Cited In for PMID: 21987678

Year	Number of Results
2011	1
2012	1
2014	2
2015	2
2016	1
2017	1
2018	2
2019	1
2021	2
2023	1
2024	0

1

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S. Iqbal M, et al. Arch Ophthalmol. 2011 Oct;129(10):1351-7. doi: 10.1001/archophthalmol.2011.267. Arch Ophthalmol. 2011. PMID: 21987678 Free PMC article.

2

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.

Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S. Sen P, et al. Indian J Ophthalmol. 2023 Jun;71(6):2512-2520. doi: 10.4103/IJO.IJO_2579_22. Indian J Ophthalmol. 2023. PMID: 37322672 Free PMC article.

3

Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.

Dawood M, Lin S, Din TU, Shah IU, Khan N, Jan A, Marwan M, Sultan K, Nowshid M, Tahir R, Ahmed AN, Yasin M, Baple EL, Crosby AH, Saleha S. Dawood M, et al. Int J Ophthalmol. 2021 Dec 18;14(12):1843-1851. doi: 10.18240/ijo.2021.12.06. eCollection 2021. Int J Ophthalmol. 2021. PMID: 34926197 Free PMC article.

4

A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.

Woodard DR, Xing C, Ganne P, Liang H, Mahindrakar A, Sankurathri C, Hulleman JD, Mootha VV. Woodard DR, et al. Mol Vis. 2021 Apr 2;27:179-190. eCollection 2021. Mol Vis. 2021. PMID: 33907372 Free PMC article.

5

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.

Chen X, Sheng X, Liu Y, Li Z, Sun X, Jiang C, Qi R, Yuan S, Wang X, Zhou G, Zhen Y, Xie P, Liu Q, Yan B, Zhao C. Chen X, et al. J Transl Med. 2018 May 29;16(1):145. doi: 10.1186/s12967-018-1522-7. J Transl Med. 2018. PMID: 29843741 Free PMC article.

6

ER stress and unfolded protein response in ocular health and disease.

Kroeger H, Chiang WC, Felden J, Nguyen A, Lin JH. Kroeger H, et al. FEBS J. 2019 Jan;286(2):399-412. doi: 10.1111/febs.14522. Epub 2018 Jun 20. FEBS J. 2019. PMID: 29802807 Free PMC article. Review.

7

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF. Li L, et al. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424. Invest Ophthalmol Vis Sci. 2017. PMID: 28418496 Free PMC article.

8

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Ullah I, et al. Mol Vis. 2016 Jul 16;22:797-815. eCollection 2016. Mol Vis. 2016. PMID: 27440997 Free PMC article.

9

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

Maranhao B, Biswas P, Gottsch AD, Navani M, Naeem MA, Suk J, Chu J, Khan SN, Poleman R, Akram J, Riazuddin S, Lee P, Riazuddin SA, Hejtmancik JF, Ayyagari R. Maranhao B, et al. PLoS One. 2015 Sep 9;10(9):e0136561. doi: 10.1371/journal.pone.0136561. eCollection 2015. PLoS One. 2015. PMID: 26352687 Free PMC article.

10

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, Ayub H, Ali L, Ahmad S, Micheal S, Hussain A, Shah ST, Ali SH, Ahmed W, Khan YM, den Hollander AI, Haer-Wigman L, Collin RW, Khan MI, Qamar R, Cremers FP. Maria M, et al. PLoS One. 2015 Mar 16;10(3):e0119806. doi: 10.1371/journal.pone.0119806. eCollection 2015. PLoS One. 2015. PMID: 25775262 Free PMC article.

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