"Chromosome 15q13.3 microdeletion syndrome" AND Diagnosis/broad[filter] AND "english and humans"[filter] NOT comment[PTYP] NOT letter[PTYP] - Search Results

Year	Number of Results
2012	1
2013	5
2014	6
2015	1
2016	1
2017	1
2019	1
2020	2
2021	2
2022	1
2023	1
2024	0

1

Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.

Zhang S, Zhang X, Purmann C, Ma S, Shrestha A, Davis KN, Ho M, Huang Y, Pattni R, Wong WH, Bernstein JA, Hallmayer J, Urban AE. Zhang S, et al. Biol Psychiatry. 2021 Mar 1;89(5):497-509. doi: 10.1016/j.biopsych.2020.06.021. Epub 2020 Jul 1. Biol Psychiatry. 2021. PMID: 32919612 Free PMC article.

2

The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.

Whitney R, Nair A, McCready E, Keller AE, Adil IS, Aziz AS, Borys O, Siu K, Shah C, Meaney BF, Jones K, RamachandranNair R. Whitney R, et al. Seizure. 2021 Nov;92:221-229. doi: 10.1016/j.seizure.2021.09.016. Epub 2021 Sep 26. Seizure. 2021. PMID: 34601452 Free article.

3

Case reports of two siblings with autism spectrum disorder and 15q13.3 deletions.

Furukawa S, Kushima I, Aleksic B, Ozaki N. Furukawa S, et al. Neuropsychopharmacol Rep. 2023 Sep;43(3):462-466. doi: 10.1002/npr2.12340. Epub 2023 Jun 1. Neuropsychopharmacol Rep. 2023. PMID: 37264739 Free PMC article.

4

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Lowther C, et al. Genet Med. 2015 Feb;17(2):149-57. doi: 10.1038/gim.2014.83. Epub 2014 Jul 31. Genet Med. 2015. PMID: 25077648 Free PMC article. Review.

5

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.

Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I. Jähn JA, et al. Epilepsy Res. 2014 Jan;108(1):109-16. doi: 10.1016/j.eplepsyres.2013.10.001. Epub 2013 Oct 26. Epilepsy Res. 2014. PMID: 24246141

6

Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.

Prasun P, Hankerd M, Kristofice M, Scussel L, Sivaswamy L, Ebrahim S. Prasun P, et al. Am J Med Genet A. 2014 Jul;164A(7):1815-20. doi: 10.1002/ajmg.a.36535. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700535 Review.

7

Molecular, physiological and behavioral characterization of the heterozygous Df[h15q13]/+ mouse model associated with the human 15q13.3 microdeletion syndrome.

Rees KA, Halawa AA, Consuegra-Garcia D, Golub VM, Clossen BL, Tan AM, Montgomery KS, Samba Reddy D, Griffith WH, Winzer-Serhan UH. Rees KA, et al. Brain Res. 2020 Nov 1;1746:147024. doi: 10.1016/j.brainres.2020.147024. Epub 2020 Jul 23. Brain Res. 2020. PMID: 32712126

8

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI. Iosifidis C, et al. Acta Ophthalmol. 2022 Sep;100(6):e1332-e1339. doi: 10.1111/aos.15186. Epub 2022 May 28. Acta Ophthalmol. 2022. PMID: 35633130 Free article.

9

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M. Lacaze E, et al. Am J Med Genet A. 2013 Oct;161A(10):2582-7. doi: 10.1002/ajmg.a.36085. Epub 2013 Aug 8. Am J Med Genet A. 2013. PMID: 23929658

10

Clinical utility gene card for: 15q13.3 microdeletion syndrome.

Tropeano M, Andrieux J, Vassos E, Collier DA. Tropeano M, et al. Eur J Hum Genet. 2014 Nov;22(11):1338. doi: 10.1038/ejhg.2014.88. Epub 2014 May 14. Eur J Hum Genet. 2014. PMID: 24824131 Free PMC article. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

19 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

19 results

Results by year