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Journal Abstract Search

107 related items for PubMed ID: 34713510

  • 1. Two novel pathogenic variants in MED13L: one familial and one isolated case.
    Carvalho LML, da Costa SS, Campagnari F, Kaufman A, Bertola DR, da Silva IT, Krepischi ACV, Koiffmann CP, Rosenberg C.
    J Intellect Disabil Res; 2021 Dec; 65(12):1049-1057. PubMed ID: 34713510
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  • 2. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
    Yi Z, Zhang Y, Song Z, Pan H, Yang C, Li F, Xue J, Qu Z.
    Ital J Pediatr; 2020 Jul 09; 46(1):95. PubMed ID: 32646507
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  • 3. Is MED13L-related intellectual disability a recognizable syndrome?
    Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.
    Eur J Med Genet; 2019 Feb 09; 62(2):129-136. PubMed ID: 29959045
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  • 4. MED13L-related intellectual disability due to paternal germinal mosaicism.
    Bessenyei B, Balogh I, Mokánszki A, Ujfalusi A, Pfundt R, Szakszon K.
    Cold Spring Harb Mol Case Stud; 2022 Jan 09; 8(1):. PubMed ID: 34654706
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  • 5. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep 09; 60(9):451-464. PubMed ID: 28645799
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  • 6. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
    Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M.
    Eur J Hum Genet; 2015 Nov 09; 23(11):1499-504. PubMed ID: 25712080
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  • 7. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
    Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.
    Neurogenetics; 2018 May 09; 19(2):93-103. PubMed ID: 29511999
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  • 8. Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
    Siavrienė E, Petraitytė G, Mikštienė V, Maldžienė Ž, Sasnauskienė A, Žitkutė V, Ambrozaitytė L, Rančelis T, Utkus A, Kučinskas V, Preikšaitienė E.
    Medicina (Kaunas); 2023 Jun 29; 59(7):. PubMed ID: 37512036
    [Abstract] [Full Text] [Related]

  • 9. The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
    Dawidziuk M, Kutkowska-Kaźmierczak A, Gawliński P, Wiszniewski W, Gos M, Stawiński P, Rydzanicz M, Kosińska J, Własienko P, Malinowska Kordowska O, Bartnik-Głaska M, Bernaciak J, Szczałuba K, Bekiesińska-Figatowska M, Płoski R, Bal J, Olimpia Rzońca-Niewczas S.
    J Mother Child; 2021 Apr 30; 24(3):32-36. PubMed ID: 33930262
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  • 11. MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
    Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N.
    Am J Med Genet A; 2017 May 30; 173(5):1264-1269. PubMed ID: 28371282
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  • 12. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
    Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A.
    Eur J Hum Genet; 2013 Oct 30; 21(10):1100-4. PubMed ID: 23403903
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  • 18. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
    Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.
    Genet Med; 2019 Dec 30; 21(12):2713-2722. PubMed ID: 31155615
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  • 20. MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain.
    Hamada N, Iwamoto I, Nagata KI.
    J Neurochem; 2023 May 30; 165(3):334-347. PubMed ID: 36798993
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