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.
204 related articles for article (PubMed ID: 35328058)
1. Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management. Cammarata-Scalisi F; Callea M; Martinelli D; Willoughby CE; Tadich AC; Araya Castillo M; Lacruz-Rengel MA; Medina M; Grimaldi P; Bertini E; Nevado J Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328058 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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. Phelan-McDermid Syndrome and SHANK3: Implications for Treatment. Costales JL; Kolevzon A Neurotherapeutics; 2015 Jul; 12(3):620-30. PubMed ID: 25894671 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Advance of research on Phelan-McDermid syndrome]. Li S; Xi K; Liu T; Zhang Y; Li J Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):917-920. PubMed ID: 34487544 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
11. Phelan-McDermid syndrome: a classification system after 30 years of experience. Phelan K; Boccuto L; Powell CM; Boeckers TM; van Ravenswaaij-Arts C; Rogers RC; Sala C; Verpelli C; Thurm A; Bennett WE; Winrow CJ; Garrison SR; Toro R; Bourgeron T Orphanet J Rare Dis; 2022 Jan; 17(1):27. PubMed ID: 35093143 [TBL] [Abstract][Full Text] [Related]
12. A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome. Fastman J; Foss-Feig J; Frank Y; Halpern D; Harony-Nicolas H; Layton C; Sandin S; Siper P; Tang L; Trelles P; Zweifach J; Buxbaum JD; Kolevzon A Mol Autism; 2021 Sep; 12(1):62. PubMed ID: 34593045 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome. Walinga M; Jesse S; Alhambra N; ; Van Buggenhout G Eur J Med Genet; 2023 May; 66(5):104726. PubMed ID: 36796507 [TBL] [Abstract][Full Text] [Related]
15. Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry. Yin R; Wack M; Hassen-Khodja C; McDuffie MT; Bliss G; Horn EJ; Kothari C; McLarney B; Davis R; Hanson K; O'Boyle M; Betancur C; Avillach P Mol Autism; 2024 Sep; 15(1):40. PubMed ID: 39350236 [TBL] [Abstract][Full Text] [Related]
16. Sensory Reactivity Phenotype in Phelan-McDermid Syndrome Is Distinct from Idiopathic ASD. Tavassoli T; Layton C; Levy T; Rowe M; George-Jones J; Zweifach J; Lurie S; Buxbaum JD; Kolevzon A; Siper PM Genes (Basel); 2021 Jun; 12(7):. PubMed ID: 34206779 [TBL] [Abstract][Full Text] [Related]
17. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome. Mitz AR; Boccuto L; Thurm A Clin Genet; 2024 May; 105(5):459-469. PubMed ID: 38414139 [TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes. Ricciardello A; Tomaiuolo P; Persico AM Am J Med Genet A; 2021 Jul; 185(7):2211-2233. PubMed ID: 33949759 [TBL] [Abstract][Full Text] [Related]
19. Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome. Asta L; Ricciardello A; Cucinotta F; Turriziani L; Boncoddo M; Bellomo F; Angelini J; Gnazzo M; Scandolo G; Pisanò G; Pelagatti F; Chehbani F; Camia M; Persico AM J Neurodev Disord; 2024 Oct; 16(1):57. PubMed ID: 39363263 [TBL] [Abstract][Full Text] [Related]
20. [Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene]. I DV; Proskokova TN Zh Nevrol Psikhiatr Im S S Korsakova; 2023; 123(8):124-128. PubMed ID: 37655421 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]