BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

294 related articles for article (PubMed ID: 23332918)

  • 21. AUTS2 Syndrome: Molecular Mechanisms and Model Systems.
    Biel A; Castanza AS; Rutherford R; Fair SR; Chifamba L; Wester JC; Hester ME; Hevner RF
    Front Mol Neurosci; 2022; 15():858582. PubMed ID: 35431798
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
    Schuurs-Hoeijmakers JH; Oh EC; Vissers LE; Swinkels ME; Gilissen C; Willemsen MA; Holvoet M; Steehouwer M; Veltman JA; de Vries BB; van Bokhoven H; de Brouwer AP; Katsanis N; Devriendt K; Brunner HG
    Am J Hum Genet; 2012 Dec; 91(6):1122-7. PubMed ID: 23159249
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Function and regulation of AUTS2, a gene implicated in autism and human evolution.
    Oksenberg N; Stevison L; Wall JD; Ahituv N
    PLoS Genet; 2013; 9(1):e1003221. PubMed ID: 23349641
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.
    Gauld C; Poisson A; Reversat J; Peyroux E; Houdayer-Robert F; Rossi M; Lesca G; Sanlaville D; Demily C
    BMC Psychiatry; 2021 Jul; 21(1):360. PubMed ID: 34273950
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A Mouse Mutation That Dysregulates Neighboring
    Weisner PA; Chen CY; Sun Y; Yoo J; Kao WC; Zhang H; Baltz ET; Troy JM; Stubbs L
    G3 (Bethesda); 2019 Nov; 9(11):3891-3906. PubMed ID: 31554716
    [No Abstract]   [Full Text] [Related]  

