-
1
-
-
33646505092
-
X-linked mental retardation: Many genes for a complex disorder
-
16647850 10.1016/j.gde.2006.04.017 1:CAS:528:DC%2BD28Xks1ersbo%3D
-
HH Ropers 2006 X-linked mental retardation: many genes for a complex disorder Curr Opin Genet Dev 16 260 269 16647850 10.1016/j.gde.2006.04.017 1:CAS:528:DC%2BD28Xks1ersbo%3D
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 260-269
-
-
Ropers, H.H.1
-
2
-
-
61849170131
-
Distal Xq duplication and functional Xq disomy
-
10.1186/1750-1172-4-4
-
D Sanlaville C Schluth-Bolard C Turleau 2009 Distal Xq duplication and functional Xq disomy J Rare Dis 4 4 10.1186/1750-1172-4-4
-
(2009)
J Rare Dis
, vol.4
, pp. 4
-
-
Sanlaville, D.1
Schluth-Bolard, C.2
Turleau, C.3
-
3
-
-
23944509593
-
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
-
15689435 10.1136/jmg.2004.023804 1:STN:280:DC%2BD2M%2FmtFalsQ%3D%3D
-
M Meins J Lehmann F Gerresheim J Herchenbach M Hagedorn K Hameister JT Epplen 2005 Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome J Med Genet 42 e12 15689435 10.1136/jmg.2004.023804 1:STN:280:DC%2BD2M%2FmtFalsQ%3D%3D
-
(2005)
J Med Genet
, vol.42
, pp. 12
-
-
Meins, M.1
Lehmann, J.2
Gerresheim, F.3
Herchenbach, J.4
Hagedorn, M.5
Hameister, K.6
Epplen, J.T.7
-
4
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
DOI 10.1086/444549
-
H Van Esch M Bauters J Ignatius M Jansen M Raynaud K Hollanders D Lugtenberg T Bienvenu LR Jensen J Gecz C Moraine P Marynen JP Fryns G Froyen 2005 Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males Am J Hum Genet 77 442 453 16080119 10.1086/444549 (Pubitemid 41192650)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.3
, pp. 442-453
-
-
Van Esch, H.1
Bauters, M.2
Ignatius, J.3
Jansen, M.4
Raynaud, M.5
Hollanders, K.6
Lugtenberg, D.7
Bienvenu, T.8
Jensen, L.R.9
Gecz, J.10
Moraine, C.11
Marynen, P.12
Fryns, J.-P.13
Froyen, G.14
-
5
-
-
33749081269
-
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
-
DOI 10.1097/01.gim.0000250502.28516.3c, PII 0012581720061200000008
-
D del Gaudio P Fang F Scaglia PA Ward WJ Craigen DG Glaze JL Neul A Patel JA Lee M Irons SA Berry AA Pursley TA Grebe D Freedenberg RA Martin GE Hsich JR Khera NR Friedman HY Zoghbi CM Eng JR Lupski SW Beaudet al Cheung BB Roa 2006 Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males Genet Med 8 784 792 17172942 10.1097/01.gim.0000250502.28516.3c (Pubitemid 44973767)
-
(2006)
Genetics in Medicine
, vol.8
, Issue.12
, pp. 784-792
-
-
Del Gaudio, D.1
Fang, P.2
Scaglia, F.3
Ward, P.A.4
Craigen, W.J.5
Glaze, D.G.6
Neul, J.L.7
Patel, A.8
Lee, J.A.9
Irons, M.10
Berry, S.A.11
Pursley, A.A.12
Grebe, T.A.13
Freedenberg, D.14
Martin, R.A.15
Hsich, G.E.16
Khera, J.R.17
Friedman, N.R.18
Zoghbi, H.Y.19
Eng, C.M.20
Lupski, J.R.21
Beaudet, A.L.22
Cheung, S.W.23
Roa, B.B.24
more..
