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Results: 1 to 20 of 29

PubMed Links for Books (Select 1489978)

1.

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G.

Hum Genet. 2014 Nov;133(11):1359-67. doi: 10.1007/s00439-014-1469-6. Epub 2014 Jul 19.

PMID:
25037250
2.

Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.

Caumes R, Boespflug-Tanguy O, Villeneuve N, Lambert L, Delanoe C, Leheup B, Bahi-Buisson N, Auvin S.

Eur J Paediatr Neurol. 2014 Jul;18(4):475-81. doi: 10.1016/j.ejpn.2014.03.005. Epub 2014 Mar 26.

PMID:
24703762
3.

MECP2 duplication phenotype in symptomatic females: report of three further cases.

Novara F, Simonati A, Sicca F, Battini R, Fiori S, Contaldo A, Criscuolo L, Zuffardi O, Ciccone R.

Mol Cytogenet. 2014 Jan 28;7(1):10. doi: 10.1186/1755-8166-7-10.

4.

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
5.

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.

Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB.

Autism Res. 2013 Feb;6(1):42-50. doi: 10.1002/aur.1262. Epub 2012 Nov 20.

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.

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Philippe O, Rio M, Malan V, Van Esch H, Baujat G, Bahi-Buisson N, Valayannopoulos V, Gesny R, Bonnefont JP, Munnich A, Froyen G, Amiel J, Boddaert N, Colleaux L.

Eur J Hum Genet. 2013 Feb;21(2):195-9. doi: 10.1038/ejhg.2012.140. Epub 2012 Jul 18.

8.

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
9.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA.

Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29.

10.

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
11.

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
12.

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.

Eur J Hum Genet. 2011 Apr;19(4):409-15. doi: 10.1038/ejhg.2010.195. Epub 2010 Dec 1. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1110.

13.

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
14.

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.

15.

Neurologic aspects of MECP2 gene duplication in male patients.

Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP.

Pediatr Neurol. 2009 Sep;41(3):187-91. doi: 10.1016/j.pediatrneurol.2009.03.012.

PMID:
19664534
16.

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT.

Clin Dysmorphol. 2009 Jan;18(1):9-12.

PMID:
19090026
17.

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.

Prescott TE, Rødningen OK, Bjørnstad A, Stray-Pedersen A.

Clin Dysmorphol. 2009 Apr;18(2):78-82. doi: 10.1097/MCD.0b013e32831e19cd.

PMID:
19057379
18.

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C.

Clin Genet. 2009 Mar;75(3):301-3. doi: 10.1111/j.1399-0004.2008.01102.x. Epub 2008 Nov 1. No abstract available.

PMID:
19018795
19.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Erratum in: Eur J Hum Genet. 2009 May;17(5):697.

20.

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.

Ramocki MB, Zoghbi HY.

Nature. 2008 Oct 16;455(7215):912-8. doi: 10.1038/nature07457. Review.

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