paediatr Neurol. 2012 Mar;16(2):209-12. doi: 10.1016/j.ejpn.2011.07.011. Epub 2011 Aug 6.

PMID:
21821449
11.

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.

Vignoli A, Borgatti R, Peron A, Zucca C, Ballarati L, Bonaglia C, Bellini M, Giordano L, Romaniello R, Bedeschi MF, Epifanio R, Russo S, Caselli R, Giardino D, Darra F, La Briola F, Banderali G, Canevini MP.

Epilepsia. 2012 Jul;53(7):1146-55. doi: 10.1111/j.1528-1167.2012.03501.x. Epub 2012 May 11. Review.

12.

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D.

Eur J Hum Genet. 2011 May;19(5):507-12. doi: 10.1038/ejhg.2010.226. Epub 2011 Feb 16.

13.

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.

Am J Med Genet A. 2014 Apr;164A(4):924-33. doi: 10.1002/ajmg.a.36373. Epub 2014 Jan 29.

PMID:
24478188
14.

MECP2 duplication: possible cause of severe phenotype in females.

Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF.

Am J Med Genet A. 2014 Apr;164A(4):1029-34. doi: 10.1002/ajmg.a.36380. Epub 2014 Jan 23.

PMID:
24458799
15.

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.

Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J.

Am J Med Genet A. 2012 Jun;158A(6):1292-303. doi: 10.1002/ajmg.a.35321. Epub 2012 Apr 23.

PMID:
22528406
16.

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J; Japanese Mental Retardation Consortium.

J Hum Genet. 2012 Jan;57(1):73-7. doi: 10.1038/jhg.2011.131. Epub 2011 Dec 1.

PMID:
22129561
17.

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A.

Clin Genet. 2010 Aug;78(2):175-80. doi: 10.1111/j.1399-0004.2010.01371.x. Epub 2010 Jan 5.

PMID:
20236124
18.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB.

Genet Med. 2006 Dec;8(12):784-92.

PMID:
17172942
19.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
20.

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH.

Gene. 2014 Jan 1;533(1):78-85. doi: 10.1016/j.gene.2013.10.001. Epub 2013 Oct 12.

PMID:
24129071

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