BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

258 related articles for article (PubMed ID: 22739344)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
    Bahi-Buisson N; Nectoux J; Girard B; Van Esch H; De Ravel T; Boddaert N; Plouin P; Rio M; Fichou Y; Chelly J; Bienvenu T
    Neurogenetics; 2010 May; 11(2):241-9. PubMed ID: 19806373
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
    Terrone G; Bienvenu T; Germanaud D; Barthez-Carpentier MA; Diebold B; Delanoe C; Passemard S; Auvin S
    Epilepsia; 2014 Nov; 55(11):e116-9. PubMed ID: 25266269
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
    Le Guen T; Bahi-Buisson N; Nectoux J; Boddaert N; Fichou Y; Diebold B; Desguerre I; Raqbi F; Daire VC; Chelly J; Bienvenu T
    Neurogenetics; 2011 Feb; 12(1):1-8. PubMed ID: 20734096
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
    Jacob FD; Ramaswamy V; Andersen J; Bolduc FV
    Eur J Hum Genet; 2009 Dec; 17(12):1577-81. PubMed ID: 19623215
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
    Zhang Q; Wang J; Li J; Bao X; Zhao Y; Zhang X; Wei L; Wu X
    BMC Med Genet; 2017 Aug; 18(1):96. PubMed ID: 28851325
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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]  

  • 18. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
    Philippe C; Amsallem D; Francannet C; Lambert L; Saunier A; Verneau F; Jonveaux P
    J Med Genet; 2010 Jan; 47(1):59-65. PubMed ID: 19564653
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation.
    Harada K; Yamamoto M; Konishi Y; Koyano K; Takahashi S; Namba M; Kusaka T
    Brain Dev; 2018 Jan; 40(1):49-52. PubMed ID: 28781028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.
    Das DK; Jadhav V; Ghattargi VC; Udani V
    Gene; 2014 Mar; 538(1):109-12. PubMed ID: 24412290
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.