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Journal Abstract Search

165 related items for PubMed ID: 34654706

  • 1. 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; 8(1):. PubMed ID: 34654706
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  • 2. 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; 19(2):93-103. PubMed ID: 29511999
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  • 3. 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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  • 5. 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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  • 6. 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 09; 21(10):1100-4. PubMed ID: 23403903
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  • 7. 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 09; 173(5):1264-1269. PubMed ID: 28371282
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  • 8. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
    Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F.
    Pediatr Res; 2016 Dec 09; 80(6):809-815. PubMed ID: 27500536
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  • 9. 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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  • 10. 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 09; 65(12):1049-1057. PubMed ID: 34713510
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  • 11. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
    Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF, Deciphering Developmental Disorders StudyDeciphering Developmental Disorders Study, Wellcome Sanger Institute, Cambridge CB10 1SA, UK., van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.
    Am J Hum Genet; 2019 Apr 04; 104(4):709-720. PubMed ID: 30905399
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  • 12. 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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  • 16. Further confirmation of the MED13L haploinsufficiency syndrome.
    van Haelst MM, Monroe GR, Duran K, van Binsbergen E, Breur JM, Giltay JC, van Haaften G.
    Eur J Hum Genet; 2015 Jan 30; 23(1):135-8. PubMed ID: 24781760
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  • 18. MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
    Su JX, Velsher LS, Juusola J, Nezarati MM.
    Am J Med Genet A; 2021 Jan 30; 185(1):300-303. PubMed ID: 33091211
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  • 19. 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. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
    Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L.
    J Med Genet; 2020 Dec 30; 57(12):808-819. PubMed ID: 32409512
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