Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1998 1
2000 2
2001 1
2002 1
2003 1
2004 3
2005 7
2006 2
2007 2
2008 6
2009 4
2010 4
2011 6
2012 7
2013 5
2014 7
2016 7
2017 4
2018 6
2019 3
2020 0
Text availability
Article attribute
Article type
Publication date

Search Results

71 results
Results by year
Filters applied: . Clear all
Page 1
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, Krawisz A, Froehlich W, Bernstein JA, Hallmayer JF, Dolmetsch RE. Shcheglovitov A, et al. Nature. 2013 Nov 14;503(7475):267-71. doi: 10.1038/nature12618. Epub 2013 Oct 16. Nature. 2013. PMID: 24132240 Free PMC article.
PMDS is caused by heterozygous deletions of chromosome 22q13.3. Among the genes in the deleted region is SHANK3, which encodes a protein in the postsynaptic density (PSD). ...
PMDS is caused by heterozygous deletions of chromosome 22q13.3. Among the genes in the deleted region is SHANK3, which encodes a prot …
22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.
Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F. Ponson L, et al. Transl Psychiatry. 2018 Aug 8;8(1):146. doi: 10.1038/s41398-018-0212-9. Transl Psychiatry. 2018. PMID: 30089781 Free PMC article.
Eighteen patients (8 males, mean age 12.7 years, SD = 9.2) with known 22q13 deletions were fully explored with determination of deletion size, along with behavioural, language and cognitive standardized assessments. ...Deletion size was significantly correlat …
Eighteen patients (8 males, mean age 12.7 years, SD = 9.2) with known 22q13 deletions were fully explored with determination of de
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).
Reierson G, Bernstein J, Froehlich-Santino W, Urban A, Purmann C, Berquist S, Jordan J, O'Hara R, Hallmayer J. Reierson G, et al. J Psychiatr Res. 2017 Aug;91:139-144. doi: 10.1016/j.jpsychires.2017.03.010. Epub 2017 Mar 16. J Psychiatr Res. 2017. PMID: 28346892 Free PMC article.
Deletion size was determined by DNA microarray. RESULTS: A history of regression at any age was present in 43% of all patients. ...Larger deletion sizes were found to be significantly associated with a history of abnormal EEG....
Deletion size was determined by DNA microarray. RESULTS: A history of regression at any age was present in 43% of all patients. ...La
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC. Kurtas N, et al. J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29. J Med Genet. 2018. PMID: 29378768 Free PMC article.
Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child with severe global neurodevelopmental delay (NDD) c …
Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced transloc …
22q13 deletion syndrome: an update and review for the primary pediatrician.
Havens JM, Visootsak J, Phelan MC, Graham JM Jr. Havens JM, et al. Clin Pediatr (Phila). 2004 Jan-Feb;43(1):43-53. doi: 10.1177/000992280404300106. Clin Pediatr (Phila). 2004. PMID: 14968892 Review.
One such emerging condition is the 22q13 deletion syndrome. With the introduction of subtelomeric fluorescence-in-situ hybridization (FISH) analysis, the 22q13 deletion has become recognized as a relatively widespread and underdiagnosed cause of mental …
One such emerging condition is the 22q13 deletion syndrome. With the introduction of subtelomeric fluorescence-in-situ hybridi …
Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.
Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K. Kiyota K, et al. Eur J Med Genet. 2018 Oct;61(10):631-633. doi: 10.1016/j.ejmg.2018.04.008. Epub 2018 Apr 17. Eur J Med Genet. 2018. PMID: 29673649
22q13 deletion syndrome is a genetic disorder caused by the deletion or disruption of the segment of the long arm of chromosome 22. ...We herein report a girl with 22q13 deletion syndrome complicated with multiple inflammatory and autoimmune dis
22q13 deletion syndrome is a genetic disorder caused by the deletion or disruption of the segment of the long arm of ch
22q13 deletion syndrome.
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. Phelan MC, et al. Am J Med Genet. 2001 Jun 15;101(2):91-9. doi: 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11391650
We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these individuals with 24 previously reported cases. ...In fact, 32% of the individuals in our study had previous chromosome analyses that failed to …
We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these in …
Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.
Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F. Ponson L, et al. Transl Psychiatry. 2019 Feb 28;9(1):101. doi: 10.1038/s41398-019-0435-4. Transl Psychiatry. 2019. PMID: 30814487 Free PMC article.
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Aldinger KA, et al. Am J Med Genet A. 2013 Jan;161A(1):131-6. doi: 10.1002/ajmg.a.35700. Epub 2012 Dec 7. Am J Med Genet A. 2013. PMID: 23225497 Free PMC article.
To determine whether developmental abnormalities of the cerebellum are a consistent feature of the 22q13.3 deletion syndrome, we examined brain-imaging studies for 10 unrelated subjects with 22q13 terminal deletion. ...Future studies of these genes may …
To determine whether developmental abnormalities of the cerebellum are a consistent feature of the 22q13.3 deletion syndrome, …
[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].
Luo J, Fang D, Qiu W, Xiao B, Fan Y, Ye J, Han L, Zhang H, Yu Y, Liang L, Gu X. Luo J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):361-365. doi: 10.3760/cma.j.issn.1003-9406.2018.03.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29896732 Chinese.
The diagnosis of 22q13 syndrome was established based on identification of a heterozygous microdeletion at chromosome 22q13.33 in both patients (69 kb and 587 kb, respectively) by the SNP array analysis. ...Quantitative real-time PCR verified that the deletion
The diagnosis of 22q13 syndrome was established based on identification of a heterozygous microdeletion at chromosome 22q13.33 …
71 results
Jump to page
Feedback