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165 related items for PubMed ID: 29159987

  • 1. MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
    Gordon CT, Chopra M, Oufadem M, Alibeu O, Bras M, Boddaert N, Bole-Feysot C, Nitschké P, Abadie V, Lyonnet S, Amiel J.
    Am J Med Genet A; 2018 Jan; 176(1):181-186. PubMed ID: 29159987
    [Abstract] [Full Text] [Related]

  • 2. 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; 35(11):1311-20. PubMed ID: 25137640
    [Abstract] [Full Text] [Related]

  • 3. 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; 21(10):1100-4. PubMed ID: 23403903
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 04; 19(2):93-103. PubMed ID: 29511999
    [Abstract] [Full Text] [Related]

  • 7. BMPR1B mutation causes Pierre Robin sequence.
    Yang Y, Yuan J, Yao X, Zhang R, Yang H, Zhao R, Guo J, Jin K, Mei H, Luo Y, Zhao L, Tu M, Zhu Y.
    Oncotarget; 2017 Apr 18; 8(16):25864-25871. PubMed ID: 28418932
    [Abstract] [Full Text] [Related]

  • 8. 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 18; 23(10):1308-17. PubMed ID: 25758992
    [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
    [Abstract] [Full Text] [Related]

  • 10. 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 30; 62(2):129-136. PubMed ID: 29959045
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 30; 60(9):451-464. PubMed ID: 28645799
    [Abstract] [Full Text] [Related]

  • 13. 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 30; 80(6):809-815. PubMed ID: 27500536
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Pierre Robin sequence: a series of 117 consecutive cases.
    Holder-Espinasse M, Abadie V, Cormier-Daire V, Beyler C, Manach Y, Munnich A, Lyonnet S, Couly G, Amiel J.
    J Pediatr; 2001 Oct 09; 139(4):588-90. PubMed ID: 11598609
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
    Sleiman PMA, March M, Nguyen K, Tian L, Pellegrino R, Hou C, Dridi W, Sager M, Housawi YH, Hakonarson H.
    Hum Mutat; 2017 May 29; 38(5):507-510. PubMed ID: 28150392
    [Abstract] [Full Text] [Related]

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