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 *

121 related articles for article (PubMed ID: 24040793)

  • 1. Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.
    Khattak NA; Mir A
    CNS Neurol Disord Drug Targets; 2014; 13(4):699-711. PubMed ID: 24040793
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
    Mir A; Kaufman L; Noor A; Motazacker MM; Jamil T; Azam M; Kahrizi K; Rafiq MA; Weksberg R; Nasr T; Naeem F; Tzschach A; Kuss AW; Ishak GE; Doherty D; Ropers HH; Barkovich AJ; Najmabadi H; Ayub M; Vincent JB
    Am J Hum Genet; 2009 Dec; 85(6):909-15. PubMed ID: 20004765
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
    Abbasi AA; Blaesius K; Hu H; Latif Z; Picker-Minh S; Khan MN; Farooq S; Khan MA; Kaindl AM
    Am J Med Genet B Neuropsychiatr Genet; 2017 Dec; 174(8):839-845. PubMed ID: 29031008
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
    Amin M; Vignal C; Eltaraifee E; Mohammed IN; Hamed AAA; Elseed MA; Babai A; Elbadi I; Mustafa D; Abubaker R; Mustafa M; Drunat S; Elsayed LEO; Ahmed AE; Boespflug-Tanguy O; Dorboz I
    BMC Med Genomics; 2022 Nov; 15(1):236. PubMed ID: 36348459
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
    Kakar N; Goebel I; Daud S; Nürnberg G; Agha N; Ahmad A; Nürnberg P; Kubisch C; Ahmad J; Borck G
    Eur J Med Genet; 2012 Dec; 55(12):727-31. PubMed ID: 22989526
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR.
    Rehman SU; Khan RM; Khan RA; Hassan I; Muhammad N; Arif M
    J Pak Med Assoc; 2021 Sep; 71(9):2250-2254. PubMed ID: 34580524
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
    Basel-Vanagaite L; Attia R; Yahav M; Ferland RJ; Anteki L; Walsh CA; Olender T; Straussberg R; Magal N; Taub E; Drasinover V; Alkelai A; Bercovich D; Rechavi G; Simon AJ; Shohat M
    J Med Genet; 2006 Mar; 43(3):203-10. PubMed ID: 16033914
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
    Mochida GH; Mahajnah M; Hill AD; Basel-Vanagaite L; Gleason D; Hill RS; Bodell A; Crosier M; Straussberg R; Walsh CA
    Am J Hum Genet; 2009 Dec; 85(6):897-902. PubMed ID: 20004763
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
    Garshasbi M; Kahrizi K; Hosseini M; Nouri Vahid L; Falah M; Hemmati S; Hu H; Tzschach A; Ropers HH; Najmabadi H; Kuss AW
    Am J Med Genet A; 2011 Aug; 155A(8):1976-80. PubMed ID: 21739581
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
    Garshasbi M; Hadavi V; Habibi H; Kahrizi K; Kariminejad R; Behjati F; Tzschach A; Najmabadi H; Ropers HH; Kuss AW
    Am J Hum Genet; 2008 May; 82(5):1158-64. PubMed ID: 18452889
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
    Mortreux J; Busa T; Germain DP; Nadeau G; Puechberty J; Coubes C; Gatinois V; Cacciagli P; Duffourd Y; Pinard JM; Tevissen H; Villard L; Sanlaville D; Philip N; Missirian C
    Eur J Hum Genet; 2018 Jan; 26(1):143-148. PubMed ID: 29187737
    [TBL] [Abstract][Full Text] [Related]  

  • 13. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.
    Marangi G; Leuzzi V; Manti F; Lattante S; Orteschi D; Pecile V; Neri G; Zollino M
    Eur J Hum Genet; 2013 Feb; 21(2):229-32. PubMed ID: 22549410
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
    Kuss AW; Garshasbi M; Kahrizi K; Tzschach A; Behjati F; Darvish H; Abbasi-Moheb L; Puettmann L; Zecha A; Weissmann R; Hu H; Mohseni M; Abedini SS; Rajab A; Hertzberg C; Wieczorek D; Ullmann R; Ghasemi-Firouzabadi S; Banihashemi S; Arzhangi S; Hadavi V; Bahrami-Monajemi G; Kasiri M; Falah M; Nikuei P; Dehghan A; Sobhani M; Jamali P; Ropers HH; Najmabadi H
    Hum Genet; 2011 Feb; 129(2):141-8. PubMed ID: 21063731
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
    Zong M; Wu XG; Chan CW; Choi MY; Chan HC; Tanner JA; Yu S
    PLoS One; 2011; 6(8):e23350. PubMed ID: 21858081
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Diagnosis of a case with mental retardation due to novel compound heterozygous variants of TRAPPC9 gene].
    Bai Z; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1115-1119. PubMed ID: 31703139
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition.
    Ali Khan Q; Khan R; Verma R; Shah SD; Vattikuti B; Khan AZ; Shahzadi A; Abdi P; Anthony M; Farkouh CS; Farkouh M; Santiago N; Zepeda D; Nunez A
    Cureus; 2023 Jan; 15(1):e34085. PubMed ID: 36843831
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.
    Aslanger AD; Goncu B; Duzenli OF; Yucesan E; Sengenc E; Yesil G
    J Hum Genet; 2022 May; 67(5):279-284. PubMed ID: 34983975
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes.
    Mhamdi O; Kharrat M; Mrad R; Maazoul F; Chaabouni Bouhamed H
    Tunis Med; 2011 May; 89(5):479-84. PubMed ID: 21557188
    [TBL] [Abstract][Full Text] [Related]  

  • 20. TRAPPC9: Novel insights into its trafficking and signaling pathways in health and disease (Review).
    Mbimba T; Hussein NJ; Najeed A; Safadi FF
    Int J Mol Med; 2018 Dec; 42(6):2991-2997. PubMed ID: 30272317
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.