143 related articles for article (PubMed ID: 17845870)
1. Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.
Menten B; Buysse K; Vermeulen S; Meersschaut V; Vandesompele J; Ng BL; Carter NP; Mortier GR; Speleman F
Eur J Med Genet; 2007; 50(6):446-54. PubMed ID: 17845870
[TBL] [Abstract][Full Text] [Related]
2. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
Bergmann C; Zerres K; Senderek J; Rudnik-Schoneborn S; Eggermann T; Häusler M; Mull M; Ramaekers VT
Brain; 2003 Jul; 126(Pt 7):1537-44. PubMed ID: 12805098
[TBL] [Abstract][Full Text] [Related]
3. 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
Eur J Med Genet; 2013 May; 56(5):270-3. PubMed ID: 23416624
[TBL] [Abstract][Full Text] [Related]
4. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.
Bedeschi MF; Novelli A; Bernardini L; Parazzini C; Bianchi V; Torres B; Natacci F; Giuffrida MG; Ficarazzi P; Dallapiccola B; Lalatta F
Am J Med Genet A; 2008 Jul; 146A(13):1718-24. PubMed ID: 18512229
[TBL] [Abstract][Full Text] [Related]
5. [Progress in the study of OPHN1 gene].
Zhang LJ; Zhang FC; Gao XC
Sheng Li Ke Xue Jin Zhan; 2006 Jan; 37(1):69-71. PubMed ID: 16683552
[No Abstract] [Full Text] [Related]
6. Balanced translocations in mental retardation.
Vandeweyer G; Kooy RF
Hum Genet; 2009 Jul; 126(1):133-47. PubMed ID: 19347365
[TBL] [Abstract][Full Text] [Related]
7. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
[TBL] [Abstract][Full Text] [Related]
8. Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.
Barresi S; Tomaselli S; Athanasiadis A; Galeano F; Locatelli F; Bertini E; Zanni G; Gallo A
PLoS One; 2014; 9(3):e91351. PubMed ID: 24637888
[TBL] [Abstract][Full Text] [Related]
9. 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
Clin Genet; 2011 Apr; 79(4):363-70. PubMed ID: 20528889
[TBL] [Abstract][Full Text] [Related]
10. Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.
Billuart P; Chelly J; Carrié A; Vinet M; Couvert P; McDonell N; Zemni R; Kahn A; Moraine C; Beldjord C; Bienvenu T
Ann Genet; 2000; 43(1):5-9. PubMed ID: 10818214
[TBL] [Abstract][Full Text] [Related]
11. Deletion of the OPHN1 gene detected by aCGH.
Madrigal I; Rodríguez-Revenga L; Badenas C; Sánchez A; Milà M
J Intellect Disabil Res; 2008 Mar; 52(Pt 3):190-4. PubMed ID: 18261018
[TBL] [Abstract][Full Text] [Related]
12. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
Ballarati L; Recalcati MP; Bedeschi MF; Lalatta F; Valtorta C; Bellini M; Finelli P; Larizza L; Giardino D
Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
[TBL] [Abstract][Full Text] [Related]
13. Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.
Annunziata I; Lanzara C; Conte I; Zullo A; Ventruto V; Rinaldi MM; D'Urso M; Casari G; Ciccodicola A; Miano MG
Am J Med Genet A; 2003 Apr; 118A(3):217-22. PubMed ID: 12673650
[TBL] [Abstract][Full Text] [Related]
14. Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
Wieland I; Weidner C; Ciccone R; Lapi E; McDonald-McGinn D; Kress W; Jakubiczka S; Collmann H; Zuffardi O; Zackai E; Wieacker P
Clin Genet; 2007 Dec; 72(6):506-16. PubMed ID: 17941886
[TBL] [Abstract][Full Text] [Related]
15. 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
Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
[TBL] [Abstract][Full Text] [Related]
16. Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement.
De Brasi D; Della Casa R; Titomanlio L; D'Agostino A; Perone L; Andria G
Neuropediatrics; 2000 Jun; 31(3):164-6. PubMed ID: 10963108
[No Abstract] [Full Text] [Related]
17. 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
Medicine (Baltimore); 2020 Aug; 99(33):e21632. PubMed ID: 32872024
[TBL] [Abstract][Full Text] [Related]
18. 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
Eur J Hum Genet; 1999 Jul; 7(5):541-8. PubMed ID: 10439959
[TBL] [Abstract][Full Text] [Related]
19. A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly.
Joyce CA; Cabral de Almeida JC; Santa Rose AA; Correia P; Moraes L; Bastos E; Llerena J
Clin Genet; 1999 Jul; 56(1):86-92. PubMed ID: 10466423
[TBL] [Abstract][Full Text] [Related]
20. De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.
Goumy C; Mihaescu M; Tchirkov A; Giollant M; Benier C; Francannet C; Jaffray JY; Geneix A; Vago P
Genet Couns; 2006; 17(3):371-9. PubMed ID: 17100206
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
