Literature DB >> 23557072

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.

H E Feberwee1, I Feenstra, S Oberoi, I E Sama, C W Ockeloen, F Clum, A Slavotinek, M A R Kuijpers, D Dooijes, A M Kuijpers-Jagtman, T Kleefstra, C E L Carels.   

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Year:  2013        PMID： 23557072     DOI： 10.1111/cge.12125

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  12 in total

1.  Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

Authors:  Sumita Danda; Vanessa A van Rahden; Deepa John; Padma Paul; Renu Raju; Santosh Koshy; Kerstin Kutsche
Journal:  Mol Syndromol       Date:  2014-08-01

2.  Radiculomegaly of canines in oculofaciocardiodental syndrome.

Authors:  Song Hee Oh; Ju Han Kang; Ju Hee Kang; Yu-Kyeong Seo; Sae Rom Lee; Yong-Suk Choi; Eui-Hwan Hwang
Journal:  Oral Radiol       Date:  2018-10-30       Impact factor: 1.852

3.  Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.

Authors:  Yujia Zhou; Antonina Wojcik; Victoria R Sanders; Bahram Rahmani; Sudhi P Kurup
Journal:  Int Ophthalmol       Date:  2017-10-22       Impact factor: 2.031

Review 4.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

Review 5.  Tooth agenesis and orofacial clefting: genetic brothers in arms?

Authors:  M Phan; F Conte; K D Khandelwal; C W Ockeloen; T Bartzela; T Kleefstra; H van Bokhoven; M Rubini; H Zhou; C E L Carels
Journal:  Hum Genet       Date:  2016-10-03       Impact factor: 4.132

Review 6.  BCOR involvement in cancer.

Authors:  Annalisa Astolfi; Michele Fiore; Fraia Melchionda; Valentina Indio; Salvatore N Bertuccio; Andrea Pession
Journal:  Epigenomics       Date:  2019-05-31       Impact factor: 4.778

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

Authors:  Joji Kato; Kazuhiko Kushima; Fumikazu Kushima
Journal:  Medicine (Baltimore)       Date:  2018-12       Impact factor: 1.817

8.  Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition.

Authors:  José Martinho; Hugo Ferreira; Siri Paulo; Anabela Paula; Carlos-Miguel Marto; Eunice Carrilho; Manuel Marques-Ferreira
Journal:  Int J Environ Res Public Health       Date:  2019-03-14       Impact factor: 3.390

9.  OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.

Authors:  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
Journal:  Dev Biol       Date:  2020-07-18       Impact factor: 3.148

10.  Genome wide screening of candidate genes for improving piglet birth weight using high and low estimated breeding value populations.

Authors:  Lifan Zhang; Xiang Zhou; Jennifer J Michal; Bo Ding; Rui Li; Zhihua Jiang
Journal:  Int J Biol Sci       Date:  2014-02-07       Impact factor: 6.580
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