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Journal Abstract Search

1205 related items for PubMed ID: 28645799

  • 1. 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; 60(9):451-464. PubMed ID: 28645799
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  • 2. 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; 23(11):1499-504. PubMed ID: 25712080
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  • 4. 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. 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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  • 6. 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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  • 7. 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 09; 23(1):135-8. PubMed ID: 24781760
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  • 8. Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
    Utami KH, Winata CL, Hillmer AM, Aksoy I, Long HT, Liany H, Chew EG, Mathavan S, Tay SK, Korzh V, Sarda P, Davila S, Cacheux V.
    Hum Mutat; 2014 Nov 09; 35(11):1311-20. PubMed ID: 25137640
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  • 9. 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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  • 10. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T, Karaca E, Ozkinay E, Cogulu O.
    Genet Couns; 2015 Mar 03; 26(4):431-5. PubMed ID: 26852514
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  • 11. 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 03; 80(6):809-815. PubMed ID: 27500536
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  • 12. 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 03; 173(5):1264-1269. PubMed ID: 28371282
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  • 13. 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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  • 14. Redefining the MED13L syndrome.
    Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.
    Eur J Hum Genet; 2015 Oct 04; 23(10):1308-17. PubMed ID: 25758992
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  • 15. 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 04; 9(11):e112687. PubMed ID: 25405613
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  • 16. 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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  • 19. Clinical and molecular spectrum of CHOPS syndrome.
    Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K.
    Am J Med Genet A; 2019 Jul 30; 179(7):1126-1138. PubMed ID: 31058441
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