-
1
-
-
70350621757
-
4.45Mb microduplication in chromosome band14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
-
Yeung A, Bruno D, Scheffer IE et al: 4.45Mb microduplication in chromosome band14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.Eur J Med Genet 2009; 52: 440-442.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 440-442
-
-
Yeung, A.1
Bruno, D.2
Scheffer, I.E.3
-
2
-
-
79955642804
-
West syndrome associated with 14q12duplications harboring FOXG1
-
Striano P, Paravidino R, Sicca F et al: West syndrome associated with 14q12duplications harboring FOXG1. Neurology 2011; 76: 1600-1602.
-
(2011)
Neurology
, vol.76
, pp. 1600-1602
-
-
Striano, P.1
Paravidino, R.2
Sicca, F.3
-
3
-
-
78650067986
-
Duplications of FOXG1 in 14q12are associated with developmental epilepsy, mental retardation, and severe speechimpairment
-
Brunetti-Pierri N, Paciorkowski AR, Ciccone R et al: Duplications of FOXG1 in 14q12are associated with developmental epilepsy, mental retardation, and severe speechimpairment. Eur J Hum Genet 2011; 19: 102-107.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 102-107
-
-
Brunetti-Pierri, N.1
Paciorkowski, A.R.2
Ciccone, R.3
-
4
-
-
77954825691
-
Emx2 and Foxg1 inhibit gliogenesis andpromote neuronogenesis
-
Brancaccio M, Pivetta C, Granzotto M et al: Emx2 and Foxg1 inhibit gliogenesis andpromote neuronogenesis. Stem Cells 2010; 28: 1206-1218.
-
(2010)
Stem Cells
, vol.28
, pp. 1206-1218
-
-
Brancaccio, M.1
Pivetta, C.2
Granzotto, M.3
-
5
-
-
84861199848
-
Questionable pathogenicity of FOXG1 duplication
-
Amor DJ, Burgess T, Tan TY et al: Questionable pathogenicity of FOXG1 duplication.Eur J Hum Genet 2012; 20: 595-596.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 595-596
-
-
Amor, D.J.1
Burgess, T.2
Tan, T.Y.3
-
7
-
-
34250305146
-
Identification and analysis of functional elements in 1%of the human genome by the ENCODE pilot project
-
ENCODE Project Consortium
-
ENCODE Project Consortium. Identification and analysis of functional elements in 1%of the human genome by the ENCODE pilot project. Nature 2007; 447: 799-816.
-
(2007)
Nature
, vol.447
, pp. 799-816
-
-
-
8
-
-
7444260846
-
The ENCODE (ENCyclopedia of DNA Elements
-
ENCODE Project Consortium
-
ENCODE Project Consortium. The ENCODE (ENCyclopedia Of DNA Elements) Project.Science 2004; 306: 636-640.
-
(2004)
Project.Science
, vol.306
, pp. 636-640
-
-
-
9
-
-
1842717951
-
Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat
-
DOI 10.1101/gr.1976004
-
Kolbe D, Taylor J, Elnitski L et al: Regulatory potential scores from genome-widethree-way alignments of human, mouse, and rat. Genome Res 2004; 14: 700-707. (Pubitemid 38500243)
-
(2004)
Genome Research
, vol.14
, Issue.4
, pp. 700-707
-
-
Kolbe, D.1
Taylor, J.2
Elnitski, L.3
Eswara, P.4
Li, J.5
Miller, W.6
Hardison, R.7
Chiaromonte, F.8
-
10
-
-
27544496495
-
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
-
DOI 10.1007/s00439-005-1310-3
-
Shoichet SA, Kunde SA, Viertel P et al: Haploinsufficiency of novel FOXG1B variantsin a patient with severe mental retardation, brain malformations and microcephaly.Hum Genet 2005; 117: 536-544. (Pubitemid 41535575)
-
(2005)
Human Genetics
, vol.117
, Issue.6
, pp. 536-544
-
-
Shoichet, S.A.1
Kunde, S.A.2
Viertel, P.3
Schell-Apacik, C.4
Von Voss, H.5
Tommerup, N.6
Ropers, H.-H.7
Kalscheuer, V.M.8
-
11
-
-
79958061872
-
The core FOXG1 syndrome phenotype consists ofpostnatal microcephaly, severe mental retardation, absent language, dyskinesia, andcorpus callosum hypogenesis
-
Kortüm F, Das S, Flindt M et al: The core FOXG1 syndrome phenotype consists ofpostnatal microcephaly, severe mental retardation, absent language, dyskinesia, andcorpus callosum hypogenesis. J Med Genet 2011; 48: 396-406
-
(2011)
J Med Genet
, vol.48
, pp. 396-406
-
-
Kortüm, F.1
Das, S.2
Flindt, M.3
|