181 related articles for article (PubMed ID: 30450806)
1. Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
Kraus C; Uebe S; Thiel CT; Ekici AB; Reis A; Zweier C
Am J Med Genet A; 2018 Dec; 176(12):2872-2876. PubMed ID: 30450806
[TBL] [Abstract][Full Text] [Related]
2. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
Suzumori N; Kaname T; Muramatsu Y; Yanagi K; Kumagai K; Mizuno S; Naritomi K; Saitoh S; Sugiura-Ogasawara M
J Obstet Gynaecol Res; 2013 Nov; 39(11):1545-7. PubMed ID: 23815237
[TBL] [Abstract][Full Text] [Related]
3. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N; Isidor B; Bitoun P; Odent S; Giurgea I; Cogné B; Deb W; Vincent M; Le Gall J; Morton J; Lim D; ; Le Meur G; Zazo Seco C; Zafeiropoulou D; Bax D; Zwijnenburg P; Arteche A; Swafiri ST; Cleaver R; McEntagart M; Kini U; Newman W; Ayuso C; Corton M; Herenger Y; Jeanne M; Calvas P; Chassaing N
Hum Genet; 2019 Sep; 138(8-9):1051-1069. PubMed ID: 29974297
[TBL] [Abstract][Full Text] [Related]
4. Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
Zhu X; Dai FR; Wang J; Zhang Y; Tan ZP; Zhang Y
Gene; 2015 Oct; 571(1):142-4. PubMed ID: 26196063
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
Horn D; Chyrek M; Kleier S; Lüttgen S; Bolz H; Hinkel GK; Korenke GC; Riess A; Schell-Apacik C; Tinschert S; Wieczorek D; Gillessen-Kaesbach G; Kutsche K
Eur J Hum Genet; 2005 May; 13(5):563-9. PubMed ID: 15770227
[TBL] [Abstract][Full Text] [Related]
6. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E; Johnston J; Whalen S; Okamoto N; Hatsukawa Y; Nishio J; Kohara H; Hirano Y; Mizuno S; Torii C; Kosaki K; Manouvrier S; Boute O; Perveen R; Law C; Moore A; Fitzpatrick D; Lemke J; Fellmann F; Debray FG; Dastot-Le-Moal F; Gerard M; Martin J; Bitoun P; Goossens M; Verloes A; Schinzel A; Bartholdi D; Bardakjian T; Hay B; Jenny K; Johnston K; Lyons M; Belmont JW; Biesecker LG; Giurgea I; Black G
Eur J Hum Genet; 2009 Oct; 17(10):1325-35. PubMed ID: 19367324
[TBL] [Abstract][Full Text] [Related]
7. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.
Redwood A; Douzgou S; Waller S; Ramsden S; Roberts A; Bonin H; Lloyd IC; Ashworth J; Black GCM; Clayton-Smith J
Eur J Med Genet; 2020 Feb; 63(2):103658. PubMed ID: 31048080
[TBL] [Abstract][Full Text] [Related]
8. A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia.
Schwaibold EMC; Brugger M; Wagner M
Clin Genet; 2021 Oct; 100(4):489-490. PubMed ID: 34313322
[No Abstract] [Full Text] [Related]
9. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
Ng D; Thakker N; Corcoran CM; Donnai D; Perveen R; Schneider A; Hadley DW; Tifft C; Zhang L; Wilkie AO; van der Smagt JJ; Gorlin RJ; Burgess SM; Bardwell VJ; Black GC; Biesecker LG
Nat Genet; 2004 Apr; 36(4):411-6. PubMed ID: 15004558
[TBL] [Abstract][Full Text] [Related]
10. Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.
Wawrocka A; Walczak-Sztulpa J; Pawlak M; Gotz-Wieckowska A; Krawczynski MR
Am J Med Genet A; 2021 Jan; 185(1):250-255. PubMed ID: 33111437
[TBL] [Abstract][Full Text] [Related]
11. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
Ng D; Hadley DW; Tifft CJ; Biesecker LG
Am J Med Genet; 2002 Jul; 110(4):308-14. PubMed ID: 12116202
[TBL] [Abstract][Full Text] [Related]
12. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Esmailpour T; Riazifar H; Liu L; Donkervoort S; Huang VH; Madaan S; Shoucri BM; Busch A; Wu J; Towbin A; Chadwick RB; Sequeira A; Vawter MP; Sun G; Johnston JJ; Biesecker LG; Kawaguchi R; Sun H; Kimonis V; Huang T
J Med Genet; 2014 Mar; 51(3):185-96. PubMed ID: 24431331
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Lin S; Harlalka GV; Hameed A; Reham HM; Yasin M; Muhammad N; Khan S; Baple EL; Crosby AH; Saleha S
BMC Med Genet; 2018 Sep; 19(1):160. PubMed ID: 30200890
[TBL] [Abstract][Full Text] [Related]
14. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Riera M; Wert A; Nieto I; Pomares E
Mol Genet Genomic Med; 2017 Nov; 5(6):709-719. PubMed ID: 29178648
[TBL] [Abstract][Full Text] [Related]
15. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
Martínez-Garay I; Tomás M; Oltra S; Ramser J; Moltó MD; Prieto F; Meindl A; Kutsche K; Martínez F
Eur J Hum Genet; 2007 Jan; 15(1):29-34. PubMed ID: 17033686
[TBL] [Abstract][Full Text] [Related]
16. Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.
Cinnirella G; Taylor RL; Coco C; Piludu F; Vidiri A; Sinibaldi L; Kornak U; Black G; Brancati F
Clin Genet; 2020 Oct; 98(4):413-415. PubMed ID: 32748437
[TBL] [Abstract][Full Text] [Related]
17. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
Deml B; Reis LM; Maheshwari M; Griffis C; Bick D; Semina EV
Clin Genet; 2014 Nov; 86(5):475-81. PubMed ID: 24628545
[TBL] [Abstract][Full Text] [Related]
18. VSX2 mutations in autosomal recessive microphthalmia.
Reis LM; Khan A; Kariminejad A; Ebadi F; Tyler RC; Semina EV
Mol Vis; 2011; 17():2527-32. PubMed ID: 21976963
[TBL] [Abstract][Full Text] [Related]
19. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
Kondo Y; Saitsu H; Miyamoto T; Nishiyama K; Tsurusaki Y; Doi H; Miyake N; Ryoo NK; Kim JH; Yu YS; Matsumoto N
J Hum Genet; 2012 Mar; 57(3):197-201. PubMed ID: 22301464
[TBL] [Abstract][Full Text] [Related]
20. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R; Dinckan N; Song X; Coban-Akdemir Z; Jhangiani SN; Guven Y; Aktoren O; Kayserili H; Petty LE; Muzny DM; Below JE; Boerwinkle E; Wu N; Gibbs RA; Posey JE; Lupski JR; Letra A; Uyguner ZO
Hum Genet; 2018 Sep; 137(9):689-703. PubMed ID: 30046887
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]