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Journal Abstract Search

346 related items for PubMed ID: 29322246

  • 1. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
    Hiraide T, Nakashima M, Yamoto K, Fukuda T, Kato M, Ikeda H, Sugie Y, Aoto K, Kaname T, Nakabayashi K, Ogata T, Matsumoto N, Saitsu H.
    Hum Genet; 2018 Jan; 137(1):95-104. PubMed ID: 29322246
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  • 2. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
    Labonne JD, Lee KH, Iwase S, Kong IK, Diamond MP, Layman LC, Kim CH, Kim HG.
    Hum Genet; 2016 Jul; 135(7):757-71. PubMed ID: 27106595
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  • 3. SETD1B-associated neurodevelopmental disorder.
    Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT, CAUSES Study, EPGEN Study.
    J Med Genet; 2021 Mar; 58(3):196-204. PubMed ID: 32546566
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  • 4. A novel de novo frameshift variant in SETD1B causes epilepsy.
    Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N.
    J Hum Genet; 2019 Aug; 64(8):821-827. PubMed ID: 31110234
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  • 10. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
    Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW.
    J Biol Chem; 2017 Mar 03; 292(9):3866-3876. PubMed ID: 28057753
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  • 12. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
    Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.
    J Med Genet; 2010 May 03; 47(5):332-41. PubMed ID: 19914906
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  • 13. Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and Epilepsy.
    Weng R, Nenning KH, Schwarz M, Riedhammer KM, Brunet T, Wagner M, Kasprian G, Lehrner J, Zimprich F, Bonelli SB, Krenn M.
    J Dev Behav Pediatr; 2022 Aug 01; 43(6):e419-e422. PubMed ID: 35385430
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  • 14. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.
    Genome Med; 2019 Feb 28; 11(1):12. PubMed ID: 30819258
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  • 15. De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
    Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N.
    Eur J Hum Genet; 2019 Mar 28; 27(3):378-383. PubMed ID: 30487643
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  • 16. Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.
    Donoghue T, Garrity L, Ziolkowski A, McPhillips M, Buckman M, Goel H.
    Am J Med Genet A; 2020 Jul 28; 182(7):1801-1806. PubMed ID: 32424948
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