Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 15 (of 15 Records) |
Query Trace: Blepharophimosis[original query] |
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Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. Journal of human genetics 2002 1 46 (12): 733-6. Yamada T, Hayasaka S, Matsumoto M, Budu , Esa T, Hayasaka Y, Endo |
Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure. Molecular human reproduction 2004 Aug 10 (8): 555-7. Bodega B, Porta C, Crosignani P G, Ginelli E, Marozzi |
Identification of copy number variants associated with BPES-like phenotypes. Human genetics 2008 Dec 124 (5): 489-98. Gijsbers Antoinet C J, D'haene Barbara, Hilhorst-Hofstee Yvonne, Mannens Marcel, Albrecht Beate, Seidel Joerg, Witt David R, Maisenbacher Melissa K, Loeys Bart, van Essen Ton, Bakker Egbert, Hennekam Raoul, Breuning Martijn H, De Baere Elfride, Ruivenkamp Claudia A |
Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2010 Apr 26 (4): 246-9. Ni Feng, Wen Qiaolian, Wang Binbin, Zhou Sirui, Wang Jing, Mu Yuan, Ma Xu, Cao Yunx |
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome. Menopause (New York, N.Y.) 2015 May . Settas Nikolaos, Anapliotou Margarita, Kanavakis Emmanuel, Fryssira Helen, Sofocleous Christalena, Dacou-Voutetakis Catherine, Chrousos George P, Voutetakis Anton |
Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome. Current molecular medicine 2018 9 18 (3): 152-159. Lin B, Zeng B, Zhao J, Xu T, Wang Y, Hu B, Li F, Zhao Q, Liu R, Liu J, Chen J M, Huang D, Wang |
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. American journal of human genetics 2018 2 102 (3): 487-493. Bashamboo Anu, Eozenou Caroline, Jorgensen Anne, Bignon-Topalovic Joelle, Siffroi Jean-Pierre, Hyon Capucine, Tar Attila, Nagy Péter, Sólyom Janos, Halász Zita, Paye-Jaouen Annnabel, Lambert Sophie, Rodriguez-Buritica David, Bertalan Rita, Martinerie Laetitia, Rajpert-De Meyts Ewa, Achermann John C, McElreavey K |
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018 1 45 (1): 203-211. Li Fang, Chai Peiwei, Fan Jiayan, Wang Xi, Lu Wenjuan, Li Jin, Ge Shengfang, Jia Renbing, Zhang He, Fan Xianq |
Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus. Gene 2019 5 706 62-68. Chacón-Camacho Oscar F, Salgado-Medina Acatzin, Alcaraz-Lares Nayeli, López-Moreno Daniel, Barragán-Arévalo Tania, Nava-Castañeda Angel, Rodríguez-Uribe Genaro, Lieberman Esther, Rodríguez-Cabrera Lourdes, González-Del Angel Ariadna, Borbolla Ana María, Fernández-Hernández Liliana, Graue-Hernández Enrique O, Zenteno Juan Carl |
Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants. Frontiers in medicine 2021 9 8 708717. Paprocka Justyna, Nowak Magdalena, Nie? Maria, Janik Izabela, Rydzanicz Ma?gorzata, Robert ?migiel, Klaniewska Magdalena, Rutkowska Karolina, P?oski Rafa?, Jezela-Stanek Aleksand |
Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations. Frontiers in endocrinology 2022 5 13 829153. Meng Tingting, Zhang Wenzhe, Zhang Rongrong, Li Jie, Gao Yuan, Qin Yingying, Jiao X |
[Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1370-1374. Chen Jing, Tong Guanglei, Wang Yuchen, Ye Fuling, Shi Lei, Li Ho |
Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome. International journal of ophthalmology 2023 5 16 (5): 680-686. Yu-Cheng Yan, Lu Zhou, Jin-Cai F |
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. Investigative ophthalmology & visual science 2023 3 64 (3): 19. Wang Panfeng, Wu Pengsen, Wang Junwen, Zeng Yiyan, Jiang Yi, Wang Yingwei, Li Shiqiang, Xiao Xueshan, Zhang Qingjio |
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants. Journal of ovarian research 2023 2 16 (1): 39. Luo Wei, Ke Hanni, Tang Shuyan, Jiao Xue, Li Zhuqing, Zhao Shidou, Zhang Feng, Guo Ting, Qin Yingyi |
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