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Journal Abstract Search

117 related items for PubMed ID: 24040793

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  • 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
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  • 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 08; 15(1):236. PubMed ID: 36348459
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  • 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 08; 55(12):727-31. PubMed ID: 22989526
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  • 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 08; 82(5):1158-64. PubMed ID: 18452889
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  • 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 08; 170(7):1772-9. PubMed ID: 27108886
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  • 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 10; 36(11):1115-1119. PubMed ID: 31703139
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