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Ophthalmic Genetics Volume 23, 2002 - Issue 1
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Research Article

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid

Kenjiro Kosaki Department of Pediatrics, Keio University School of Medicine, Tokyo, and
,
Tsutomu Ogata Department of Pediatrics, Keio University School of Medicine, Tokyo, and
,
Rika Kosaki Department of Medical Genetics, Saitama Children‘s Medical Center, Iwatsuki, Japan
,
Seiji Sato Department of Pediatrics, Keio University School of Medicine, Tokyo, and
&
Nobutake Matsuo Department of Pediatrics, Keio University School of Medicine, Tokyo, and
Pages 43-47 | Published online: 08 Jul 2009

Citations (15)

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Amy C Ditewig & Humphrey Hung-Chang Yao. (2005) Organogenesis of the Ovary. Organogenesis 2:2, pages 36-41.
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Articles from other publishers (14)

Cécile Méjécase, Chandni Nigam, Mariya Moosajee & John C. Bladen. (2021) The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome. Genes 12:3, pages 364.
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Lin Yang, Tuo Li & Yiqiao Xing. (2017) Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis- ptosis- epicanthus inversus syndrome. Molecular Medicine Reports 16:4, pages 5529-5532.
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Irma Virant-Klun & Martin Stimpfel. (2016) Novel population of small tumour-initiating stem cells in the ovaries of women with borderline ovarian cancer. Scientific Reports 6:1.
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Min Xue, Jie Zheng, Qing Zhou, J. Fielding Hejtmancik, Yuan Wang & Shouling Li. (2015) Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. BMC Medical Genetics 16:1.
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J. Bronwyn Bateman & Sherwin J. Isenberg. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 19 .
Ibtissem ChoucheneKaouthar DerouicheAfif ChaabouniLamia CherifAhlem AmouriLeila LarguecheSonia AbdelhakLeila El Matri. (2010) Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family . Genetic Testing and Molecular Biomarkers 14:1, pages 145-148.
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Dongmei LiWotan ZengJing TaoShentao LiChen LiangXiaojun ChenWeihua MuXiaohong WangYi QinYing JieWenbin Wei. (2009) Mutations of the Transcription Factor FOXL2 Gene in Chinese Patients with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome . Genetic Testing and Molecular Biomarkers 13:2, pages 257-268.
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Diane Beysen, Anne De Paepe & Elfride De Baere. (2009) FOXL2 mutations and genomic rearrangements in BPES . Human Mutation 30:2, pages 158-169.
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Humphrey Hung‐Chang Yao. 2005. Cell Signaling and Growth Factors in Development. Cell Signaling and Growth Factors in Development 947 978 .
Humphrey Hung-Chang Yao. (2005) The pathway to femaleness: current knowledge on embryonic development of the ovary. Molecular and Cellular Endocrinology 230:1-2, pages 87-93.
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Diane Beysen, Jo Vandesompele, Ludwine Messiaen, Anne De Paepe & Elfride De Baere. (2004) The humanFOXL2 mutation database. Human Mutation 24:3, pages 189-193.
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SC Cha, YS Jang, JH Lee, HK Kim, SC Kim, S Kim, S‐H Baek, WS Jung & J‐R Kim. (2003) Mutational analysis of forkhead transcriptional factor 2 ( FOXL2 ) in Korean patients with blepharophimosis–ptosis–epicanthus inversus syndrome . Clinical Genetics 64:6, pages 485-490.
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Siv Fokstuen, Stylianos E. Antonarakis & Jean‐Louis Blouin. (2002) FOXL2 ‐mutations in blepharophimosis‐ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients . American Journal of Medical Genetics Part A 117A:2, pages 143-146.
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Elfride De Baere, Diane Beysen, Christine Oley, Birgit Lorenz, Julie Cocquet, Paul De Sutter, Koen Devriendt, Michael Dixon, Marc Fellous, Jean-Pierre Fryns, Arturo Garza, Christoffer Jonsrud, Pasi A. Koivisto, Amanda Krause, Bart P. Leroy, Fran?oise Meire, Astrid Plomp, Lionel Van Maldergem, Anne De Paepe, Reiner Veitia & Ludwine Messiaen. (2003) FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation. The American Journal of Human Genetics 72:2, pages 478-487.
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