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 *

246 related articles for article (PubMed ID: 30396833)

  • 1. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
    Srivastava S; Scherrer B; Prohl AK; Filip-Dhima R; Kapur K; Kolevzon A; Buxbaum JD; Berry-Kravis E; Soorya L; Thurm A; Powell CM; Bernstein JA; Warfield SK; Sahin M;
    Pediatr Neurol; 2019 Jan; 90():37-43. PubMed ID: 30396833
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
    Bassell J; Srivastava S; Prohl AK; Scherrer B; Kapur K; Filip-Dhima R; Berry-Kravis E; Soorya L; Thurm A; Powell CM; Bernstein JA; Buxbaum JD; Kolevzon A; Warfield SK; Sahin M;
    Pediatr Neurol; 2020 May; 106():24-31. PubMed ID: 32107139
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by
    De Rubeis S; Siper PM; Durkin A; Weissman J; Muratet F; Halpern D; Trelles MDP; Frank Y; Lozano R; Wang AT; Holder JL; Betancur C; Buxbaum JD; Kolevzon A
    Mol Autism; 2018; 9():31. PubMed ID: 29719671
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
    Schenkel LC; Aref-Eshghi E; Rooney K; Kerkhof J; Levy MA; McConkey H; Rogers RC; Phelan K; Sarasua SM; Jain L; Pauly R; Boccuto L; DuPont B; Cappuccio G; Brunetti-Pierri N; Schwartz CE; Sadikovic B
    Clin Epigenetics; 2021 Jan; 13(1):2. PubMed ID: 33407854
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
    Xu N; Lv H; Yang T; Du X; Sun Y; Xiao B; Fan Y; Luo X; Zhan Y; Wang L; Li F; Yu Y
    Orphanet J Rare Dis; 2020 Nov; 15(1):335. PubMed ID: 33256793
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.
    Lei D; Li S; Banerjee S; Zhang H; Li C; Hou S; Chen D; Yan H; Li H; Peng HH; Liu S; Zhang X; Peng Z; Wang J; Yang H; Huang H; Wu J
    Oncotarget; 2016 Dec; 7(49):80327-80335. PubMed ID: 27741506
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
    de Coo IFM; Jesse S; Le TL; Sala C;
    Eur J Med Genet; 2023 Jun; 66(6):104746. PubMed ID: 36967043
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
    Vitrac A; Leblond CS; Rolland T; Cliquet F; Mathieu A; Maruani A; Delorme R; Schön M; Grabrucker AM; van Ravenswaaij-Arts C; Phelan K; Tabet AC; Bourgeron T
    Eur J Med Genet; 2023 May; 66(5):104732. PubMed ID: 36822569
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.
    Li S; Xi KW; Liu T; Zhang Y; Zhang M; Zeng LD; Li J
    BMC Med Genomics; 2020 Oct; 13(1):146. PubMed ID: 33023580
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
    Aldinger KA; Kogan J; Kimonis V; Fernandez B; Horn D; Klopocki E; Chung B; Toutain A; Weksberg R; Millen KJ; Barkovich AJ; Dobyns WB
    Am J Med Genet A; 2013 Jan; 161A(1):131-6. PubMed ID: 23225497
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.
    Simenson K; Õiglane-Shlik E; Teek R; Kuuse K; Õunap K
    Am J Med Genet A; 2014 Mar; 164A(3):806-9. PubMed ID: 24375995
    [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. Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.
    Mingbunjerdsuk D; Wong M; Bozarth X; Sun A
    J Child Neurol; 2021 Feb; 36(2):148-151. PubMed ID: 32991243
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Deletion syndrome 22q13: what the dentist should know to manage children with Phelan-McDermid syndrome effectively.
    Ivanoff C; Ivanoff AE
    J Tenn Dent Assoc; 2014; 94(1):15-8; quiz 19-20. PubMed ID: 25241497
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.