PubMed for id: 1390862

Year	Number of Results
2011	1
2012	2
2013	4
2015	1
2016	1
2017	2
2018	2
2019	1
2020	2
2021	4
2022	1
2023	0

1

López-Cañizares A, Fernandez MP, Al-Khersan H, Carletti P, Arroyo MS, Fernandez-Ruiz MC, Berrocal AM. López-Cañizares A, et al. Ophthalmic Genet. 2022 Aug;43(4):543-549. doi: 10.1080/13816810.2022.2051193. Epub 2022 Apr 13. Ophthalmic Genet. 2022. PMID: 35416114

2

Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.

Riquelme J, Takada S, van Dijk T, Peña F, Boogaard MW, van Duyvenvoorde HA, Pico-Knijnenburg I, Wit JM, van der Burg M, Mericq V, Losekoot M. Riquelme J, et al. Horm Res Paediatr. 2021;94(11-12):448-455. doi: 10.1159/000520410. Epub 2021 Oct 27. Horm Res Paediatr. 2021. PMID: 34706368

3

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Acharya T, Firth HV, Dugar S, Grammatikopoulos T, Seabra L, Walters A, Crow YJ, Parker APJ. Acharya T, et al. Mol Genet Genomic Med. 2021 Dec;9(12):e1708. doi: 10.1002/mgg3.1708. Epub 2021 Jun 10. Mol Genet Genomic Med. 2021. PMID: 34110109 Free PMC article.

4

Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1.

Choudhury A, Mohammad T, Samarth N, Hussain A, Rehman MT, Islam A, Alajmi MF, Singh S, Hassan MI. Choudhury A, et al. Sci Rep. 2021 May 13;11(1):10202. doi: 10.1038/s41598-021-89450-7. Sci Rep. 2021. PMID: 33986331 Free PMC article.

5

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.

Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Himes RW, et al. J Pediatr. 2021 Mar;230:55-61.e4. doi: 10.1016/j.jpeds.2020.09.038. Epub 2020 Sep 21. J Pediatr. 2021. PMID: 32971146

6

An Indian child with Coats plus syndrome due to mutations in STN1.

Passi GR, Shamim U, Rathore S, Joshi A, Mathur A, Parveen S, Sharma P, Crow YJ, Faruq M. Passi GR, et al. Am J Med Genet A. 2020 Sep;182(9):2139-2144. doi: 10.1002/ajmg.a.61737. Epub 2020 Jul 6. Am J Med Genet A. 2020. PMID: 32627942

7

[Infant with intracranial calcifications and retinopathy].

Hidalgo-Sanz J, Perez-Delgado R, Garcia-Jimenez I, Lopez-Pison J, Castillo-Castejon O, Poch ML, Izquierdo-Alvarez S. Hidalgo-Sanz J, et al. Rev Neurol. 2019 Oct 1;69(7):289-292. doi: 10.33588/rn.6907.2019166. Rev Neurol. 2019. PMID: 31559627 Free article. Spanish.

8

Pathogenic CTC1 mutations cause global genome instabilities under replication stress.

Wang Y, Chai W. Wang Y, et al. Nucleic Acids Res. 2018 May 4;46(8):3981-3992. doi: 10.1093/nar/gky114. Nucleic Acids Res. 2018. PMID: 29481669 Free PMC article.

9

Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.

Peene G, Smets E, Legius E, Cassiman C. Peene G, et al. Ophthalmic Genet. 2018 Apr;39(2):247-250. doi: 10.1080/13816810.2017.1401086. Epub 2017 Nov 21. Ophthalmic Genet. 2018. PMID: 29161159

10

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28177126

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