Výsledky vyhledávání - "leukoencephalopathy with calcifications and cysts"

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Přispěvatelé: Adeline Vanderver, MD, Program Director, Leukodystrophy Center

Zdroj: LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov;15(6):319-28. doi: 10.1097/NRL.0b013e3181b287c8.
Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010 Aug 24;75(8):718-25. doi: 10.1212/WNL.0b013e3181eee46b. Epub 2010 Jul 21.
Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol. 2012 Dec;19(4):219-23. doi: 10.1016/j.spen.2012.10.001.
Richards J, Korgenski EK, Srivastava R, Bonkowsky JL. Costs of the diagnostic odyssey in children with inherited leukodystrophies. Neurology. 2015 Sep 29;85(13):1167-70. doi: 10.1212/WNL.0000000000001974. Epub 2015 Aug 28.
Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031.
Srivastava S, Cohen JS, Vernon H, Baranano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9.
Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.
Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9.

The Myelin Disorders Biorepository Project (MDBP)

Autoři: National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) National Center for Advancing Translational Sciences (NCATS) a další

Přispěvatelé: National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) National Center for Advancing Translational Sciences (NCATS) a další

Zdroj: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20.

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Autoři: National Ataxia Foundation International WAGR Syndrome Association 4p- Support Group a další

Zdroj: Coordination of Rare Diseases at Sanford

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

Autoři: Kazuo Kodama Hiromi Aoyama Yoshimi Murakami a další

Zdroj: Radiol Case Rep
Radiology Case Reports, Vol 18, Iss 3, Pp 1217-1220 (2023)

Témata: 0301 basic medicine, SNORD118, Medical physics. Medical radiology. Nuclear medicine, 03 medical and health sciences, 0302 clinical medicine, Cerebroretinal microangiopathy with calcification and cysts (CRMCC), R895-920, Case Report, Leukoencephalopathy with calcifications and cysts (LCC), 3. Good health

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36660574
https://doaj.org/article/b22a1a9a07024e1ead5eaf1d2c102d44

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review

Autoři: Stefania Della Vecchia Alessandra Tessa Rosa Pasquariello a další

Zdroj: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2864 (2024)

Témata: heterozygous NOTCH1 mutation, leukoencephalopathy with calcifications and cysts, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/5/2864; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/4d67b7220736480294da3c5d74b30253

Dostupnost: https://doi.org/10.3390/ijms25052864
https://doaj.org/article/4d67b7220736480294da3c5d74b30253

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum: Genetic and phenotypic spectrum

Autoři: Elizabeth Jones Renaud Touraine Imelda Hughes a další

Přispěvatelé: Elizabeth Jones Renaud Touraine Imelda Hughes a další

Zdroj: Crow, Y J, Marshall, H, Rice, G I, Seabra, L, Jenkinson, E M, Baranano, K, Battini, R, Berger, A, Blair, E, Blauwblomme, T, Bolduc, F, Boddaert, N, Buckard, J, Burnett, H, Calvert, S, Caumes, R, Ng, A C-H, Chiang, D, Clifford, D B, Cordelli, D M, de Burca, A, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, S R, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Karimiani, E G, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, H T, Hughes, I, Jacob, A, Jones, E A, Kumar, R, Leventer, R J, MacDonald, S, Maroofian, R, Mehta, S G, 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, C A, Subramanian, G M, Talbot, K, Thomas, R H, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, J H, O'Keefe, R T & Badrock, A P 2020, 'Leukoencephalopathy with calcifications and cysts : Genetic and phenotypic spectrum', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.61907

Témata: Adult, Male, 0301 basic medicine, Heterozygote, Adolescent, ribosomopathy, SNORD118, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Animals, Humans, RNA, Small Nucleolar, Pathology, Molecular, Child, Genetic Association Studies, Aged, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, Infant, Newborn, Calcinosis, Infant, Middle Aged, 3. Good health, Disease Models, Animal, Child, Preschool, Female

Popis souboru: application/pdf

Přístupová URL adresa: http://minerva-access.unimelb.edu.au/bitstream/11343/276417/1/10.1002-ajmg.a.61907.pdf
https://pubmed.ncbi.nlm.nih.gov/33029936
https://www.research.manchester.ac.uk/portal/en/publications/leukoencephalopathy-with-calcifications-and-cysts(d6cc6915-be91-4ed3-b0ee-a028f09f6810).html
https://findanexpert.unimelb.edu.au/scholarlywork/1467849-leukoencephalopathy-with-calcifications-and-cysts--genetic-and-phenotypic-spectrum
https://www.ndcn.ox.ac.uk/publications/1137933
https://minerva-access.unimelb.edu.au/handle/11343/276417
https://pubmed.ncbi.nlm.nih.gov/33029936/
https://www.neuroscience.ox.ac.uk/publications/1137933
https://resolver.sub.uni-goettingen.de/purl?gro-2/84206
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.61907
https://doi.org/10.1002/ajmg.a.61907
https://hdl.handle.net/11568/1070985
https://hdl.handle.net/11585/786787
https://doi.org/10.1002/ajmg.a.61907
https://discovery-pp.ucl.ac.uk/id/eprint/10146422/

