345 related articles for article (PubMed ID: 23895774)
1. A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
Takagi M; Sasaki G; Mitsui T; Honda M; Tanaka Y; Hasegawa T
Eur J Med Genet; 2013 Sep; 56(9):526-8. PubMed ID: 23895774
[TBL] [Abstract][Full Text] [Related]
2. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
Allou L; Lambert L; Amsallem D; Bieth E; Edery P; Destrée A; Rivier F; Amor D; Thompson E; Nicholl J; Harbord M; Nemos C; Saunier A; Moustaïne A; Vigouroux A; Jonveaux P; Philippe C
Eur J Hum Genet; 2012 Dec; 20(12):1216-23. PubMed ID: 22739344
[TBL] [Abstract][Full Text] [Related]
3. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Ellaway CJ; Ho G; Bettella E; Knapman A; Collins F; Hackett A; McKenzie F; Darmanian A; Peters GB; Fagan K; Christodoulou J
Eur J Hum Genet; 2013 May; 21(5):522-7. PubMed ID: 22968132
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Vineeth VS; Dutta UR; Tallapaka K; Das Bhowmik A; Dalal A
Gene; 2018 Oct; 673():56-60. PubMed ID: 29920362
[TBL] [Abstract][Full Text] [Related]
5. A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome.
Kumakura A; Takahashi S; Okajima K; Hata D
Brain Dev; 2014 Sep; 36(8):725-9. PubMed ID: 24139857
[TBL] [Abstract][Full Text] [Related]
6. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Kortüm F; Das S; Flindt M; Morris-Rosendahl DJ; Stefanova I; Goldstein A; Horn D; Klopocki E; Kluger G; Martin P; Rauch A; Roumer A; Saitta S; Walsh LE; Wieczorek D; Uyanik G; Kutsche K; Dobyns WB
J Med Genet; 2011 Jun; 48(6):396-406. PubMed ID: 21441262
[TBL] [Abstract][Full Text] [Related]
7. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
Yeung A; Bruno D; Scheffer IE; Carranza D; Burgess T; Slater HR; Amor DJ
Eur J Med Genet; 2009; 52(6):440-2. PubMed ID: 19772934
[TBL] [Abstract][Full Text] [Related]
8. Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.
Perche O; Haddad G; Menuet A; Callier P; Marcos M; Briault S; Laudier B
Am J Med Genet A; 2013 Dec; 161A(12):3072-7. PubMed ID: 23956198
[TBL] [Abstract][Full Text] [Related]
9. Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.
De Bruyn C; Vanderhasselt T; Tanyalçin I; Keymolen K; Van Rompaey KL; De Meirleir L; Jansen AC
Eur J Paediatr Neurol; 2014 May; 18(3):420-6. PubMed ID: 24388699
[TBL] [Abstract][Full Text] [Related]
10. Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
Goubau C; Devriendt K; Van der Aa N; Crepel A; Wieczorek D; Kleefstra T; Willemsen MH; Rauch A; Tzschach A; de Ravel T; Leemans P; Van Geet C; Buyse G; Freson K
Eur J Hum Genet; 2013 Dec; 21(12):1349-55. PubMed ID: 23632790
[TBL] [Abstract][Full Text] [Related]
11. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Brunetti-Pierri N; Paciorkowski AR; Ciccone R; Della Mina E; Bonaglia MC; Borgatti R; Schaaf CP; Sutton VR; Xia Z; Jelluma N; Ruivenkamp C; Bertrand M; de Ravel TJ; Jayakar P; Belli S; Rocchetti K; Pantaleoni C; D'Arrigo S; Hughes J; Cheung SW; Zuffardi O; Stankiewicz P
Eur J Hum Genet; 2011 Jan; 19(1):102-7. PubMed ID: 20736978
[TBL] [Abstract][Full Text] [Related]
12. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.
Selmer KK; Bryne E; Rødningen OK; Fannemel M
Eur J Med Genet; 2012 Dec; 55(12):715-8. PubMed ID: 22975012
[TBL] [Abstract][Full Text] [Related]
13. [Report of a case with 14q12 triplication and literature review for FOXG1 related diseases].
Wang F; Luo R; Zhou B; Yu T; Chen X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):671-675. PubMed ID: 28981930
[TBL] [Abstract][Full Text] [Related]
14. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
Shoichet SA; Kunde SA; Viertel P; Schell-Apacik C; von Voss H; Tommerup N; Ropers HH; Kalscheuer VM
Hum Genet; 2005 Oct; 117(6):536-44. PubMed ID: 16133170
[TBL] [Abstract][Full Text] [Related]
15. An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
Rao A; O'Donnell S; Bain N; Meldrum C; Shorter D; Goel H
Eur J Med Genet; 2014 Feb; 57(2-3):65-70. PubMed ID: 24462883
[TBL] [Abstract][Full Text] [Related]
16. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Dhamija R; Graham JM; Smaoui N; Thorland E; Kirmani S
Eur J Med Genet; 2014 Mar; 57(4):181-4. PubMed ID: 24583203
[TBL] [Abstract][Full Text] [Related]
17. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
Santen GW; Sun Y; Gijsbers AC; Carré A; Holvoet M; Haeringen Av; Lesnik Oberstein SA; Tomoda A; Mabe H; Polak M; Devriendt K; Ruivenkamp CA; Bijlsma EK
J Med Genet; 2012 Jun; 49(6):366-72. PubMed ID: 22636604
[TBL] [Abstract][Full Text] [Related]
18. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
Papa FT; Mencarelli MA; Caselli R; Katzaki E; Sampieri K; Meloni I; Ariani F; Longo I; Maggio A; Balestri P; Grosso S; Farnetani MA; Berardi R; Mari F; Renieri A
Am J Med Genet A; 2008 Aug; 146A(15):1994-8. PubMed ID: 18627055
[TBL] [Abstract][Full Text] [Related]
19. Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.
Wilpert NM; Marguet F; Maillard C; Guimiot F; Martinovic J; Drunat S; Attié-Bitach T; Razavi F; Tessier A; Capri Y; Laquerrière A; Bahi-Buisson N
Eur J Med Genet; 2021 Sep; 64(9):104282. PubMed ID: 34284163
[TBL] [Abstract][Full Text] [Related]
20. Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.
Fryssira H; Tsoutsou E; Psoni S; Amenta S; Liehr T; Anastasakis E; Skentou Ch; Ntouflia A; Papoulidis I; Manolakos E; Chaliasos N
Mol Cytogenet; 2016; 9():55. PubMed ID: 27486480
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
