BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 33961779)

  • 1. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
    Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Hančárová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; Funari T; Giannuzzi G; Gruber-Sedlmayr U; Guex N; Heron D; Holla ØL; Hurst ACE; Juusola J; Kronn D; Lavrov A; Lee C; Lorrain S; Merckoll E; Mikhaleva A; Norman J; Pradervand S; Prchalová D; Rhodes L; Sanders VR; Sedláček Z; Seebacher HA; Sellars EA; Sirchia F; Takenouchi T; Tanaka AJ; Taska-Tench H; Tønne E; Tveten K; Vitiello G; Vlčková M; Uehara T; Nava C; Yalcin B; Kosaki K; Donnai D; Mundlos S; Brunetti-Pierri N; Chung WK; Reymond A
    Am J Hum Genet; 2021 May; 108(5):857-873. PubMed ID: 33961779
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
    Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Abou Jamra R; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Smeland MF; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; Potocki L; Flores-Gallegos L; Morales-Toquero R; Petit F; Yalcin B; Tuttle A; Elloumi HZ; McCormick L; Kukolich M; Klaas O; Horvath J; Scala M; Iacomino M; Operto F; Zara F; Writzl K; Maver A; Haanpää MK; Pohjola P; Arikka H; Kievit AJA; Calandrini C; Iseli C; Guex N; Reymond A
    Genome Med; 2024 May; 16(1):72. PubMed ID: 38811945
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
    Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Jamra RA; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Falkenberg Smeland M; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; Potocki L; Flores-Gallegos L; Morales-Toquero R; Petit F; Yalcin B; Tuttle A; Elloumi HZ; Mccormick L; Kukolich M; Klaas O; Horvath J; Scala M; Iacomino M; Operto F; Zara F; Writzl K; Maver A; Haanpää MK; Pohjola P; Arikka H; Iseli C; Guex N; Reymond A
    medRxiv; 2024 Jan; ():. PubMed ID: 38293053
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
    Inoue Y; Tsuchida N; Okamoto N; Shuichi S; Ohashi K; Saitoh S; Ogawa A; Hamada K; Sakamoto M; Miyake N; Hamanaka K; Fujita A; Koshimizu E; Miyatake S; Mizuguchi T; Ogata K; Uchiyama Y; Matsumoto N
    Clin Genet; 2023 May; 103(5):590-595. PubMed ID: 36576140
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
    Reis LM; Sorokina EA; Thompson S; Muheisen S; Velinov M; Zamora C; Aylsworth AS; Semina EV
    Am J Hum Genet; 2019 Aug; 105(2):425-433. PubMed ID: 31327510
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
    Chung HL; Mao X; Wang H; Park YJ; Marcogliese PC; Rosenfeld JA; Burrage LC; Liu P; Murdock DR; Yamamoto S; Wangler MF; ; Chao HT; Long H; Feng L; Bacino CA; Bellen HJ; Xiao B
    Am J Hum Genet; 2020 May; 106(5):717-725. PubMed ID: 32330417
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
    Flöttmann R; Wagner J; Kobus K; Curry CJ; Savarirayan R; Nishimura G; Yasui N; Spranger J; Van Esch H; Lyons MJ; DuPont BR; Dwivedi A; Klopocki E; Horn D; Mundlos S; Spielmann M
    J Med Genet; 2015 Jul; 52(7):476-83. PubMed ID: 26032025
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
    Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
    Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.
    Shimizu D; Sakamoto R; Yamoto K; Saitsu H; Fukami M; Nishimura G; Ogata T
    J Hum Genet; 2019 Oct; 64(10):1041-1044. PubMed ID: 31388108
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
    Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C
    J Med Genet; 2016 Dec; 53(12):820-827. PubMed ID: 27439707
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
    Steichen-Gersdorf E; Gassner I; Superti-Furga A; Ullmann R; Stricker S; Klopocki E; Mundlos S
    Clin Genet; 2008 Dec; 74(6):560-5. PubMed ID: 18616733
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
    Cogné B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjöld M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla ØL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk ØL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Coban Akdemir ZH; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; ; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denommé-Pichon AS; ; Férec C; Yang XJ; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bézieau S; Küry S; Campeau PM
    Am J Hum Genet; 2019 Mar; 104(3):530-541. PubMed ID: 30827496
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
    Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
    Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Structure of the super-elongation complex subunit AFF4 C-terminal homology domain reveals requirements for AFF homo- and heterodimerization.
    Chen Y; Cramer P
    J Biol Chem; 2019 Jul; 294(27):10663-10673. PubMed ID: 31147444
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
    Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
    Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
    Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C; van Bokhoven H; Kleefstra T; Kahrizi K; Najmabadi H; Ropers HH; Delgado MR; Sirsi D; Golla S; Sommer A; Pietryga MP; Chung WK; Wynn J; Rohena L; Bernardo E; Hamlin D; Faux BM; Grange DK; Manwaring L; Tolmie J; Joss S; ; Cobben JM; Duijkers FAM; Goehringer JM; Challman TD; Hennig F; Fischer U; Grimme A; Suckow V; Musante L; Nicholl J; Shaw M; Lodh SP; Niu Z; Rosenfeld JA; Stankiewicz P; Jentsch TJ; Gecz J; Field M; Kalscheuer VM
    Mol Psychiatry; 2018 Feb; 23(2):222-230. PubMed ID: 27550844
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
    Hay E; Henderson RH; Mansour S; Deshpande C; Jones R; Nutan S; Mankad K; Young RM; Moosajee M; Research Consortium GE; Arno G
    Clin Genet; 2020 Aug; 98(2):191-197. PubMed ID: 32530092
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
    Jackson A; Banka S; Stewart H; ; Robinson H; Lovell S; Clayton-Smith J
    Am J Med Genet A; 2021 Oct; 185(10):3083-3091. PubMed ID: 34061450
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.