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

Autoři: Siobhan Crilly Denis L. J. Lafontaine Ludivine Wacheul a další

Zdroj: American journal of human genetics, 106 (5
Badrock, A P, Uggenti, C, Wacheul, L, Crilly, S, Jenkinson, E M, Rice, G I, Kasher, P R, Lafontaine, D L J, Crow, Y J & O'Keefe, R T 2020, ' Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts ', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706 . https://doi.org/10.1016/j.ajhg.2020.04.003
Badrock, A, Uggenti, C, Wacheul, L, Crilly, S, Jenkinson, E, Rice, G, Kasher, P, Lafontaine, D, Crow, Y & O'Keefe, R 2020, 'Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706. https://doi.org/10.1016/j.ajhg.2020.04.003

Témata: 0301 basic medicine, Génétique clinique, Embryonic Development, ribosomopathy, snoRNA, SNORD118, U8 snoRNA, 03 medical and health sciences, Leukoencephalopathies, Zebrafish Proteins/genetics, Embryonic Development/genetics, Small Nucleolar/genetics, Animals, Humans, RNA, Small Nucleolar, Central Nervous System Cysts/genetics, Central Nervous System Cysts, Alleles, Conserved Sequence, Zebrafish, 0303 health sciences, Leukoencephalopathies/genetics, Base Sequence, Animal, Cysts, Calcinosis/genetics, Cysts/genetics, Calcinosis, Zebrafish Proteins, zebrafish, 3. Good health, Disease Models, Animal, Disease Models, Mutation, RNA, Tumor Suppressor Protein p53/genetics, Zebrafish/embryology, Labrune syndrome, Tumor Suppressor Protein p53, Biologie, RNA, Small Nucleolar/genetics, leukoencephalopathy with calcifications and cysts

Popis souboru: 1 full-text file(s): application/pdf; application/octet-stream; application/pdf

Přístupová URL adresa: http://www.cell.com/article/S0002929720301129/pdf
https://pubmed.ncbi.nlm.nih.gov/32359472
https://research.manchester.ac.uk/en/publications/cf6ab27e-3ac6-4fc6-bd3b-aea378e05417
https://doi.org/10.1016/j.ajhg.2020.04.003
https://www.sciencedirect.com/science/article/pii/S0002929720301129
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212298
https://www.research.manchester.ac.uk/portal/en/publications/analysis-of-u8-snorna-variants-in-zebrafish-reveals-how-biallelic-variants-cause-leukoencephalopathy-with-calcifications-and-cysts(cf6ab27e-3ac6-4fc6-bd3b-aea378e05417).html
https://pubmed.ncbi.nlm.nih.gov/32359472/
https://www.ncbi.nlm.nih.gov/pubmed/32359472
https://www.cell.com/ajhg/fulltext/S0002-9297(20)30112-9
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307345
https://hdl.handle.net/20.500.11820/97a46b3b-bad9-48c1-98d3-eee1326b8a59
https://www.pure.ed.ac.uk/ws/files/142014222/BW1OWN_O
https://pure.manchester.ac.uk/ws/files/162365839/Badrock_et_al_AJHG_revision_final_changes_accepted_for_PURE.pdf
https://research.manchester.ac.uk/en/publications/cf6ab27e-3ac6-4fc6-bd3b-aea378e05417
https://doi.org/10.1016/j.ajhg.2020.04.003

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Autoři: Crow, Yanick J Marshall, Heather Rice, Gillian a další

Zdroj: American Journal of Medical Genetics Part A , 185 (1) pp. 15-25. (2021)

Témata: C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, ribosomopathy, SNORD118

Popis souboru: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10146422/

Dostupnost: https://discovery.ucl.ac.uk/id/eprint/10146422/1/10.1002-ajmg.a.61907.pdf
https://discovery.ucl.ac.uk/id/eprint/10146422/

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts

Autoři: Badrock, Andrew P Uggenti, Carolina Wacheul, Ludivine a další

Zdroj: American journal of human genetics, 106 (5

Témata: Biologie, Génétique clinique, Labrune syndrome, leukoencephalopathy with calcifications and cysts, ribosomopathy, SNORD118, snoRNA, U8 snoRNA, zebrafish

Popis souboru: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1016/j.ajhg.2020.04.003; uri/info:pii/S0002929720301129; uri/info:pmid/32359472; uri/info:scp/85084117131; https://dipot.ulb.ac.be/dspace/bitstream/2013/307345/3/Badrock2020.pdf

Dostupnost: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/307345
https://dipot.ulb.ac.be/dspace/bitstream/2013/307345/3/Badrock2020.pdf

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Autoři: Crow, Yanick Briggs, T. A. Abdel-Salam, G. M H a další

