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Items: 1 to 20 of 115

1.

Vici syndrome associated with sensorineural hearing loss and laryngomalacia.

Ozkale M, Erol I, Gümüş A, Ozkale Y, Alehan F.

Pediatr Neurol. 2012 Nov;47(5):375-8. doi: 10.1016/j.pediatrneurol.2012.07.007. Review.

PMID:
23044023
2.

Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature.

Huenerberg K, Hudspeth M, Bergmann S, Pai S, Singh B, Duong A.

Am J Med Genet A. 2016 May;170A(5):1343-6. doi: 10.1002/ajmg.a.37589. Epub 2016 Feb 7.

PMID:
26854214
3.

Ophthalmologic features of Vici syndrome.

Filloux FM, Hoffman RO, Viskochil DH, Jungbluth H, Creel DJ.

J Pediatr Ophthalmol Strabismus. 2014 Jul 1;51(4):214-20. doi: 10.3928/01913913-20140423-02. Epub 2014 Apr 30.

PMID:
24779424
4.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.

McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H.

Am J Med Genet A. 2010 Mar;152A(3):741-7. doi: 10.1002/ajmg.a.33296.

PMID:
20186778
5.

Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.

Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasubuchi Y.

Am J Med Genet. 2002 Apr 15;109(1):61-6. Review.

PMID:
11932994
6.

Severe Central Sleep Apnea in Vici Syndrome.

El-Kersh K, Jungbluth H, Gringras P, Senthilvel E.

Pediatrics. 2015 Nov;136(5):e1390-4. doi: 10.1542/peds.2015-0297. Epub 2015 Oct 19.

7.

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN.

Am J Med Genet A. 2014 Dec;164A(12):3170-5. doi: 10.1002/ajmg.a.36772. Epub 2014 Oct 20. Review.

PMID:
25331754
8.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

9.

Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.

Said E, Soler D, Sewry C.

Am J Med Genet A. 2012 Feb;158A(2):440-4. doi: 10.1002/ajmg.a.34273. Epub 2011 Sep 30.

PMID:
21964879
10.

Vici syndrome in siblings born to consanguineous parents.

Tasdemir S, Sahin I, Cayır A, Yuce I, Ceylaner S, Tatar A.

Am J Med Genet A. 2016 Jan;170A(1):220-5. doi: 10.1002/ajmg.a.37398. Epub 2015 Sep 23. Review.

PMID:
26395118
11.

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.

del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J.

Am J Med Genet. 1999 Aug 27;85(5):479-85. Review.

PMID:
10405446
12.

Immunodeficiency in Vici syndrome: a heterogeneous phenotype.

Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, Randisi F, Bertini E, Dionisi-Vici C.

Am J Med Genet A. 2012 Feb;158A(2):434-9. doi: 10.1002/ajmg.a.34244. Epub 2011 Sep 30.

PMID:
21965116
13.
14.

Alport syndrome.

Karki P, Shrestha JK.

Nepal J Ophthalmol. 2009 Jul-Dec;1(2):139-40.

PMID:
21141008
15.

Clinical utility gene card for: Vici Syndrome.

Cullup T, Dionisi-Vici C, Kho AL, Yau S, Mohammed S, Gautel M, Jungbluth H.

Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.142. Epub 2013 Jul 10. No abstract available.

16.

Prenatal diagnosis of Chudley-McCullough syndrome.

Chapman T, Perez FA, Ishak GE, Doherty D.

Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17.

PMID:
27312216
17.

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.

Balasubramaniam S, Riley LG, Vasudevan A, Cowley MJ, Gayevskiy V, Sue CM, Edwards C, Edkins E, Junckerstorff R, Kiraly-Borri C, Rowe P, Christodoulou J.

JIMD Rep. 2017 Nov 21. doi: 10.1007/8904_2017_71. [Epub ahead of print]

PMID:
29159459
18.

Vici syndrome: a review.

Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H.

Orphanet J Rare Dis. 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. Review.

19.

Cataract, hearing loss and hypercholesterolemia.

Nucci P, Mets MB.

Acta Ophthalmol (Copenh). 1990 Dec;68(6):739-42.

PMID:
2080709
20.

Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability.

Rogers RC, Aufmuth B, Monesson S.

Case Rep Genet. 2011;2011:421582. doi: 10.1155/2011/421582. Epub 2011 Jun 22.

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