Literature DB >> 23838600

Clinical utility gene card for: Vici Syndrome.

Thomas Cullup1, Carlo Dionisi-Vici2, Ay L Kho3, Shu Yau1, Shehla Mohammed4, Mathias Gautel3, Heinz Jungbluth5.   

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Year:  2013        PMID： 23838600      PMCID： PMC3925270          DOI： 10.1038/ejhg.2013.142

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  12 in total

1.  Vici syndrome associated with unilateral lung hypoplasia and myopathy.

Authors:  Mohammed Al-Owain; Amal Al-Hashem; Mohammed Al-Muhaizea; Hani Humaidan; Hindi Al-Hindi; Iftetah Al-Homoud; Ibrahim Al-Mogarri
Journal:  Am J Med Genet A       Date:  2010-07       Impact factor: 2.802

Review 2.  Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis.

Authors:  Rie Miyata; Masaharu Hayashi; Hiroyuki Sato; Yuji Sugawara; Takako Yui; Satoshi Araki; Takeshi Hasegawa; Shozaburo Doi; Jun Kohyama
Journal:  Am J Med Genet A       Date:  2007-01-15       Impact factor: 2.802

3.  Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

Authors:  Sian Ellard; Beverley Shields; Carolyn Tysoe; Rebecca Treacy; Shu Yau; Christopher Mattocks; Andrew Wallace
Journal:  Genet Test Mol Biomarkers       Date:  2009-06

4.  Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Authors:  C Dionisi Vici; G Sabetta; M Gambarara; F Vigevano; E Bertini; R Boldrini; S G Parisi; I Quinti; F Aiuti; M Fiorilli
Journal:  Am J Med Genet       Date:  1988-01

5.  Immunodeficiency in Vici syndrome: a heterogeneous phenotype.

Authors:  Andrea Finocchi; Giulia Angelino; Nicoletta Cantarutti; Maurizio Corbari; Elsa Bevivino; Simona Cascioli; Francesco Randisi; Enrico Bertini; Carlo Dionisi-Vici
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

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

Authors:  Verity McClelland; Thomas Cullup; Istvan Bodi; Deborah Ruddy; Anna Buj-Bello; Valerie Biancalana; J Boehm; Marc Bitoun; Owen Miller; Wajanat Jan; Esse Menson; Luis Amaya; John Trounce; Jocelyn Laporte; Shehla Mohammed; Caroline Sewry; Julian Raiman; Heinz Jungbluth
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

Review 7.  Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.

Authors:  M del Campo; B D Hall; A Aeby; M C Nassogne; A Verloes; C Roche; C Gonzalez; H Sanchez; A Garcia-Alix; F Cabanas; R M Escudero; R Hernandez; J Quero
Journal:  Am J Med Genet       Date:  1999-08-27

Review 8.  Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.

Authors:  Tomohiro Chiyonobu; Takao Yoshihara; Yoko Fukushima; Yasutoshi Yamamoto; Kentaro Tsunamoto; Yasutaka Nishimura; Hiroyuki Ishida; Tatsushi Toda; Yasuo Kasubuchi
Journal:  Am J Med Genet       Date:  2002-04-15

Review 9.  Vici syndrome associated with sensorineural hearing loss and laryngomalacia.

Authors:  Murat Ozkale; Ilknur Erol; Ayten Gümüş; Yasemin Ozkale; Füsun Alehan
Journal:  Pediatr Neurol       Date:  2012-11       Impact factor: 3.372

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

Authors:  R Curtis Rogers; Bridgette Aufmuth; Stephanie Monesson
Journal:  Case Rep Genet       Date:  2011-06-22
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  5 in total

1.  Non-parametric Survival Analysis of EPG5 Gene with Age at Onset of Alzheimer's Disease.

Authors:  Ke-Sheng Wang; Xuefeng Liu; Changchun Xie; Ying Liu; Chun Xu
Journal:  J Mol Neurosci       Date:  2016-09-01       Impact factor: 3.444

Review 2.  Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Lara Wahlster; Jenny Lu; Susan Byrne; Georg F Hoffmann; Heinz Jungbluth; Mustafa Sahin
Journal:  Brain       Date:  2015-12-29       Impact factor: 13.501

3.  Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice.

Authors:  Sonia R Singh; Antonia T L Zech; Birgit Geertz; Silke Reischmann-Düsener; Hanna Osinska; Maksymilian Prondzynski; Elisabeth Krämer; Qinghang Meng; Charles Redwood; Jolanda van der Velden; Jeffrey Robbins; Saskia Schlossarek; Lucie Carrier
Journal:  Circ Heart Fail       Date:  2017-10       Impact factor: 8.790

4.  A Saudi Infant with Vici Syndrome: Case Report and Literature Review.

Authors:  Alhussain Alzahrani; Abdulrahman Abdullah Alghamdi; Rahaf Waggass
Journal:  Open Access Maced J Med Sci       Date:  2018-06-13

Review 5.  Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

Authors:  Kamal T Abidi; Naglaa M Kamal; Ayman A Bakkar; Saad Almarri; Rehab Abdullah; Maram Alsufyani; Arwa Alharbi
Journal:  Medicine (Baltimore)       Date:  2020-10-23       Impact factor: 1.817
  5 in total

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