Zdroj: Briggs, T A, Abdel-Salam, G, Balicki, M, Baxter, P, Bertini, E, Bishop, N, Browne, B H, Chitayat, D, Chong, W K, Eid, M M, Halliday, W, Hughes, I, Klusmann-Koy, A, Kurian, M, Nischal, K K, Rice, G I, Stephenson, J B P, Surtees, R, Talbot, J F, Tehrani, N N, Tolmie, J L, Toomes, C, van der Knaap, M S & Crow, Y J 2008, 'Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)', American Journal of Medical Genetics Part A, vol. 146A, no. 2, pp. 182-190. https://doi.org/10.1002/ajmg.a.32080
Crow, Y, Briggs, T A, Abdel-Salam, G M H, Balicki, M, Baxter, P, Bertini, E, Bishop, N, Browne, B H, Chitayat, D, Chong, W K, Eid, M M, Halliday, W, Hughes, I, Klusmann-Koy, A, Kurian, M, Nischal, K K, Rice, G I, Stephenson, J B P, Surtees, R, Talbot, J F, Tehrani, N N, Tolmie, J L, Toomes, C, Van Der Knaap, M S & Crow, Y J 2008, 'Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC)', American Journal of Medical Genetics, Part A, vol. 146, no. 2, pp. 182-190. https://doi.org/10.1002/ajmg.a.32080

Témata: Male, Adolescent, Cysts, Calcinosis, Infant, Leukodystrophy, Leukoencephalopathy with calcifications and cysts, Exudative retinopathy, Cerebrovascular Disorders, 03 medical and health sciences, Labrune, Phenotype, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Intracerebral cysts, Retinal Diseases, Child, Preschool, Humans, Coats, Female, Telangiectasis, Intracranial calcification, Child

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/18076099
https://research.manchester.ac.uk/en/publications/54d9a4b5-27f3-4a40-8589-4b5bf22a57c4
https://doi.org/10.1002/ajmg.a.32080
https://hdl.handle.net/1871.1/0b015054-dd8d-429d-b914-b550ca7ed9cf
https://research.vu.nl/en/publications/0b015054-dd8d-429d-b914-b550ca7ed9cf
https://doi.org/10.1002/ajmg.a.32080
http://discovery.ucl.ac.uk/179331/
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32080
https://www.narcis.nl/publication/RecordID/oai%3Aresearch.vu.nl%3Apublications%2F0b015054-dd8d-429d-b914-b550ca7ed9cf
http://www.ncbi.nlm.nih.gov/pubmed/18076099
https://moh-it.pure.elsevier.com/en/publications/cerebroretinal-microangiopathy-with-calcifications-and-cysts-crmc
https://researchinformation.amsterdamumc.org/en/publications/cerebroretinal-microangiopathy-with-calcifications-and-cysts-crmc
https://research.vumc.nl/en/publications/7debf067-ea50-46a5-9a4a-a735df1f86ac

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Autoři: Crow, Yanick J. Marshall, Heather Bolduc, Francois a další

Přispěvatelé: Crow, Yanick J. Marshall, Heather Bolduc, Francois a další

Témata: C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, ribosomopathy, SNORD118

Relation: American Journal of Medical Genetics, Part A Vol. 185, Issue 1, p. 15-25; http://hdl.handle.net/1959.13/1476776; uon:49856

Dostupnost: http://hdl.handle.net/1959.13/1476776

Leukoencephalopathy with calcifications and cysts: genetic and phenotypic spectrum

Autoři: Crow, Yanick J. Marshall, Heather Rice, Gillian I. a další

Přispěvatelé: Crow, Yanick J. Marshall, Heather Rice, Gillian I. a další

Témata: coats plus, D box snoRNA U8, Labrune syndrome, ribosomopathy, leukoencephalopathy with calcifications and cysts, SNORD118

Relation: American journal of medical genetics. Part A; Am. J. Med. Genet. A; http://hdl.handle.net/20.500.12210/55463

Dostupnost: https://hdl.handle.net/20.500.12210/55463

Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening?

Autoři: Pessoa A; Hospital Infantil Albert Sabin, Universidade estadual do Ceará, Fortaleza, Ceará, Brazil.

Zdroj: European journal of neurology [Eur J Neurol] 2018 Aug; Vol. 25 (8), pp. e88-e90.

Způsob vydávání: Letter; Comment

Informace o časopise: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: PubMed not MEDLINE

Adult-Onset Leukoencephalopathy with Calcifications and Cysts: Focusing on Hemorrhagic Propensity and Cysts Development.

Autoři: Li Z Han K Yao W a další

Zdroj: World neurosurgery [World Neurosurg] 2016 Jan; Vol. 85, pp. 366.e9-13. Date of Electronic Publication: 2015 Sep 25.

Způsob vydávání: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

Informace o časopise: Publisher: Elsevier Country of Publication: United States NLM ID: 101528275 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-8769 (Electronic) Linking ISSN: 18788750 NLM ISO Abbreviation: World Neurosurg Subsets: MEDLINE

Výrazy ze slovníku MeSH: Calcinosis/*diagnosis , Cerebral Hemorrhage/*etiology , Cysts/*etiology , Leukoencephalopathies/*pathology , Leukoencephalopathies/*surgery, Adult ; Age of Onset ; Aged ; Calcinosis/etiology ; Female ; Humans ; Leukoencephalopathies/complications ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Sex Factors ; Tomography, X-Ray Computed