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22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay.
Cusmano-Ozog K, Manning MA, Hoyme HE. Cusmano-Ozog K, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):393-8. doi: 10.1002/ajmg.c.30155. Am J Med Genet C Semin Med Genet. 2007. PMID: 17926345 Review.
The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic facies. ...The distal 22q deletion can b …
The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypot …
Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome.
Ishikawa N, Kobayashi Y, Fujii Y, Yamamoto T, Kobayashi M. Ishikawa N, et al. Brain Dev. 2016 Jan;38(1):109-12. doi: 10.1016/j.braindev.2015.06.002. Epub 2015 Jun 17. Brain Dev. 2016. PMID: 26094094 Review.
Seizures occur in up to one-third of patients with 22q13.3 deletion syndrome; however, only a few reports have provided details regarding the seizure manifestations. ...To the best of our knowledge, this is the first confirmed case of late-onset ES occ …
Seizures occur in up to one-third of patients with 22q13.3 deletion syndrome; however, only a few reports have p …
Phelan-McDermid Syndrome.
Phelan K, Rogers RC, Boccuto L. Phelan K, et al. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301377 Free Books & Documents. Review.
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).
Phelan K, McDermid HE. Phelan K, et al. Mol Syndromol. 2012 Apr;2(3-5):186-201. doi: 10.1159/000334260. Epub 2011 Nov 22. Mol Syndromol. 2012. PMID: 22670140 Free PMC article.
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. ...The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, f …
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting f …
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. Zwanenburg RJ, et al. J Neurodev Disord. 2016 Apr 26;8:16. doi: 10.1186/s11689-016-9150-0. eCollection 2016. J Neurodev Disord. 2016. PMID: 27118998 Free PMC article.
BACKGROUND: Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental delay, cognitive deficits, and behaviour in the autism spectrum. ...
BACKGROUND: Phelan-McDermid syndrome (PMS) or 22q13.3 deletion syndrome is characterized by global developmental …
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Review.
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. Dhar SU, et al. Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253. Am J Med Genet A. 2010. PMID: 20186804 Free PMC article.
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. ...There are very few reports on array comparative genomic hybridization analysis on patients with the 22q13.3 deletion syndrome …
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. ...There are ve …
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
Breen MS, Fan X, Levy T, Pollak RM, Collins B, Osman A, Tocheva AS, Sahin M, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Kolevzon A, Buxbaum JD; Developmental Synaptopathies Consortium. Breen MS, et al. HGG Adv. 2022 Sep 26;4(1):100145. doi: 10.1016/j.xhgg.2022.100145. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36276299 Free PMC article.
230 results