173 related articles for article (PubMed ID: 38808315)
1. 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]
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. 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]
4. Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.
Urraca N; Hope K; Victor AK; Belgard TG; Memon R; Goorha S; Valdez C; Tran QT; Sanchez S; Ramirez J; Donaldson M; Bridges D; Reiter LT
Mol Autism; 2018; 9():6. PubMed ID: 29423132
[TBL] [Abstract][Full Text] [Related]
5. Age of diagnosis for children with chromosome 15q syndromes.
Wheeler AC; Gantz MG; Cope H; Strong TV; Bohonowych JE; Moore A; Vogel-Farley V
J Neurodev Disord; 2023 Nov; 15(1):37. PubMed ID: 37936142
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler DE; Ling L; Gamage D; Baker EK; Bui M; Field MJ; Rogers C; Butler MG; Murgia A; Leonardi E; Polli R; Schwartz CE; Skinner CD; Alliende AM; Santa Maria L; Pitt J; Greaves R; Francis D; Oertel R; Wang M; Simons C; Amor DJ
JAMA Netw Open; 2022 Jan; 5(1):e2141911. PubMed ID: 34982160
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.
Dangles MT; Malan V; Dumas G; Romana S; Raoul O; Coste-Zeitoun D; Soufflet C; Vignolo-Diard P; Bahi-Buisson N; Barnérias C; Chemaly N; Desguerre I; Gitiaux C; Hully M; Bourgeois M; Guimier A; Rio M; Munnich A; Nabbout R; Kaminska A; Eisermann M
Clin Neurophysiol; 2021 May; 132(5):1126-1137. PubMed ID: 33773177
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.
Wilson RB; Elashoff D; Gouelle A; Smith BA; Wilson AM; Dickinson A; Safari T; Hyde C; Jeste SS
Autism Res; 2020 Jul; 13(7):1102-1110. PubMed ID: 32282133
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?
Beghi E; Giussani G; Bianchi E; Randazzo G; Sarcona V; Elia M; Striano P; Verrotti A; Ferretti A; Rebessi E; Specchio N; Bonanni P
Seizure; 2020 Jan; 74():26-30. PubMed ID: 31805494
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
DiStefano C; Wilson RB; Hyde C; Cook EH; Thibert RL; Reiter LT; Vogel-Farley V; Hipp J; Jeste S
Am J Med Genet A; 2020 Jan; 182(1):71-84. PubMed ID: 31654560
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]