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 *

106 related articles for article (PubMed ID: 31942680)

  • 1. Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.
    Yao R; Zhang Y; Liu J; Wang J; Xu Y; Li N; Wang J; Yu T
    J Mol Neurosci; 2020 Jun; 70(6):908-915. PubMed ID: 31942680
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
    Wang JY; Zhou P; Wang J; Tang B; Su T; Liu XR; Li BM; Meng H; Shi YW; Yi YH; He N; Liao WP
    Neurogenetics; 2018 Jan; 19(1):9-16. PubMed ID: 29130122
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
    Scala M; Zonneveld-Huijssoon E; Brienza M; Mecarelli O; van der Hout AH; Zambrelli E; Turner K; Zara F; Peron A; Vignoli A; Striano P
    Neurogenetics; 2021 Mar; 22(1):87-94. PubMed ID: 32939676
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel
    Qiu T; Dai Q; Wang Q
    J Int Med Res; 2021 Nov; 49(11):3000605211058372. PubMed ID: 34851771
    [No Abstract]   [Full Text] [Related]  

  • 5. De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.
    Lesca G; Till M; Labalme A; Vallee D; Hugonenq C; Philip N; Edery P; Sanlaville D
    Am J Med Genet A; 2011 Jul; 155A(7):1706-11. PubMed ID: 21626670
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Clinical analysis of early-onset infantile epileptic encephalopathy associated with synonymous variant of the ARHGEF9 gene].
    Liu Y; Yang L; Li T; Cao R; Ren C; Lei X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1145-1148. PubMed ID: 36184101
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
    Yang H; Liao H; Gan S; Xiao T; Wu L
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1967. PubMed ID: 35638461
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
    Shimojima K; Sugawara M; Shichiji M; Mukaida S; Takayama R; Imai K; Yamamoto T
    J Hum Genet; 2011 Aug; 56(8):561-5. PubMed ID: 21633362
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
    Kalscheuer VM; Musante L; Fang C; Hoffmann K; Fuchs C; Carta E; Deas E; Venkateswarlu K; Menzel C; Ullmann R; Tommerup N; Dalprà L; Tzschach A; Selicorni A; Lüscher B; Ropers HH; Harvey K; Harvey RJ
    Hum Mutat; 2009 Jan; 30(1):61-8. PubMed ID: 18615734
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.
    Aarabi M; Kessler E; Madan-Khetarpal S; Surti U; Bellissimo D; Rajkovic A; Yatsenko SA
    Eur J Med Genet; 2019 Apr; 62(4):239-242. PubMed ID: 30048823
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
    Harvey K; Duguid IC; Alldred MJ; Beatty SE; Ward H; Keep NH; Lingenfelter SE; Pearce BR; Lundgren J; Owen MJ; Smart TG; Lüscher B; Rees MI; Harvey RJ
    J Neurosci; 2004 Jun; 24(25):5816-26. PubMed ID: 15215304
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.
    Papadopoulos T; Schemm R; Grubmüller H; Brose N
    J Biol Chem; 2015 Mar; 290(13):8256-70. PubMed ID: 25678704
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
    Bhat G; LaGrave D; Millson A; Herriges J; Lamb AN; Matalon R
    Eur J Med Genet; 2016 Sep; 59(9):470-3. PubMed ID: 27238888
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA
    Hines DJ; Contreras A; Garcia B; Barker JS; Boren AJ; Moufawad El Achkar C; Moss SJ; Hines RM
    Mol Psychiatry; 2022 Mar; 27(3):1729-1741. PubMed ID: 35169261
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.
    Klein KM; Pendziwiat M; Eilam A; Gilad R; Blatt I; Rosenow F; Kanaan M; Helbig I; Afawi Z;
    J Neurol; 2017 Jul; 264(7):1421-1425. PubMed ID: 28620718
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Patients with ARHGEF9-mutation: a case report and implications of genetic disorders in child psychiatry].
    van Roey W; Vogels A; Emmery P
    Tijdschr Psychiatr; 2019; 61(12):891-896. PubMed ID: 31907904
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability.
    Chiou TT; Long P; Schumann-Gillett A; Kanamarlapudi V; Haas SA; Harvey K; O'Mara ML; De Blas AL; Kalscheuer VM; Harvey RJ
    Front Mol Neurosci; 2019; 12():60. PubMed ID: 30914922
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
    Chen H; Qian Y; Yu S; Xiao D; Guo X; Wang Q; Hao L; Yan K; Lu Y; Dong X; Zhou W; Wu B; Zhou S; Wang H
    Eur J Med Genet; 2019 Feb; 62(2):149-160. PubMed ID: 29981852
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
    Johannsen J; Kortüm F; Rosenberger G; Bokelmann K; Schirmer MA; Denecke J; Santer R
    Neurogenetics; 2018 Aug; 19(3):151-156. PubMed ID: 29808465
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation.
    Freri E; Castellotti B; Didato G; DiFrancesco JC; Granata T
    Sleep Med; 2020 Dec; 76():158-159. PubMed ID: 33220649
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.