-
6
-
-
33845772985
-
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
-
DOI 10.1542/peds.2006-0395
-
MJ Friez JR Jones K Clarkson H Lubs D Abuelo JA Bier S Pai R Simensen C Williams PF Giampietro CE Schwartz RE Stevenson 2006 Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28 Pediatrics 118 e1687 e1695 17088400 10.1542/peds.2006-0395 (Pubitemid 46397542)
-
(2006)
Pediatrics
, vol.118
, Issue.6
-
-
Friez, M.J.1
Jones, J.R.2
Clarkson, K.3
Lubs, H.4
Abuelo, D.5
Bier, J.-A.B.6
Pai, S.7
Simensen, R.8
Williams, C.9
Giampietro, P.F.10
Schwartz, C.E.11
Stevenson, R.E.12
-
7
-
-
51449090280
-
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
-
18165974 10.1002/ajmg.b.30683 1:STN:280:DC%2BD1crmvVaksQ%3D%3D
-
M Smyk E Obersztyn B Nowakowska M Nawara SW Cheung T Mazurczak P Stankiewicz E Bocian 2008 Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections Am J Med Genet B Neuropsychiatr Genet 147B 799 806 18165974 10.1002/ajmg.b.30683 1:STN:280:DC%2BD1crmvVaksQ%3D%3D
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147
, pp. 799-806
-
-
Smyk, M.1
Obersztyn, E.2
Nowakowska, B.3
Nawara, M.4
Cheung, S.W.5
Mazurczak, T.6
Stankiewicz, P.7
Bocian, E.8
-
8
-
-
62849114217
-
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
-
18854860 10.1038/ejhg.2008.192 1:CAS:528:DC%2BD1MXjtlOnu78%3D
-
J Clayton-Smith S Walters E Hobson E Burkitt-Wright R Smith A Toutain J Amiel S Lyonnet S Mansour D Fitzpatrick R Ciccone I Ricca O Zuffardi D Donnai 2009 Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance Eur J Hum Genet 17 434 443 18854860 10.1038/ejhg.2008.192 1:CAS:528:DC%2BD1MXjtlOnu78%3D
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 434-443
-
-
Clayton-Smith, J.1
Walters, S.2
Hobson, E.3
Burkitt-Wright, E.4
Smith, R.5
Toutain, A.6
Amiel, J.7
Lyonnet, S.8
Mansour, S.9
Fitzpatrick, D.10
Ciccone, R.11
Ricca, I.12
Zuffardi, O.13
Donnai, D.14
-
9
-
-
66149101718
-
Two brothers with a microduplication including the MECP2 gene: Rapid head growth in infancy and resolution of susceptibility to infection
-
19057379 10.1097/MCD.0b013e32831e19cd
-
TE Prescott OK Rødningen A Bjørnstad A Stray-Pedersen 2009 Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection Clin Dysmorphol 18 78 82 19057379 10.1097/MCD.0b013e32831e19cd
-
(2009)
Clin Dysmorphol
, vol.18
, pp. 78-82
-
-
Prescott, T.E.1
Rødningen, O.K.2
Bjørnstad, A.3
Stray-Pedersen, A.4
-
10
-
-
67949111251
-
Neurologic aspects of MECP2 gene duplication in male patients
-
19664534 10.1016/j.pediatrneurol.2009.03.012
-
B Echenne A Roubertie D Lugtenberg T Kleefstra BC Hamel H Van Bokhoven D Lacombe C Philippe P Jonveaux AP de Brouwer 2009 Neurologic aspects of MECP2 gene duplication in male patients Pediatr Neurol 41 187 191 19664534 10.1016/j.pediatrneurol.2009.03.012
-
(2009)
Pediatr Neurol
, vol.41
, pp. 187-191
-
-
Echenne, B.1
Roubertie, A.2
Lugtenberg, D.3
Kleefstra, T.4
Hamel, B.C.5
Van Bokhoven, H.6
Lacombe, D.7
Philippe, C.8
Jonveaux, P.9
De Brouwer, A.P.10
-
11
-
-
66149139048
-
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
-
20035514 10.1002/ana.21715 1:CAS:528:DC%2BC3cXhtlams7Y%3D
-