  • 27. Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
    Luco SM; Pohl D; Sell E; Wagner JD; Dyment DA; Daoud H
    BMC Med Genet; 2016 Feb; 17():15. PubMed ID: 26922654
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
    Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
    Schaaf CP; Boone PM; Sampath S; Williams C; Bader PI; Mueller JM; Shchelochkov OA; Brown CW; Crawford HP; Phalen JA; Tartaglia NR; Evans P; Campbell WM; Tsai AC; Parsley L; Grayson SW; Scheuerle A; Luzzi CD; Thomas SK; Eng PA; Kang SH; Patel A; Stankiewicz P; Cheung SW
    Eur J Hum Genet; 2012 Dec; 20(12):1240-7. PubMed ID: 22617343
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Cerebral organoids containing an AUTS2 missense variant model microcephaly.
    Fair SR; Schwind W; Julian DL; Biel A; Guo G; Rutherford R; Ramadesikan S; Westfall J; Miller KE; Kararoudi MN; Hickey SE; Mosher TM; McBride KL; Neinast R; Fitch J; Lee DA; White P; Wilson RK; Bedrosian TA; Koboldt DC; Hester ME
    Brain; 2023 Jan; 146(1):387-404. PubMed ID: 35802027
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Investigation of NRXN1 deletions: clinical and molecular characterization.
    Dabell MP; Rosenfeld JA; Bader P; Escobar LF; El-Khechen D; Vallee SE; Dinulos MB; Curry C; Fisher J; Tervo R; Hannibal MC; Siefkas K; Wyatt PR; Hughes L; Smith R; Ellingwood S; Lacassie Y; Stroud T; Farrell SA; Sanchez-Lara PA; Randolph LM; Niyazov D; Stevens CA; Schoonveld C; Skidmore D; MacKay S; Miles JH; Moodley M; Huillet A; Neill NJ; Ellison JW; Ballif BC; Shaffer LG
    Am J Med Genet A; 2013 Apr; 161A(4):717-31. PubMed ID: 23495017
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
    Dukes-Rimsky L; Guzauskas GF; Holden KR; Griggs R; Ladd S; Montoya Mdel C; DuPont BR; Srivastava AK
    Am J Med Genet A; 2011 Sep; 155A(9):2146-53. PubMed ID: 21834054
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
    O'Rawe JA; Wu Y; Dörfel MJ; Rope AF; Au PY; Parboosingh JS; Moon S; Kousi M; Kosma K; Smith CS; Tzetis M; Schuette JL; Hufnagel RB; Prada CE; Martinez F; Orellana C; Crain J; Caro-Llopis A; Oltra S; Monfort S; Jiménez-Barrón LT; Swensen J; Ellingwood S; Smith R; Fang H; Ospina S; Stegmann S; Den Hollander N; Mittelman D; Highnam G; Robison R; Yang E; Faivre L; Roubertie A; Rivière JB; Monaghan KG; Wang K; Davis EE; Katsanis N; Kalscheuer VM; Wang EH; Metcalfe K; Kleefstra T; Innes AM; Kitsiou-Tzeli S; Rosello M; Keegan CE; Lyon GJ
    Am J Hum Genet; 2015 Dec; 97(6):922-32. PubMed ID: 26637982
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
    Lindstrand A; Frangakis S; Carvalho CM; Richardson EB; McFadden KA; Willer JR; Pehlivan D; Liu P; Pediaditakis IL; Sabo A; Lewis RA; Banin E; Lupski JR; Davis EE; Katsanis N
    Am J Hum Genet; 2016 Aug; 99(2):318-36. PubMed ID: 27486776
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
    Bronicki LM; Redin C; Drunat S; Piton A; Lyons M; Passemard S; Baumann C; Faivre L; Thevenon J; Rivière JB; Isidor B; Gan G; Francannet C; Willems M; Gunel M; Jones JR; Gleeson JG; Mandel JL; Stevenson RE; Friez MJ; Aylsworth AS
    Eur J Hum Genet; 2015 Nov; 23(11):1482-7. PubMed ID: 25920557
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
    Lionel AC; Tammimies K; Vaags AK; Rosenfeld JA; Ahn JW; Merico D; Noor A; Runke CK; Pillalamarri VK; Carter MT; Gazzellone MJ; Thiruvahindrapuram B; Fagerberg C; Laulund LW; Pellecchia G; Lamoureux S; Deshpande C; Clayton-Smith J; White AC; Leather S; Trounce J; Melanie Bedford H; Hatchwell E; Eis PS; Yuen RK; Walker S; Uddin M; Geraghty MT; Nikkel SM; Tomiak EM; Fernandez BA; Soreni N; Crosbie J; Arnold PD; Schachar RJ; Roberts W; Paterson AD; So J; Szatmari P; Chrysler C; Woodbury-Smith M; Brian Lowry R; Zwaigenbaum L; Mandyam D; Wei J; Macdonald JR; Howe JL; Nalpathamkalam T; Wang Z; Tolson D; Cobb DS; Wilks TM; Sorensen MJ; Bader PI; An Y; Wu BL; Musumeci SA; Romano C; Postorivo D; Nardone AM; Monica MD; Scarano G; Zoccante L; Novara F; Zuffardi O; Ciccone R; Antona V; Carella M; Zelante L; Cavalli P; Poggiani C; Cavallari U; Argiropoulos B; Chernos J; Brasch-Andersen C; Speevak M; Fichera M; Ogilvie CM; Shen Y; Hodge JC; Talkowski ME; Stavropoulos DJ; Marshall CR; Scherer SW
    Hum Mol Genet; 2014 May; 23(10):2752-68. PubMed ID: 24381304
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.
    Wallis MJ; Boys A; Tassano E; Delatycki MB
    Eur J Med Genet; 2020 Jan; 63(1):103618. PubMed ID: 30684669
    [TBL] [Abstract][Full Text] [Related]  

  • 40. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
    Ballif BC; Rosenfeld JA; Traylor R; Theisen A; Bader PI; Ladda RL; Sell SL; Steinraths M; Surti U; McGuire M; Williams S; Farrell SA; Filiano J; Schnur RE; Coffey LB; Tervo RC; Stroud T; Marble M; Netzloff M; Hanson K; Aylsworth AS; Bamforth JS; Babu D; Niyazov DM; Ravnan JB; Schultz RA; Lamb AN; Torchia BS; Bejjani BA; Shaffer LG
    Hum Genet; 2012 Jan; 131(1):145-56. PubMed ID: 21800092
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.