These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 31465867)

  • 1. A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome.
    Verhoeven WMA; Egger JIM; de Leeuw N
    Eur J Med Genet; 2020 Mar; 63(3):103751. PubMed ID: 31465867
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports.
    Serret S; Thümmler S; Dor E; Vesperini S; Santos A; Askenazy F
    BMC Psychiatry; 2015 May; 15():107. PubMed ID: 25947967
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy.
    Egger JI; Zwanenburg RJ; van Ravenswaaij-Arts CM; Kleefstra T; Verhoeven WM
    Genes Brain Behav; 2016 Apr; 15(4):395-404. PubMed ID: 26824576
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.
    Kohlenberg TM; Trelles MP; McLarney B; Betancur C; Thurm A; Kolevzon A
    J Neurodev Disord; 2020 Feb; 12(1):7. PubMed ID: 32050889
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phelan-McDermid syndrome due to
    Egger JIM; Verhoeven WMA; Groenendijk-Reijenga R; Kant SG
    BMJ Case Rep; 2017 Sep; 2017():. PubMed ID: 28963116
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
    Harony-Nicolas H; De Rubeis S; Kolevzon A; Buxbaum JD
    J Child Neurol; 2015 Dec; 30(14):1861-70. PubMed ID: 26350728
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phelan-McDermid syndrome: clinical report of a 70-year-old woman.
    Verhoeven WM; Egger JI; Cohen-Snuijf R; Kant SG; de Leeuw N
    Am J Med Genet A; 2013 Jan; 161A(1):158-61. PubMed ID: 23166010
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
    Samogy-Costa CI; Varella-Branco E; Monfardini F; Ferraz H; Fock RA; Barbosa RHA; Pessoa ALS; Perez ABA; Lourenço N; Vibranovski M; Krepischi A; Rosenberg C; Passos-Bueno MR
    J Neurodev Disord; 2019 Jul; 11(1):13. PubMed ID: 31319798
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation.
    Kankuri-Tammilehto M; Sauna-Aho O; Arvio M
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1780. PubMed ID: 34369668
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
    Kolevzon A; Delaby E; Berry-Kravis E; Buxbaum JD; Betancur C
    Mol Autism; 2019; 10():50. PubMed ID: 31879555
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gait Abnormalities in Children with Phelan-McDermid Syndrome.
    Frank Y; Levy T; Lozano R; Friedman K; Underwood S; Kostic A; Walker H; Kolevzon A
    J Child Neurol; 2023 Dec; 38(13-14):665-671. PubMed ID: 37849292
    [No Abstract]   [Full Text] [Related]  

  • 12. Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression-A Case Report.
    Jesse S; Delling JP; Schön M; Boeckers TM; Ludolph A; Senel M
    Int J Mol Sci; 2021 Feb; 22(5):. PubMed ID: 33669083
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
    Berg EL; Copping NA; Rivera JK; Pride MC; Careaga M; Bauman MD; Berman RF; Lein PJ; Harony-Nicolas H; Buxbaum JD; Ellegood J; Lerch JP; Wöhr M; Silverman JL
    Autism Res; 2018 Apr; 11(4):587-601. PubMed ID: 29377611
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the
    Drapeau E; Riad M; Kajiwara Y; Buxbaum JD
    eNeuro; 2018; 5(3):. PubMed ID: 30302388
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The emerging role of SHANK genes in neuropsychiatric disorders.
    Guilmatre A; Huguet G; Delorme R; Bourgeron T
    Dev Neurobiol; 2014 Feb; 74(2):113-22. PubMed ID: 24124131
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.
    Dyar B; Meaddough E; Sarasua SM; Rogers C; Phelan K; Boccuto L
    Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440366
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
    Sarasua SM; Dwivedi A; Boccuto L; Rollins JD; Chen CF; Rogers RC; Phelan K; DuPont BR; Collins JS
    J Med Genet; 2011 Nov; 48(11):761-6. PubMed ID: 21984749
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
    Schön M; Lapunzina P; Nevado J; Mattina T; Gunnarsson C; Hadzsiev K; Verpelli C; Bourgeron T; Jesse S; van Ravenswaaij-Arts CMA; ; Hennekam RC
    Eur J Med Genet; 2023 Jul; 66(7):104754. PubMed ID: 37003575
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
    Disciglio V; Lo Rizzo C; Mencarelli MA; Mucciolo M; Marozza A; Di Marco C; Massarelli A; Canocchi V; Baldassarri M; Ndoni E; Frullanti E; Amabile S; Anderlid BM; Metcalfe K; Le Caignec C; David A; Fryer A; Boute O; Joris A; Greco D; Pecile V; Battini R; Novelli A; Fichera M; Romano C; Mari F; Renieri A
    Am J Med Genet A; 2014 Jul; 164A(7):1666-76. PubMed ID: 24700646
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
    Levy T; Gluckman J; Siper PM; Halpern D; Zweifach J; Filip-Dhima R; Holder JL; Trelles MP; Johnson K; Bernstein JA; Berry-Kravis E; Powell CM; Soorya LV; Thurm A; Buxbaum JD; Sahin M; Kolevzon A; Srivastava S;
    J Neurodev Disord; 2024 May; 16(1):25. PubMed ID: 38730350
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.