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Select item 107658061.

Oculo-facio-cardio-dental (OFCD) syndrome: a case report

Tung Thanh Nguyen, Anh Thai Hoang Truong, Vu Anh Hoang, Duong Van Huynh, Tuan Van Nguyen, Chanh Trung Le, Dung Thi Phuong Dang, Minh Huu Nhat Le

J Med Case Rep. 2024; 18: 18. Published online 2024 Jan 4. doi: 10.1186/s13256-023-04244-x

PMCID:: PMC10765806

Article PDF–1.7M

Select item 102611152.

Oculofaciocardiodental syndrome caused by a novel BCOR variant

Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto

Hum Genome Var. 2023; 10: 18. Published online 2023 Jun 12. doi: 10.1038/s41439-023-00244-x

PMCID:: PMC10261115

Article PDF–1.0M

Select item 95836203.

OFCD Syndrome and Extraembryonic Defects are Revealed by Conditional Mutation of the Polycomb-group Repressive Complex 1.1 (PRC1.1) Gene Bcor

Michelle Y. Hamline, Connie M. Corcoran, Joseph A. Wamstad, Isabelle Miletich, Jifan Feng, Jamie L. Lohr, Myriam Hemberger, Paul T. Sharpe, Micah D. Gearhart, Vivian J. Bardwell

Dev Biol. Author manuscript; available in PMC 2022 Oct 20.

Published in final edited form as: Dev Biol. 2020 Dec 1; 468(1-2): 110–132. Published online 2020 Jul 18. doi: 10.1016/j.ydbio.2020.06.013

PMCID:: PMC9583620

Article PDF–4.9M

Select item 89900344.

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

Jianlong Zhuang, Chunnuan Chen, Yu’e Chen, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Xinying Chen, Yingjun Xie, Gaoxiong Wang

Front Genet. 2022; 13: 829613. Published online 2022 Mar 25. doi: 10.3389/fgene.2022.829613

PMCID:: PMC8990034

Article PDF–1.0M

Select item 69496645.

Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

T. M. Morgan, J. M. Colazo, L. Duncan, R. Hamid, K. M. Joos

Case Rep Genet. 2019; 2019: 9382640. Published online 2019 Dec 28. doi: 10.1155/2019/9382640

PMCID:: PMC6949664

Article PDF–5.0M

Select item 63105356.

New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report

Joji Kato, Kazuhiko Kushima, Fumikazu Kushima

Medicine (Baltimore) 2018 Dec; 97(49): e13444. Published online 2018 Dec 10. doi: 10.1097/MD.0000000000013444

PMCID:: PMC6310535

Article PDF–1.0M

Select item 33540117.

Oculofaciocardiodental (OFCD) Syndrome: a Rare Case and Review of the Literature

Amirparviz Davoody, I-Ping Chen, Ravindra Nanda, Flavio Uribe, Ernst J. Reichenberger

Cleft Palate Craniofac J. Author manuscript; available in PMC 2012 Oct 4.

Published in final edited form as: Cleft Palate Craniofac J. 2012 Sep; 49(5): e55–e60. Published online 2011 Jul 8. doi: 10.1597/10-256

PMCID:: PMC3354011

Article PDF–1.3M

Select item 98229618.

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts

Daphna Mezad-Koursh, Eldar Rosenfeld, Anat Bachar Zipori, Dinah Zur, Emil Elhanan, Shay Ben-Shachar

Eur J Hum Genet. 2023 Jan; 31(1): 125–127. Published online 2022 Oct 20. doi: 10.1038/s41431-022-01195-7

PMCID:: PMC9822961

Article PDF–534K

Select item 61656739.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

Renqian Du, Nuriye Dinckan, Xiaofei Song, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Lauren E. Petty, Donna M. Muzny, Jennifer E. Below, Eric Boerwinkle, Nan Wu, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Ariadne Letra, Z. Oya Uyguner

Hum Genet. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 689–703. Published online 2018 Jul 26. doi: 10.1007/s00439-018-1907-y

PMCID:: PMC6165673

Article PDF–942K

Select item 395102210.

A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome

Koichi Tanaka, Akiko Kato, Chelsea Angelocci, Minoru Watanabe, Yoichi Kato

Dev Biol. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Dev Biol. 2014 Mar 1; 387(1): 28–36. Published online 2014 Jan 17. doi: 10.1016/j.ydbio.2014.01.003

PMCID:: PMC3951022

Article PDF–2.3M

Select item 385420511.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

B. Lozić, J. Ljubković, D. Gabrić Pandurić, I. Saltvig, K. Kutsche, V. Krželj, T. Zemunik

Braz J Med Biol Res. 2012 Dec; 45(12): 1315–1319. Published online 2012 Sep 21. doi: 10.1590/S0100-879X2012007500150

PMCID:: PMC3854205

Article PDF–1.8M

Select item 373687312.

Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata

Jiwoon Lee, Bum-Kyu Lee, Jeffrey M. Gross

Hum Mol Genet. 2013 Sep 1; 22(17): 3568–3582. Published online 2013 May 12. doi: 10.1093/hmg/ddt211

PMCID:: PMC3736873

Article PDF–1.5M

Select item 362750513.

Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition

Z. Zeng, J.R. Shaffer, X. Wang, E. Feingold, D.E. Weeks, M. Lee, K.T. Cuenco, S.K. Wendell, R.J. Weyant, R. Crout, D.W. McNeil, M.L. Marazita

J Dent Res. 2013 May; 92(5): 432–437. doi: 10.1177/0022034513481976

PMCID:: PMC3627505

Article PDF–1.8M

Select item 322415214.

Eye Development Genes and Known Syndromes

Anne M. Slavotinek

Mol Genet Metab. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Mol Genet Metab. 2011 Dec; 104(4): 448–456. Published online 2011 Sep 29. doi: 10.1016/j.ymgme.2011.09.029

PMCID:: PMC3224152

Article PDF–347K

Select item 282614515.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro Nishio, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony Moore, David Fitzpatrick, Johannes Lemke, Florence Fellmann, François-Guillaume Debray, Florence Dastot-Le-Moal, Marion Gerard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloes, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly Hay, Kim Jenny, Kathreen Johnston, Michael Lyons, John W Belmont, Leslie G Biesecker, Irina Giurgea, Graeme Black

Eur J Hum Genet. 2009 Oct; 17(10): 1325–1335. Published online 2009 Apr 15. doi: 10.1038/ejhg.2009.52