283 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. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
Oberman LM; Boccuto L; Cascio L; Sarasua S; Kaufmann WE
Orphanet J Rare Dis; 2015 Aug; 10():105. PubMed ID: 26306707
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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. 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]
12. 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]
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. 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]
16. 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]
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. [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]
19. Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey.
Landlust AM; Koza SA; Carbin M; Walinga M; Robert S; Cooke J; Vyshka K; ; van Balkom IDC; van Ravenswaaij-Arts C
Eur J Med Genet; 2023 Jul; 66(7):104771. PubMed ID: 37120079
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
