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Journal Abstract Search

128 related items for PubMed ID: 31703139

  • 1. [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 10; 36(11):1115-1119. PubMed ID: 31703139
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  • 2. 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 10; 170(7):1772-9. PubMed ID: 27108886
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  • 3. [Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].
    Shen X, Qi F, Gu C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb 10; 37(2):131-134. PubMed ID: 32034737
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  • 4. [X-linked mental retardation combined with autism caused by a novel hemizygous mutation of GRIA3 gene].
    Bai Z, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug 10; 36(8):829-833. PubMed ID: 31400139
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  • 7. [Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42].
    Ren Y, Lyu Y, Ma J, Wang D, Zhang G, Liu Y, Gai Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun 10; 38(6):565-568. PubMed ID: 34096027
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  • 8. 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 10; 174(8):839-845. PubMed ID: 29031008
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  • 10. [Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene].
    Ma J, Zhang H, Zhang K, Lyu Y, Gao M, Wang D, Gai Z, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov 10; 37(11):1253-1256. PubMed ID: 33179233
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  • 12. Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
    Alvarez-Mora MI, Corominas J, Gilissen C, Sanchez A, Madrigal I, Rodriguez-Revenga L.
    Genes (Basel); 2021 Apr 12; 12(4):. PubMed ID: 33921338
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  • 13. Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability.
    Hnoonual A, Graidist P, Kritsaneepaiboon S, Limprasert P.
    Front Genet; 2019 Apr 12; 10():61. PubMed ID: 30853973
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  • 15. [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
    Zhao J, Yang X, Li J, Wang H, Zhang W, Fang F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr 10; 39(4):421-424. PubMed ID: 35446980
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  • 16. [A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
    Shen Y, Luo G, Lu C, Tan Y, Cheng T, Qian X, Li N, Luo M, Cao Z, Ma X, Zhao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan 10; 40(1):57-61. PubMed ID: 36585002
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  • 18. 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 10; 85(6):909-15. PubMed ID: 20004765
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  • 19. 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 10; 55(12):727-31. PubMed ID: 22989526
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  • 20. Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.
    Khattak NA, Mir A.
    CNS Neurol Disord Drug Targets; 2014 Dec 10; 13(4):699-711. PubMed ID: 24040793
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