These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
217 related articles for article (PubMed ID: 28177126)
1. 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]
2. Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts. Badrock AP; Uggenti C; Wacheul L; Crilly S; Jenkinson EM; Rice GI; Kasher PR; Lafontaine DLJ; Crow YJ; O'Keefe RT Am J Hum Genet; 2020 May; 106(5):694-706. PubMed ID: 32359472 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Crow YJ; Marshall H; Rice GI; Seabra L; Jenkinson EM; Baranano K; Battini R; Berger A; Blair E; Blauwblomme T; Bolduc F; Boddaert N; Buckard J; Burnett H; Calvert S; Caumes R; Ng AC; Chiang D; Clifford DB; Cordelli DM; de Burca A; Demic N; Desguerre I; De Waele L; Di Fonzo A; Dunham SR; Dyack S; Elmslie F; Ferrand M; Fisher G; Karimiani EG; Ghoumid J; Gibbon F; Goel H; Hilmarsen HT; Hughes I; Jacob A; Jones EA; Kumar R; Leventer RJ; MacDonald S; Maroofian R; Mehta SG; Metz I; Monfrini E; Neumann D; Noetzel M; O'Driscoll M; Õunap K; Panzer A; Parikh S; Prabhakar P; Ramond F; Sandford R; Saneto R; Soh C; Stutterd CA; Subramanian GM; Talbot K; Thomas RH; Toro C; Touraine R; Wakeling E; Wassmer E; Whitney A; Livingston JH; O'Keefe RT; Badrock AP Am J Med Genet A; 2021 Jan; 185(1):15-25. PubMed ID: 33029936 [TBL] [Abstract][Full Text] [Related]
5. Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. Osman O; Labrune P; Reiner P; Sarov M; Nasser G; Riant F; Tournier-Lasserve E; Chabriat H; Denier C Rev Neurol (Paris); 2020 Mar; 176(3):170-179. PubMed ID: 31521395 [TBL] [Abstract][Full Text] [Related]
6. Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation. Cullinane PW; Lynch SA; Marnane M J Mol Neurosci; 2020 Sep; 70(9):1354-1356. PubMed ID: 32361877 [TBL] [Abstract][Full Text] [Related]
7. Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118. Livingston JH; Crow YJ J Neurol Sci; 2017 Jan; 372():443. PubMed ID: 27793341 [No Abstract] [Full Text] [Related]
8. A brother and sister with intellectual disability and characteristic neuroimaging findings. Hermens M; van der Knaap MS; Kamsteeg EJ; Willemsen MA Eur J Paediatr Neurol; 2018 Sep; 22(5):866-869. PubMed ID: 29970281 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus. Shtaya A; Elmslie F; Crow Y; Hettige S World Neurosurg; 2019 May; 125():271-272. PubMed ID: 30794980 [TBL] [Abstract][Full Text] [Related]
11. Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome. Lin H; Gong L; Zhan S; Wang Y; Liu A J Neurol Sci; 2017 Nov; 382():142-145. PubMed ID: 29111009 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene. Bonomo G; Monfrini E; Borellini L; Bonomo R; Arienti F; Saetti MC; Di Fonzo A; Locatelli M Eur J Neurol; 2020 Nov; 27(11):2329-2332. PubMed ID: 32400930 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Leukoencephalopathy with calcifications and cysts: A case report with literature review. Li J; Li C; Zhang Q; Qiu C Neurol Sci; 2023 Aug; 44(8):2715-2729. PubMed ID: 37004603 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease. Paff M; Samuel N; Alsafwani N; Paul D; Diamandis P; Climans SA; Kucharczyk W; Ding MYR; Gao AF; Lozano AM BMC Neurol; 2022 Jan; 22(1):10. PubMed ID: 34986804 [TBL] [Abstract][Full Text] [Related]
19. Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review. Murphy S; Grima G; Mankad K; Aquilina K Childs Nerv Syst; 2022 Mar; 38(3):643-648. PubMed ID: 34018027 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]