BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1169 related articles for article (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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 46(1):95. PubMed ID: 32646507
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 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; 23(1):135-8. PubMed ID: 24781760
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL
    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; 292(9):3866-3876. PubMed ID: 28057753
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T; Karaca E; Ozkinay E; Cogulu O
    Genet Couns; 2015; 26(4):431-5. PubMed ID: 26852514
    [TBL] [Abstract][Full Text] [Related]  

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

  • 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; 173(5):1264-1269. PubMed ID: 28371282
    [TBL] [Abstract][Full Text] [Related]  

  • 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; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM
    Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399
    [TBL] [Abstract][Full Text] [Related]  

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

  • 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; 9(11):e112687. PubMed ID: 25405613
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The
    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; 24(3):32-36. PubMed ID: 33930262
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
    Koemans TS; Kleefstra T; Chubak MC; Stone MH; Reijnders MRF; de Munnik S; Willemsen MH; Fenckova M; Stumpel CTRM; Bok LA; Sifuentes Saenz M; Byerly KA; Baughn LB; Stegmann APA; Pfundt R; Zhou H; van Bokhoven H; Schenck A; Kramer JM
    PLoS Genet; 2017 Oct; 13(10):e1006864. PubMed ID: 29069077
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Further delineation of the KAT6B molecular and phenotypic spectrum.
    Gannon T; Perveen R; Schlecht H; Ramsden S; Anderson B; Kerr B; Day R; Banka S; Suri M; Berland S; Gabbett M; Ma A; Lyonnet S; Cormier-Daire V; Yilmaz R; Borck G; Wieczorek D; Anderlid BM; Smithson S; Vogt J; Moore-Barton H; Simsek-Kiper PO; Maystadt I; Destrée A; Bucher J; Angle B; Mohammed S; Wakeling E; Price S; Singer A; Sznajer Y; Toutain A; Haye D; Newbury-Ecob R; Fradin M; McGaughran J; Tuysuz B; Tein M; Bouman K; Dabir T; Van den Ende J; Luk HM; Pilz DT; Eason J; Davies S; Reardon W; Garavelli L; Zuffardi O; Devriendt K; Armstrong R; Johnson D; Doco-Fenzy M; Bijlsma E; Unger S; Veenstra-Knol HE; Kohlhase J; Lo IF; ; Smith J; Clayton-Smith J
    Eur J Hum Genet; 2015 Sep; 23(9):1165-70. PubMed ID: 25424711
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 179(7):1126-1138. PubMed ID: 31058441
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 59.