Similar articles for PMID: 10439959

Year	Number of Results
1993	1
1996	1
1998	3
1999	4
2000	7
2001	2
2002	2
2003	4
2004	3
2005	9
2006	5
2007	8
2008	4
2009	1
2011	2
2013	2
2014	2
2017	1
2018	2
2020	1
2024	0

1

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

Tentler D, Gustavsson P, Leisti J, Schueler M, Chelly J, Timonen E, Annerén G, Willard HF, Dahl N. Tentler D, et al. Eur J Hum Genet. 1999 Jul;7(5):541-8. doi: 10.1038/sj.ejhg.5200320. Eur J Hum Genet. 1999. PMID: 10439959

2

Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report.

Bogliş A, Cosma AS, Tripon F, Bãnescu C. Bogliş A, et al. Medicine (Baltimore). 2020 Aug 14;99(33):e21632. doi: 10.1097/MD.0000000000021632. Medicine (Baltimore). 2020. PMID: 32872024 Free PMC article.

3

X-linked ataxias.

Zanni G, Bertini E. Zanni G, et al. Handb Clin Neurol. 2018;155:175-189. doi: 10.1016/B978-0-444-64189-2.00011-1. Handb Clin Neurol. 2018. PMID: 29891057 Review.

4

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I. Moortgat S, et al. Eur J Med Genet. 2018 Aug;61(8):442-450. doi: 10.1016/j.ejmg.2018.03.002. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510240 Review.

5

Adult neurogenesis in intellectual disabilities.

Allegra M, Caleo M. Allegra M, et al. Oncotarget. 2017 Jul 11;8(28):45044-45045. doi: 10.18632/oncotarget.18476. Oncotarget. 2017. PMID: 28620149 Free PMC article. No abstract available.

6

Chromosome microarray and undiagnosed seizures in a pediatric patient.

Dawson AJ, Mhanni AA, Booth FA, Seargeant L, Bernier D, Tomiuk M, Hartley JN, Strecker M, Hovanes K. Dawson AJ, et al. Can J Neurol Sci. 2014 Mar;41(2):281-3. doi: 10.1017/s0317167100016747. Can J Neurol Sci. 2014. PMID: 24534047 No abstract available.

7

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

Santos-Rebouças CB, Belet S, Guedes de Almeida L, Ribeiro MG, Medina-Acosta E, Bahia PR, Alves da Silva AF, Lima dos Santos F, Borges de Lacerda GC, Pimentel MM, Froyen G. Santos-Rebouças CB, et al. Eur J Hum Genet. 2014 May;22(5):644-51. doi: 10.1038/ejhg.2013.216. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105372 Free PMC article.

8

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

Rocas D, Alix E, Michel J, Cordier MP, Labalme A, Guilbert H, Till M, Schluth-Bolard C, de Haas P, Massardier J, Portes Vd, Edery P, Touraine R, Guibaud L, Vasiljevic A, Sanlaville D. Rocas D, et al. Eur J Med Genet. 2013 May;56(5):270-3. doi: 10.1016/j.ejmg.2013.01.014. Epub 2013 Feb 14. Eur J Med Genet. 2013. PMID: 23416624

9

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.

Pirozzi F, Di Raimo FR, Zanni G, Bertini E, Billuart P, Tartaglione T, Tabolacci E, Brancaccio A, Neri G, Chiurazzi P. Pirozzi F, et al. Hum Mutat. 2011 Nov;32(11):E2294-307. doi: 10.1002/humu.21567. Epub 2011 Sep 14. Hum Mutat. 2011. PMID: 21796728

10

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Al-Owain M, Kaya N, Al-Zaidan H, Al-Hashmi N, Al-Bakheet A, Al-Muhaizea M, Chedrawi A, Basran RK, Milunsky A. Al-Owain M, et al. Clin Genet. 2011 Apr;79(4):363-70. doi: 10.1111/j.1399-0004.2010.01462.x. Clin Genet. 2011. PMID: 20528889

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