Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 16 (of 16 Records) |
Query Trace: Anterior Segment Dysgenesis[original query] |
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Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic genetics 2004 12 25 (4): 257-70. Edward Deepak, Al Rajhi Ali, Lewis Richard Alan, Curry Stacey, Wang Zongren, Bejjani Bass |
The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. Investigative ophthalmology & visual science 2009 Jan 50 (1): 75-83. Chakrabarti Subhabrata, Kaur Kiranpreet, Rao Kollu Nageswara, Mandal Anil K, Kaur Inderjeet, Parikh Rajul S, Thomas Ra |
FOXE3 plays a significant role in autosomal recessive microphthalmia. American journal of medical genetics. Part A 2010 Mar 152A (3): 582-90. Reis Linda M, Tyler Rebecca C, Schneider Adele, Bardakjian Tanya, Stoler Joan M, Melancon Serge B, Semina Elena |
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Investigative ophthalmology & visual science 2011 Jan 52 (1): 324-33. D'haene Barbara, Meire Françoise, Claerhout Ilse, Kroes Hester Y, Plomp Astrid, Arens Yvonne H, de Ravel Thomy, Casteels Ingele, De Jaegere Sarah, Hooghe Sally, Wuyts Wim, van den Ende Jenneke, Roulez Françoise, Veenstra-Knol Hermine E, Oldenburg Rogier A, Giltay Jacques, Verheij Johanna B G M, de Faber Jan-Tjeerd, Menten Björn, De Paepe Anne, Kestelyn Philippe, Leroy Bart P, De Baere Elfri |
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. International journal of molecular medicine 2015 Oct 36 (4): 1111-7. Huang Xiaobo, Xiao Xueshan, Jia Xiaoyun, Li Shiqiang, Li Miaoling, Guo Xiangming, Liu Xing, Zhang Qingjio |
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Molecular vision 2016 22 1229-1238. Reis Linda M, Tyler Rebecca C, Weh Eric, Hendee Kathryn E, Kariminejad Ariana, Abdul-Rahman Omar, Ben-Omran Tawfeg, Manning Melanie A, McCarty Catherine A, Kitchner Terrie E, Costakos Deborah, Semina Elena |
Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome. Journal of ophthalmology 2019 7 2019 5642126. Huang Liqin, Meng Yong, Guo Xiangmi |
Compound heterozygous mutations in SMO associated with anterior segment dysgenesis and morning glory syndrome. Gene 2019 7 713 143973. Zhang Jing, Li Yue, Fan Yidan, Wu Dan, Xu Jianjia |
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. PloS one 2020 9 15 (9): e0239748. Rashid Muhammad, Qasim Muhammad, Ishaq Rafaqat, Bukhari Shazia Anwer, Sajid Zureesha, Ashfaq Usman Ali, Haque Asma, Ahmed Zubair |
Evaluation of the genetic association between early-onset primary angle-closure glaucoma and retinitis pigmentosa. Experimental eye research 2020 6 197 108118. Liu Xing, Li Jiali, Lin Shufen, Xiao Xueshan, Luo Jingyi, Wei Wei, Ling Yunlan, Fang Lei, Xiao Hui, Chen Liming, Huang Jingjing, Zhong Yimin, Zhang Qingjio |
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genetics in medicine : official journal of the American College of Medical Genetics 2020 6 22 (10): 1673-1681. Wu Chen-Han Wilfred, Mann Nina, Nakayama Makiko, Connaughton Dervla M, Dai Rufeng, Kolvenbach Caroline M, Kause Franziska, Ottlewski Isabel, Wang Chunyan, Klämbt Verena, Seltzsam Steve, Lai Ethan W, Selvin Aravind, Senguttuva Prabha, Bodamer Olaf, Stein Deborah R, El Desoky Sherif, Kari Jameela A, Tasic Velibor, Bauer Stuart B, Shril Shirlee, Hildebrandt Friedhe |
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. Ophthalmology 2020 2 127 (6): 758-766. Siggs Owen M, Souzeau Emmanuelle, Taranath Deepa A, Dubowsky Andrew, Chappell Angela, Zhou Tiger, Javadiyan Shari, Nicholl Jillian, Kearns Lisa S, Staffieri Sandra E, Narita Andrew, Smith James E H, Pater John, Hewitt Alex W, Ruddle Jonathan B, Elder James E, Mackey David A, Burdon Kathryn P, Craig Jamie |
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clinical genetics 2020 12 99 (3): 437-442. Reis Linda M, Costakos Deborah, Wheeler Patricia G, Bardakjian Tanya, Schneider Adele, Fung Simon S M, , Semina Elena |
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant. Journal of clinical medicine 2022 9 11 (17): . Skalicka Pavlina, Jedlickova Jana, Horinek Ales, Trkova Marie, Davidson Alice E, Tuft Stephen J, Dudakova Lubica, Liskova Pet |
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Clinical genetics 2022 2 101 (5-6): 494-506. Chesneau Bertrand, Aubert-Mucca Marion, Fremont Félix, Pechmeja Jacmine, Soler Vincent, Isidor Bertrand, Nizon Mathilde, Dollfus Hélène, Kaplan Josseline, Fares-Taie Lucas, Rozet Jean-Michel, Busa Tiffany, Lacombe Didier, Naudion Sophie, Amiel Jeanne, Rio Marlène, Attie-Bitach Tania, Lesage Cécile, Thouvenin Dominique, Odent Sylvie, Morel Godelieve, Vincent-Delorme Catherine, Boute Odile, Vanlerberghe Clémence, Dieux Anne, Boussion Simon, Faivre Laurence, Pinson Lucile, Laffargue Fanny, Le Guyader Gwenaël, Le Meur Guylène, Prieur Fabienne, Lambert Victor, Laudier Beatrice, Cottereau Edouard, Ayuso Carmen, Corton-Pérez Marta, Bouneau Laurence, Le Caignec Cédric, Gaston Véronique, Jeanton-Scaramouche Claire, Dupin-Deguine Delphine, Calvas Patrick, Chassaing Nicolas, Plaisancié Jul |
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 |
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- Page last updated:Apr 22, 2024
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