283 related articles for article (PubMed ID: 22387016)
1. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Polvi A; Linnankivi T; Kivelä T; Herva R; Keating JP; Mäkitie O; Pareyson D; Vainionpää L; Lahtinen J; Hovatta I; Pihko H; Lehesjoki AE
Am J Hum Genet; 2012 Mar; 90(3):540-9. PubMed ID: 22387016
[TBL] [Abstract][Full Text] [Related]
2. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Sargolzaeiaval F; Zhang J; Schleit J; Lessel D; Kubisch C; Precioso DR; Sillence D; Hisama FM; Dorschner M; Martin GM; Oshima J
Mol Genet Genomic Med; 2018 Nov; 6(6):1148-1156. PubMed ID: 30393977
[TBL] [Abstract][Full Text] [Related]
3. 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
Clin Genet; 2017 Aug; 92(2):180-187. PubMed ID: 28177126
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
Netravathi M; Kumari R; Kapoor S; Dakle P; Dwivedi MK; Roy SD; Pandey P; Saini J; Ramakrishna A; Navalli D; Satishchandra P; Pal PK; Kumar A; Faruq M
BMC Med Genet; 2015 Feb; 16():5. PubMed ID: 25928698
[TBL] [Abstract][Full Text] [Related]
5. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.
Bisserbe A; Tertian G; Buffet C; Turhan A; Lambotte O; Nasser G; Alvin P; Tardieu M; Riant F; Bergametti F; Tournier-Lasserve E; Denier C
Rev Neurol (Paris); 2015 May; 171(5):445-9. PubMed ID: 25843205
[TBL] [Abstract][Full Text] [Related]
6. Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
Romaniello R; Arrigoni F; Citterio A; Tonelli A; Sforzini C; Rizzari C; Pessina M; Triulzi F; Bassi MT; Borgatti R
J Child Neurol; 2013 Dec; 28(12):1702-8. PubMed ID: 23220793
[TBL] [Abstract][Full Text] [Related]
7. Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
Gu P; Chang S
Aging Cell; 2013 Dec; 12(6):1100-9. PubMed ID: 23869908
[TBL] [Abstract][Full Text] [Related]
8. Cerebroretinal microangiopathy with calcifications and cysts: A case report.
Xu W; Zhao J; Zhu Y; Zhang W
Medicine (Baltimore); 2017 Jan; 96(1):e5545. PubMed ID: 28072696
[TBL] [Abstract][Full Text] [Related]
9. 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
Mol Genet Genomic Med; 2021 Dec; 9(12):e1708. PubMed ID: 34110109
[TBL] [Abstract][Full Text] [Related]
10. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Walne AJ; Vulliamy T; Beswick R; Kirwan M; Dokal I
Blood; 2008 Nov; 112(9):3594-600. PubMed ID: 18669893
[TBL] [Abstract][Full Text] [Related]
11. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM; Rodero MP; Kasher PR; Uggenti C; Oojageer A; Goosey LC; Rose Y; Kershaw CJ; Urquhart JE; Williams SG; Bhaskar SS; O'Sullivan J; Baerlocher GM; Haubitz M; Aubert G; Barañano KW; Barnicoat AJ; Battini R; Berger A; Blair EM; Brunstrom-Hernandez JE; Buckard JA; Cassiman DM; Caumes R; Cordelli DM; De Waele LM; Fay AJ; Ferreira P; Fletcher NA; Fryer AE; Goel H; Hemingway CA; Henneke M; Hughes I; Jefferson RJ; Kumar R; Lagae L; Landrieu PG; Lourenço CM; Malpas TJ; Mehta SG; Metz I; Naidu S; Õunap K; Panzer A; Prabhakar P; Quaghebeur G; Schiffmann R; Sherr EH; Sinnathuray KR; Soh C; Stewart HS; Stone J; Van Esch H; Van Mol CE; Vanderver A; Wakeling EL; Whitney A; Pavitt GD; Griffiths-Jones S; Rice GI; Revy P; van der Knaap MS; Livingston JH; O'Keefe RT; Crow YJ
Nat Genet; 2016 Oct; 48(10):1185-92. PubMed ID: 27571260
[TBL] [Abstract][Full Text] [Related]
12. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Savage SA; Giri N; Baerlocher GM; Orr N; Lansdorp PM; Alter BP
Am J Hum Genet; 2008 Feb; 82(2):501-9. PubMed ID: 18252230
[TBL] [Abstract][Full Text] [Related]
13. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Sasa GS; Ribes-Zamora A; Nelson ND; Bertuch AA
Clin Genet; 2012 May; 81(5):470-8. PubMed ID: 21477109
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.
Liu L; Luo H; Sheng Y; Kang X; Peng H; Luo H; Fan LL
Hereditas; 2023 Nov; 160(1):37. PubMed ID: 37978541
[TBL] [Abstract][Full Text] [Related]
15. 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
Horm Res Paediatr; 2021; 94(11-12):448-455. PubMed ID: 34706368
[TBL] [Abstract][Full Text] [Related]
16. Leukoencephalopathy, cerebral calcifications and cysts: a family study.
Karlinger K; Tárnoki ÁD; Tárnoki DL; Polvi A; Lehesjoki AE; Kelemen A; Szegedi L; Turányi E; Kamondi A; Szűcs A
J Neurol; 2014 Oct; 261(10):1911-6. PubMed ID: 25034270
[TBL] [Abstract][Full Text] [Related]
17. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH; Kasher PR; Mayer J; Szynkiewicz M; Jenkinson EM; Bhaskar SS; Urquhart JE; Daly SB; Dickerson JE; O'Sullivan J; Leibundgut EO; Muter J; Abdel-Salem GM; Babul-Hirji R; Baxter P; Berger A; Bonafé L; Brunstom-Hernandez JE; Buckard JA; Chitayat D; Chong WK; Cordelli DM; Ferreira P; Fluss J; Forrest EH; Franzoni E; Garone C; Hammans SR; Houge G; Hughes I; Jacquemont S; Jeannet PY; Jefferson RJ; Kumar R; Kutschke G; Lundberg S; Lourenço CM; Mehta R; Naidu S; Nischal KK; Nunes L; Ounap K; Philippart M; Prabhakar P; Risen SR; Schiffmann R; Soh C; Stephenson JB; Stewart H; Stone J; Tolmie JL; van der Knaap MS; Vieira JP; Vilain CN; Wakeling EL; Wermenbol V; Whitney A; Lovell SC; Meyer S; Livingston JH; Baerlocher GM; Black GC; Rice GI; Crow YJ
Nat Genet; 2012 Jan; 44(3):338-42. PubMed ID: 22267198
[TBL] [Abstract][Full Text] [Related]
18. Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Vulliamy T; Beswick R; Kirwan MJ; Hossain U; Walne AJ; Dokal I
Clin Genet; 2012 Jan; 81(1):76-81. PubMed ID: 21199492
[TBL] [Abstract][Full Text] [Related]
19. Molecular basis of telomere syndrome caused by CTC1 mutations.
Chen LY; Majerská J; Lingner J
Genes Dev; 2013 Oct; 27(19):2099-108. PubMed ID: 24115768
[TBL] [Abstract][Full Text] [Related]
20. CTC1 Mutations in a patient with dyskeratosis congenita.
Keller RB; Gagne KE; Usmani GN; Asdourian GK; Williams DA; Hofmann I; Agarwal S
Pediatr Blood Cancer; 2012 Aug; 59(2):311-4. PubMed ID: 22532422
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
