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Items: 1 to 20 of 102

1.

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
2.

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
3.

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
4.

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
5.

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.

6.

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.

7.

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.

8.

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
9.

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
10.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H.

Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9.

11.

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
12.

Early-onset sensorineural hearing loss is a prominent feature of H syndrome.

Ramot Y, Sayama K, Sheffer R, Doviner V, Hiller N, Kaufmann-Yehezkely M, Zlotogorski A.

Int J Pediatr Otorhinolaryngol. 2010 Jul;74(7):825-7. doi: 10.1016/j.ijporl.2010.03.053.

PMID:
20399510
13.
14.

Perrault syndrome with Marfanoid habitus in two siblings.

Jacob JJ, Paul TV, Mathews SS, Thomas N.

J Pediatr Adolesc Gynecol. 2007 Oct;20(5):305-8.

PMID:
17868898
15.

CHARGE syndrome: a window of opportunity for audiologic intervention.

Edwards BM, Kileny PR, Van Riper LA.

Pediatrics. 2002 Jul;110(1 Pt 1):119-26.

PMID:
12093956
16.

Genetics and hearing loss: a review of Stickler syndrome.

Nowak CB.

J Commun Disord. 1998 Sep-Oct;31(5):437-53; 453-4. Review.

PMID:
9777489
17.

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
18.

Electromyography (EMG) accuracy compared to muscle biopsy in childhood.

Rabie M, Jossiphov J, Nevo Y.

J Child Neurol. 2007 Jul;22(7):803-8.

PMID:
17715269
19.

Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers.

Challa S, Kanikannan MA, Murthy JM, Bhoompally VR, Surath M.

Neurol India. 2004 Sep;52(3):353-8.

20.

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

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