170 related articles for article (PubMed ID: 36816984)
1. Opportunities for ABA intervention in Phelan-McDermid syndrome.
Schroeder KA; Witts BN; Traub MR
Int J Dev Disabil; 2022; 68(6):984-989. PubMed ID: 36816984
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.
Hao Y; Liu Y; Yang J; Li X; Luo F; Geng Q; Li S; Li P; Wu W; Xie J
Front Genet; 2022; 13():961196. PubMed ID: 36118903
[No Abstract] [Full Text] [Related]
4. 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]
5. Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.
Goodspeed K; Bliss G; Linnehan D
Orphanet J Rare Dis; 2020 Jun; 15(1):152. PubMed ID: 32546186
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
Smith MS; Sarasua SM; Rogers C; Phelan K; Boccuto L
Clin Genet; 2023 Oct; 104(4):472-478. PubMed ID: 37232218
[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. 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]
10. 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]
11. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.
Kolevzon A; Angarita B; Bush L; Wang AT; Frank Y; Yang A; Rapaport R; Saland J; Srivastava S; Farrell C; Edelmann LJ; Buxbaum JD
J Neurodev Disord; 2014; 6(1):39. PubMed ID: 25784960
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J; García-Miñaúr S; Palomares-Bralo M; Vallespín E; Guillén-Navarro E; Rosell J; Bel-Fenellós C; Mori MÁ; Milá M; Del Campo M; Barrúz P; Santos-Simarro F; Obregón G; Orellana C; Pachajoa H; Tenorio JA; Galán E; Cigudosa JC; Moresco A; Saleme C; Castillo S; Gabau E; Pérez-Jurado L; Barcia A; Martín MS; Mansilla E; Vallcorba I; García-Murillo P; Cammarata-Scalisi F; Gonçalves Pereira N; Blanco-Lago R; Serrano M; Ortigoza-Escobar JD; Gener B; Seidel VA; Tirado P; Lapunzina P;
Front Genet; 2022; 13():652454. PubMed ID: 35495150
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Consensus recommendations on lymphedema in Phelan-McDermid syndrome.
Damstra RJ; Vignes S; ; Mansour S
Eur J Med Genet; 2023 Jun; 66(6):104767. PubMed ID: 37075886
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Understanding Behavior in Phelan-McDermid Syndrome.
Landlust AM; Visser L; Flapper BCT; Ruiter SAJ; Zwanenburg RJ; van Ravenswaaij-Arts CMA; van Balkom IDC
Front Psychiatry; 2022; 13():836807. PubMed ID: 35693963
[TBL] [Abstract][Full Text] [Related]
19. Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.
McCoy MD; Sarasua SM; DeLuca JM; Davis S; Rogers RC; Phelan K; Boccuto L
Pediatr Nephrol; 2024 Mar; 39(3):749-760. PubMed ID: 37733098
[TBL] [Abstract][Full Text] [Related]
20. Phelan-McDermid and general anesthesia with different hypnotics.
Fayos T; Casañ M
Rev Esp Anestesiol Reanim (Engl Ed); 2022 Nov; 69(9):587-591. PubMed ID: 36257878
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]