608 related articles for article (PubMed ID: 25928698)
21. Coats plus syndrome: a rare cause of severe gastrointestinal tract bleeding in children - a case report.
Bozkurt S; Usta AM; Urganci N; Kalay NG; Kose G; Ozmen E
BMC Pediatr; 2022 Mar; 22(1):119. PubMed ID: 35260125
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.
Peene G; Smets E; Legius E; Cassiman C
Ophthalmic Genet; 2018 Apr; 39(2):247-250. PubMed ID: 29161159
[TBL] [Abstract][Full Text] [Related]
25. Progressive cerebroretinal microangiopathy with calcifications and cysts syndrome: an unusual cause of complex partial seizure.
Dusak A; Seferoğlu M; Hakyemez B; Bora I; Parlak M
Psychiatry Clin Neurosci; 2012 Aug; 66(5):460. PubMed ID: 22834668
[No Abstract] [Full Text] [Related]
26. [Coats Plus: Coats disease with systemic features].
Troumani Y; Ackermann F; Cohen S; Touhami S; Nasser G; Denier C; Labetoulle M; Rousseau A
J Fr Ophtalmol; 2016 Sep; 39(7):e167-70. PubMed ID: 27546161
[No Abstract] [Full Text] [Related]
27. Patient-Derived iPSCs Reveal Evidence of Telomere Instability and DNA Repair Deficiency in Coats Plus Syndrome.
Oudrhiri N; M'kacher R; Chaker D; Colicchio B; Borie C; Jeandidier E; Dieterlen A; Griscelli F; Bennaceur-Griscelli A; Turhan AG
Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011306
[TBL] [Abstract][Full Text] [Related]
28. Retinopathy and bone marrow failure revealing Coats plus syndrome.
Painho T; Conceição C; Kjöllerström P; Batalha S
BMJ Case Rep; 2018 Mar; 2018():. PubMed ID: 29523622
[No Abstract] [Full Text] [Related]
29. 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]
30. [Neuroimaging findings in cerebroretinal microangiopathy with calcifications and cysts].
Herrera DA; Vargas SA; Montoya C
Biomedica; 2014; 34(2):166-70. PubMed ID: 24967922
[TBL] [Abstract][Full Text] [Related]
31. Coats plus in prematurity.
López-Cañizares A; Fernandez MP; Al-Khersan H; Carletti P; Arroyo MS; Fernandez-Ruiz MC; Berrocal AM
Ophthalmic Genet; 2022 Aug; 43(4):543-549. PubMed ID: 35416114
[TBL] [Abstract][Full Text] [Related]
32. Coats plus syndrome (cerebroretinal microangiopathy with calcifications and cysts-1): A case report.
Morgado F; Batista M; Moreno A; Coutinho I
Pediatr Dermatol; 2021 Jan; 38(1):191-193. PubMed ID: 33010065
[TBL] [Abstract][Full Text] [Related]
33. Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
Sparrow DB; Faqeih EA; Sallout B; Alswaid A; Ababneh F; Al-Sayed M; Rukban H; Eyaid WM; Kageyama R; Ellard S; Turnpenny PD; Dunwoodie SL
Am J Med Genet A; 2013 Sep; 161A(9):2244-9. PubMed ID: 23897666
[TBL] [Abstract][Full Text] [Related]
34. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
Khalifa M; Naffaa L
Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Coats-plus syndrome: when imaging leads to genetic diagnosis.
Maia C; Batista M; Palavra F; Pinto J
BMJ Case Rep; 2022 May; 15(5):. PubMed ID: 35580952
[No Abstract] [Full Text] [Related]
37. Coats Plus syndrome: a diagnostic and therapeutic challenge in pediatric gastrointestinal hemorrhage.
Hoşnut FÖ; Şahin G; Akçaboy M
Turk J Pediatr; 2022; 64(1):166-170. PubMed ID: 35286046
[TBL] [Abstract][Full Text] [Related]
38. A case of late-onset leukoencephalopathy, calcifications, and cysts presenting with intracerebral hemorrhage resembling a neoplasm.
Banks GP; Weiss SA; Pisapia D; Willey JZ
Cerebrovasc Dis; 2013; 35(4):396-7. PubMed ID: 23635489
[No Abstract] [Full Text] [Related]
39. 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]
40. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.
Gorospe JR; Singhal BS; Kainu T; Wu F; Stephan D; Trent J; Hoffman EP; Naidu S
Neurology; 2004 Mar; 62(6):878-82. PubMed ID: 15037685
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]