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.
164 related articles for article (PubMed ID: 28018439)
1. Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms. Kim YM; Choi IH; Kim JS; Kim JH; Cho JH; Lee BH; Kim GH; Choi JH; Seo EJ; Yoo HW Korean J Pediatr; 2016 Nov; 59(Suppl 1):S25-S28. PubMed ID: 28018439 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3. Delahaye A; Toutain A; Aboura A; Dupont C; Tabet AC; Benzacken B; Elion J; Verloes A; Pipiras E; Drunat S Eur J Med Genet; 2009; 52(5):328-32. PubMed ID: 19454329 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder. Görker I; Gürkan H; Demir Ulusal S; Atlı E; Ikbal Atlı E Balkan J Med Genet; 2016 Dec; 19(2):85-90. PubMed ID: 28289594 [TBL] [Abstract][Full Text] [Related]
12. [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis]. Strenge S; Froster UG; Kujat A; Bernhard M; Merkenschlager A Klin Padiatr; 2008; 220(5):318-20. PubMed ID: 18814345 [TBL] [Abstract][Full Text] [Related]
13. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. Sarasua SM; Dwivedi A; Boccuto L; Chen CF; Sharp JL; Rollins JD; Collins JS; Rogers RC; Phelan K; DuPont BR Genet Med; 2014 Apr; 16(4):318-28. PubMed ID: 24136618 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report. Khalifa Y; Hassan HY; Weise A; Liehr T; Alkhayyat H Mol Cytogenet; 2022 Dec; 15(1):52. PubMed ID: 36528601 [TBL] [Abstract][Full Text] [Related]
17. Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. Zwanenburg RJ; Ruiter SA; van den Heuvel ER; Flapper BC; Van Ravenswaaij-Arts CM J Neurodev Disord; 2016; 8():16. PubMed ID: 27118998 [TBL] [Abstract][Full Text] [Related]
19. [The Phelan-McDermid syndrome (22q13 microdeletion) - case report]. Slezak R; Laczmańska I Med Wieku Rozwoj; 2011; 15(1):96-100. PubMed ID: 21786519 [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]