PubMed (GeneRIF) for id: 4810

Year	Number of Results
2003	1
2004	1
2005	1
2006	1
2007	1
2008	1
2009	2
2010	2
2011	1
2012	1
2013	1
2014	3
2015	1
2017	4
2018	2
2019	2
2020	1
2024	0

1

Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.

Clarke JM, Alikian M, Xiao S, Kasperaviciute D, Thomas E, Turbin I, Olupona K, Cifra E, Curetean E, Ferguson T, Redhead J; Genomics England Research Consortium; Shovlin CL. Clarke JM, et al. J Med Genet. 2020 Dec;57(12):859-862. doi: 10.1136/jmedgenet-2019-106794. Epub 2020 Apr 17. J Med Genet. 2020. PMID: 32303606 Free PMC article. No abstract available.

2

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.

Hernández V, Pascual-Camps I, Aparisi MJ, Martínez-Matilla M, Martínez F, Cerón JA, Pedrola L. Hernández V, et al. Ophthalmic Genet. 2019 Dec;40(6):553-557. doi: 10.1080/13816810.2019.1692362. Epub 2019 Nov 22. Ophthalmic Genet. 2019. PMID: 31755796

3

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C, Sui R, Yao F, Wu Z, Zhang X, Zhang S. Ling C, et al. BMC Med Genet. 2019 Jan 14;20(1):14. doi: 10.1186/s12881-018-0725-3. BMC Med Genet. 2019. PMID: 30642278 Free PMC article.

4

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

Li H, Yang L, Sun Z, Yuan Z, Wu S, Sui R. Li H, et al. Sci Rep. 2018 Feb 5;8(1):2398. doi: 10.1038/s41598-018-20787-2. Sci Rep. 2018. PMID: 29402928 Free PMC article.

5

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.

Gómez-Laguna L, Martínez-Herrera A, Reyes-de la Rosa ADP, García-Delgado C, Nieto-Martínez K, Fernández-Ramírez F, Valderrama-Atayupanqui TY, Morales-Jiménez AB, Villa-Morales J, Kofman S, Cervantes A, Morán-Barroso VF. Gómez-Laguna L, et al. Ophthalmic Genet. 2018 Jan-Feb;39(1):56-62. doi: 10.1080/13816810.2017.1363245. Epub 2017 Sep 18. Ophthalmic Genet. 2018. PMID: 28922055 Review.

6

NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.

Shoshany N, Avni I, Morad Y, Weiner C, Einan-Lifshitz A, Pras E. Shoshany N, et al. Curr Eye Res. 2017 Sep;42(9):1240-1244. doi: 10.1080/02713683.2017.1304560. Epub 2017 May 30. Curr Eye Res. 2017. PMID: 28557584

7

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. Accogli A, et al. Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464487

8

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

Tian Q, Li Y, Kousar R, Guo H, Peng F, Zheng Y, Yang X, Long Z, Tian R, Xia K, Lin H, Pan Q. Tian Q, et al. BMC Med Genet. 2017 Jan 7;18(1):2. doi: 10.1186/s12881-016-0360-9. BMC Med Genet. 2017. PMID: 28061824 Free PMC article.

9

Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.

Li A, Li B, Wu L, Yang L, Chen N, Ma Z. Li A, et al. Curr Eye Res. 2015 Apr;40(4):434-8. doi: 10.3109/02713683.2014.959606. Epub 2014 Sep 30. Curr Eye Res. 2015. PMID: 25266737

10

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Hong N, Chen YH, Xie C, Xu BS, Huang H, Li X, Yang YQ, Huang YP, Deng JL, Qi M, Gu YS. Hong N, et al. J Zhejiang Univ Sci B. 2014 Aug;15(8):727-34. doi: 10.1631/jzus.B1300321. J Zhejiang Univ Sci B. 2014. PMID: 25091991 Free PMC article.

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