BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 31521395)

  • 1. 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]  

  • 2. 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]  

  • 3. [Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases].
    Jin H; Wu HS; Ding CH; Jin Z; Huang Y; Zhou CJ; Zhang WH; Lyu JL; Dai LF; Ren XT; Ge M; Fang F
    Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):539-544. PubMed ID: 29996189
    [No 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: 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]  

  • 6. 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]  

  • 7. Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description.
    Helman G; Viaene AN; Takanohashi A; Breur M; Berger R; Woidill S; Cottrell JR; Schiffmann R; Crow YJ; Simons C; Bugiani M; Vanderver A
    J Child Neurol; 2021 Feb; 36(2):133-140. PubMed ID: 32988269
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 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. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
    Livingston JH; Mayer J; Jenkinson E; Kasher P; Stivaros S; Berger A; Cordelli DM; Ferreira P; Jefferson R; Kutschke G; Lundberg S; Ounap K; Prabhakar P; Soh C; Stewart H; Stone J; van der Knaap MS; van Esch H; van Mol C; Wakeling E; Whitney A; Rice GI; Crow YJ
    Neuropediatrics; 2014 Jun; 45(3):175-82. PubMed ID: 24407470
    [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. Adult cases of leukoencephalopathy, cerebral calcifications, and cysts: expanding the spectrum of the disorder.
    Kleinschmidt-Demasters BK; Cummings TJ; Hulette CM; Morgenlander JC; Corboy JR
    J Neuropathol Exp Neurol; 2009 Apr; 68(4):432-9. PubMed ID: 19287308
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature.
    Stephani C; Pfeifenbring S; Mohr A; Stadelmann C
    BMC Neurol; 2016 Feb; 16():19. PubMed ID: 26852234
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Leukoencephalopathy with cerebral calcifications and cysts: clinical and pathological features in two adults.
    Liu X; Zheng X; Sui Q; Xu W; Zee CS
    Acta Neurol Belg; 2016 Mar; 116(1):47-52. PubMed ID: 26123129
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.