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Journal Abstract Search

539 related items for PubMed ID: 27102954

  • 21. Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
    Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, Schaffer A.
    Res Sq; 2023 Sep 06. PubMed ID: 37720017
    [Abstract] [Full Text] [Related]

  • 22. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L.
    Clin Chim Acta; 2017 Jan 06; 464():24-29. PubMed ID: 27983999
    [Abstract] [Full Text] [Related]

  • 23. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
    Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G.
    Hum Genet; 2014 Jul 06; 133(7):939-49. PubMed ID: 24615390
    [Abstract] [Full Text] [Related]

  • 24. A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
    Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W.
    J Med Genet; 2017 Apr 06; 54(4):236-240. PubMed ID: 28143899
    [Abstract] [Full Text] [Related]

  • 25. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
    Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M.
    Eur J Med Genet; 2020 May 06; 63(5):103853. PubMed ID: 31978613
    [Abstract] [Full Text] [Related]

  • 26. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.
    Am J Med Genet A; 2016 Nov 06; 170(11):2927-2933. PubMed ID: 27333055
    [Abstract] [Full Text] [Related]

  • 27. NDST1 missense mutations in autosomal recessive intellectual disability.
    Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K.
    Am J Med Genet A; 2014 Nov 06; 164A(11):2753-63. PubMed ID: 25125150
    [Abstract] [Full Text] [Related]

  • 28. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
    Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.
    Eur J Med Genet; 2014 Oct 06; 57(10):543-51. PubMed ID: 25078763
    [Abstract] [Full Text] [Related]

  • 29. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z, Iqbal Z, Azam M, Ayub H, Vissers LE, Gilissen C, Ali SH, Riaz M, Veltman JA, Pfundt R, van Bokhoven H, Qamar R.
    PLoS One; 2014 Oct 06; 9(11):e112687. PubMed ID: 25405613
    [Abstract] [Full Text] [Related]

  • 30. PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
    Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS.
    Clin Genet; 2018 Jan 06; 93(1):84-91. PubMed ID: 28390064
    [Abstract] [Full Text] [Related]

  • 31. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
    Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M.
    Eur J Med Genet; 2017 Oct 06; 60(10):504-508. PubMed ID: 28687524
    [Abstract] [Full Text] [Related]

  • 32. Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
    Smaili W, Elalaoui SC, Zrhidri A, Raymond L, Egéa G, Taoudi M, Mouatassim SEL, Sefiani A, Lyahyai J.
    Eur J Med Genet; 2020 Jul 06; 63(7):103951. PubMed ID: 32439618
    [Abstract] [Full Text] [Related]

  • 33. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
    Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I.
    Hum Mol Genet; 2013 Jul 01; 22(13):2652-61. PubMed ID: 23466526
    [Abstract] [Full Text] [Related]

  • 34. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
    Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I.
    Eur J Med Genet; 2018 Aug 01; 61(8):442-450. PubMed ID: 29510240
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  • 38. Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
    Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A.
    Am J Med Genet A; 2021 Apr 01; 185(4):1216-1221. PubMed ID: 33427397
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  • 40. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
    Platzer K, Hüning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ.
    Am J Med Genet A; 2014 Aug 01; 164A(8):1976-80. PubMed ID: 24798461
    [Abstract] [Full Text] [Related]

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