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V. Hernández, I. Pascual-Camps, M. J. Aparisi, M. Martínez-Matilla, F. Martínez, J. A Cerón & L. Pedrola. (2019) Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families. Ophthalmic Genetics 40:6, pages 553-557.
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Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes & Verónica Fabiola Morán-Barroso. (2018) Nance–Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature. Ophthalmic Genetics 39:1, pages 56-62.
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Nadav Shoshany, Isaac Avni, Yair Morad, Chen Weiner, Adi Einan-Lifshitz & Eran Pras. (2017) NHS Gene Mutations in Ashkenazi Jewish Families with Nance–Horan Syndrome. Current Eye Research 42:9, pages 1240-1244.
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Articles from other publishers (9)
Shunlai Shang, Chao Wang, Lang Chen, Wanjun Shen, Yuansheng Xie, Wenge Li & Qinggang Li. (2023) Novel method for the genomic analysis of PKD1 mutation in autosomal dominant polycystic kidney disease. Frontiers in Cell and Developmental Biology 10.
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Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva, Gianluca Piccolo, Maria Concetta Cutrupi, Pasquale Striano, Andrea Accogli, Federico Zara, Gabriella Di Rosa, Eloisa Gitto, Elisa Calì, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden & Roberto Chimenz. (2021) Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome. Brain Sciences 11:9, pages 1150.
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Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang & Shuyang Zhang. (2019) Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. BMC Medical Genetics 20:1.
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Meirong Wei, Anhui Qi, Haiming Mo, Kailin Wu, Xu Ma & Binbin Wang. (2019) A novel NHS mutation in a Chinese family with Nance‑Horan Syndrome. Molecular Medicine Reports.
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Yuan Wu, Lamei Yuan, Yi Guo, Anjie Lu, Wen Zheng, Hongbo Xu, Yan Yang, Pengzhi Hu, Shaojuan Gu, Bingqi Wang & Hao Deng. (2018)
Identification of a
GNE
homozygous mutation in a Han-Chinese family with GNE myopathy
. Journal of Cellular and Molecular Medicine 22:11, pages 5533-5538.
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Huajin Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Shijing Wu & Ruifang Sui. (2018) A novel small deletion in the NHS gene associated with Nance-Horan syndrome. Scientific Reports 8:1.
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Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin & Qian Pan. (2017) A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family. BMC Medical Genetics 18:1.
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Hans Gjørup, Dorte Haubek, Pernille Jacobsen & John R. Ostergaard. (2017) Nance-Horan syndrome-The oral perspective on a rare disease. American Journal of Medical Genetics Part A 173:1, pages 88-98.
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Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koenraad Devriendt, Monica Rosello, Sonia Mayo, Francisco Martinez, Shalini Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joris R. Vermeesch, Peter Marynen & Guy Froyen. (2016) Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Human Mutation 37:8, pages 804-811.
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