BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 29046268)

  • 1. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.
    Ajayi OJ; Smith EJ; Viangteeravat T; Huang EY; Nagisetty NSVR; Urraca N; Lusk L; Finucane B; Arkilo D; Young J; Jeste S; Thibert R; ; Reiter LT
    JMIR Res Protoc; 2017 Oct; 6(10):e194. PubMed ID: 29046268
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.
    Rogers-Hammond R; Howell C
    Ther Adv Rare Dis; 2024; 5():26330040241234932. PubMed ID: 38450288
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.
    Potter SN; Reynolds E; Okoniewski KC; Edwards A; Gable J; Hill C; Bakalov V; Zentz S; Whiting C; Cheves E; Garbarini K; Jalazo E; Howell C; Moore A; Wheeler A
    Ther Adv Rare Dis; 2024; 5():26330040241254122. PubMed ID: 38808315
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A survey of seizures and current treatments in 15q duplication syndrome.
    Conant KD; Finucane B; Cleary N; Martin A; Muss C; Delany M; Murphy EK; Rabe O; Luchsinger K; Spence SJ; Schanen C; Devinsky O; Cook EH; LaSalle J; Reiter LT; Thibert RL
    Epilepsia; 2014 Mar; 55(3):396-402. PubMed ID: 24502430
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism.
    Fink JJ; Schreiner JD; Bloom JE; James J; Baker DS; Robinson TM; Lieberman R; Loew LM; Chamberlain SJ; Levine ES
    Biol Psychiatry; 2021 Dec; 90(11):756-765. PubMed ID: 34538422
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.
    Germain ND; Chen PF; Plocik AM; Glatt-Deeley H; Brown J; Fink JJ; Bolduc KA; Robinson TM; Levine ES; Reiter LT; Graveley BR; Lalande M; Chamberlain SJ
    Mol Autism; 2014; 5():44. PubMed ID: 25694803
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome.
    DiStefano C; Gulsrud A; Huberty S; Kasari C; Cook E; Reiter LT; Thibert R; Jeste SS
    J Neurodev Disord; 2016; 8():19. PubMed ID: 27158270
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.
    Frohlich J; Senturk D; Saravanapandian V; Golshani P; Reiter LT; Sankar R; Thibert RL; DiStefano C; Huberty S; Cook EH; Jeste SS
    PLoS One; 2016; 11(12):e0167179. PubMed ID: 27977700
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Properties of beta oscillations in Dup15q syndrome.
    Saravanapandian V; Frohlich J; Hipp JF; Hyde C; Scheffler AW; Golshani P; Cook EH; Reiter LT; Senturk D; Jeste SS
    J Neurodev Disord; 2020 Aug; 12(1):22. PubMed ID: 32791992
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11-q13 duplication syndrome.
    Elamin M; Lemtiri-Chlieh F; Robinson TM; Levine ES
    Epilepsia; 2023 Sep; 64(9):2515-2527. PubMed ID: 37329181
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.
    Saravanapandian V; Nadkarni D; Hsu SH; Hussain SA; Maski K; Golshani P; Colwell CS; Balasubramanian S; Dixon A; Geschwind DH; Jeste SS
    Mol Autism; 2021 Aug; 12(1):54. PubMed ID: 34344470
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Measurement of Sleep Behaviors in Chromosome 15q11.2-13.1 Duplication (Dup15q Syndrome).
    Barstein J; Jeste S; Saravanapandian V; Hyde C; Distefano C
    Am J Intellect Dev Disabil; 2021 Nov; 126(6):505-510. PubMed ID: 34700346
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gastrointestinal problems in 15q duplication syndrome.
    Shaaya EA; Pollack SF; Boronat S; Davis-Cooper S; Zella GC; Thibert RL
    Eur J Med Genet; 2015 Mar; 58(3):191-3. PubMed ID: 25573720
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mechanisms underlying the EEG biomarker in Dup15q syndrome.
    Frohlich J; Reiter LT; Saravanapandian V; DiStefano C; Huberty S; Hyde C; Chamberlain S; Bearden CE; Golshani P; Irimia A; Olsen RW; Hipp JF; Jeste SS
    Mol Autism; 2019; 10():29. PubMed ID: 31312421
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain.
    Dias C; Mo A; Cai C; Sun L; Cabral K; Brownstein CA; Rockowitz S; Walsh CA
    bioRxiv; 2024 May; ():. PubMed ID: 38826276
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.
    Ortiz-Prado E; Iturralde AL; Simbaña-Rivera K; Gómez-Barreno L; Hidalgo I; Rubio-Neira M; Espinosa N; Izquierdo-Condoy J; Arteaga-Espinosa ME; Lister A; López-Cortés A; Cabrera-Andrade A
    Case Rep Med; 2021; 2021():6662054. PubMed ID: 34007283
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic dissection identifies Necdin as a driver gene in a mouse model of paternal 15q duplications.
    Tamada K; Fukumoto K; Toya T; Nakai N; Awasthi JR; Tanaka S; Okabe S; Spitz F; Saitow F; Suzuki H; Takumi T
    Nat Commun; 2021 Jul; 12(1):4056. PubMed ID: 34210967
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Single cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.
    Perez Y; Velmeshev D; Wang L; White M; Siebert C; Baltazar J; Dutton NG; Wang S; Haeussler M; Chamberlain S; Kriegstein A
    bioRxiv; 2023 Sep; ():. PubMed ID: 37790331
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q).
    Arkilo D; Devinsky O; Mudigoudar B; Boronat S; Jennesson M; Sassower K; Vaou OE; Lerner JT; Jeste SS; Luchsinger K; Thibert R
    Epilepsy Behav; 2016 Apr; 57(Pt A):133-136. PubMed ID: 26949155
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The Linkage Between Autism Spectrum Disorder and Dup15q Syndrome: A Case Report.
    Shehi E; Shah H; Singh A; Pampana VS; Kaur G
    Cureus; 2022 Apr; 14(4):e24205. PubMed ID: 35592194
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.