MB Ramocki SU Peters YJ Tavyev F Zhang CM Carvalho CP Schaaf R Richman P Fang DG Glaze JR Lupski HY Zoghbi 2009 Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome Ann Neurol 66 771 782 20035514 10.1002/ana.21715 1:CAS:528:DC%2BC3cXhtlams7Y%3D
-
(2009)
Ann Neurol
, vol.66
, pp. 771-782
-
-
Ramocki, M.B.1
Peters, S.U.2
Tavyev, Y.J.3
Zhang, F.4
Carvalho, C.M.5
Schaaf, C.P.6
Richman, R.7
Fang, P.8
Glaze, D.G.9
Lupski, J.R.10
Zoghbi, H.Y.11
-
12
-
-
62849107557
-
Structural variation in Xq28: MECP2 duplication in 1% of patients with unexplaoned 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 (2009) Structural variation in Xq28: MECP2 duplication in 1% of patients with unexplaoned XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet 17:444-453
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 444-453
-
-
Lugtenberg, D.1
Kleefstra, T.2
Oudakker, A.R.3
Nillesen, W.M.4
Yntema, H.G.5
Tzschach, A.6
Raynaud, M.7
Rating, D.8
Journel, H.9
Chelly, J.10
Goizet, C.11
Lacombe, D.12
Pedespan, J.M.13
Echenne, B.14
Tariverdian, G.15
O'Rourke, D.16
King, M.D.17
Green, A.18
Van Kogelenberg, M.19
Van Esch, H.20
Gecz, J.21
Hamel, B.C.22
Van Bokhoven, H.23
De Brouwer, A.P.24
more..
-
13
-
-
75549089967
-
The UCSC Genome Browser database: Update 2010
-
Rhead B, Karolchik D, Kuhn RM, Hinrichs AS, Zweig AS, Fujita P, Diekhans M, Smith KE, Rosenbloom KR, Raney BJ, Pohl A, Pheasant M, Meyer L, Hsu F, Hillman-Jackson J, Harte RA, Giardine B, Dreszer T, Clawson H, Barber GP, Haussler D, Kent WJ (2010) The UCSC Genome Browser database: update 2010. Nucleic Acids Res 38 D613-D619. http://www.genome.ucsc.edu/
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Rhead, B.1
Karolchik, D.2
Kuhn, R.M.3
Hinrichs, A.S.4
Zweig, A.S.5
Fujita, P.6
Diekhans, M.7
Smith, K.E.8
Rosenbloom, K.R.9
Raney, B.J.10
Pohl, A.11
Pheasant, M.12
Meyer, L.13
Hsu, F.14
Hillman-Jackson, J.15
Harte, R.A.16
Giardine, B.17
Dreszer, T.18
Clawson, H.19
Barber, G.P.20
Haussler, D.21
Kent, W.J.22
more..
-
14
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
DOI 10.1038/ng1416
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949-951. http://www.projects.tcag.ca/variation/ (Pubitemid 39167488)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
15
-
-
69749121852
-
High resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
-
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Franckelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield J, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SFA, White PS, Hakonarson H (2009) High resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res 19:1682-1690. http://cnv.chop.edu/
-
(2009)
Genome Res
, vol.19
, pp. 1682-1690
-
-
Shaikh, T.H.1
Gai, X.2
Perin, J.C.3
Glessner, J.T.4
Xie, H.5
Murphy, K.6
O'Hara, R.7
Casalunovo, T.8
Conlin, L.K.9
D'Arcy, M.10
Franckelton, E.C.11
Geiger, E.A.12
Haldeman-Englert, C.13
Imielinski, M.14
Kim, C.E.15
Medne, L.16
Annaiah, K.17
Bradfield, J.18
Dabaghyan, E.19
Eckert, A.20
Onyiah, C.C.21
Ostapenko, S.22
Otieno, F.G.23
Santa, E.24
Shaner, J.L.25
Skraban, R.26
Smith, R.M.27
Elia, J.28
Goldmuntz, E.29
Spinner, N.B.30
Zackai, E.H.31
Chiavacci, R.M.32
Grundmeier, R.33
Rappaport, E.F.34
Sfa, G.35
White, P.S.36
Hakonarson, H.37
more..
|