These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 38056433)

  • 1. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
    Brea-Fernández AJ; Souto-Trinei FA; Iglesias E; Caamaño P; Rodríguez Sánchez B; Gómez Lado C; Eiris J; Fernández-Prieto M; Barros F; Brea RJ; Carracedo Á
    Cytogenet Genome Res; 2023; 163(5-6):301-306. PubMed ID: 38056433
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
    van der Schoot V; de Munnik S; Venselaar H; Elting M; Mancini GMS; Ravenswaaij-Arts CMA; Anderlid BM; Brunner HG; Stevens SJC
    Mol Genet Genomic Med; 2018 May; 6(3):393-400. PubMed ID: 29573576
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
    Cohen JS; Srivastava S; Farwell Hagman KD; Shinde DN; Huether R; Darcy D; Wallerstein R; Houge G; Berland S; Monaghan KG; Poretti A; Wilson AL; Chung WK; Fatemi A
    Clin Genet; 2017 May; 91(5):697-707. PubMed ID: 27598823
    [TBL] [Abstract][Full Text] [Related]  

  • 4. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
    Mazel B; Delanne J; Garde A; Racine C; Bruel AL; Duffourd Y; Lopergolo D; Santorelli FM; Marchi V; Pinto AM; Mencarelli MA; Canitano R; Valentino F; Papa FT; Fallerini C; Mari F; Renieri A; Munnich A; Niclass T; Le Guyader G; Thauvin-Robinet C; Philippe C; Faivre L
    Am J Med Genet B Neuropsychiatr Genet; 2024 Sep; 195(6):e32970. PubMed ID: 38459409
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.
    Han L; Chen M; Wang Y; Wu H; Quan Y; Bai T; Li K; Duan G; Gao Y; Hu Z; Xia K; Guo H
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00789. PubMed ID: 31199603
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.
    Jang HN; Kim T; Jung AY; Lee BH; Yum MS; Ko TS
    Medicine (Baltimore); 2021 Nov; 100(47):e27949. PubMed ID: 34964776
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.
    Ehmke N; Karge S; Buchmann J; Korinth D; Horn D; Reis O; Häßler F
    Am J Med Genet A; 2017 May; 173(5):1251-1256. PubMed ID: 28345786
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly.
    Cavallin M; Maillard C; Hully M; Philbert M; Boddaert N; Reilly ML; Nitschké P; Bery A; Bahi-Buisson N
    Eur J Med Genet; 2018 Dec; 61(12):729-732. PubMed ID: 29758293
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
    Ghasemi MR; Sadeghi H; Hashemi-Gorji F; Mirfakhraie R; Gupta V; Ben-Mahmoud A; Bagheri S; Razjouyan K; Salehpour S; Tonekaboni SH; Dianatpour M; Omrani D; Jang MH; Layman LC; Miryounesi M; Kim HG
    BMC Med Genomics; 2024 Aug; 17(1):196. PubMed ID: 39103847
    [TBL] [Abstract][Full Text] [Related]  

  • 16. General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
    Hemming IA; Blake S; Agostino M; Heng JI
    Hum Mutat; 2020 Sep; 41(9):1629-1644. PubMed ID: 32598555
    [TBL] [Abstract][Full Text] [Related]  

  • 17. FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
    Mitter D; Pringsheim M; Kaulisch M; Plümacher KS; Schröder S; Warthemann R; Abou Jamra R; Baethmann M; Bast T; Büttel HM; Cohen JS; Conover E; Courage C; Eger A; Fatemi A; Grebe TA; Hauser NS; Heinritz W; Helbig KL; Heruth M; Huhle D; Höft K; Karch S; Kluger G; Korenke GC; Lemke JR; Lutz RE; Patzer S; Prehl I; Hoertnagel K; Ramsey K; Rating T; Rieß A; Rohena L; Schimmel M; Westman R; Zech FM; Zoll B; Malzahn D; Zirn B; Brockmann K
    Genet Med; 2018 Jan; 20(1):98-108. PubMed ID: 28661489
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 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. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
    de Munnik SA; García-Miñaúr S; Hoischen A; van Bon BW; Boycott KM; Schoots J; Hoefsloot LH; Knoers NV; Bongers EM; Brunner HG
    Eur J Hum Genet; 2014 Jun; 22(6):844-6. PubMed ID: 24193349
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.