Literature DB >> 18627054

An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.

Toni Pearson1, Fiona Curtis, Ayman Al-Eyadhy, Salem Al-Tamemi, Bruce Mazer, Yigal Dror, Sharon Abish, Sherri Bale, John Compton, Reena Ray, Patrick Scott, Vazken M Der Kaloustian.   

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Year:  2008        PMID： 18627054     DOI： 10.1002/ajmg.a.32412

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  11 in total

1.  Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies.

Authors:  M A Trudeau; J M Y Wong
Journal:  Curr Pharmacogenomics Person Med       Date:  2010-03-01

Review 2.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

3.  The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

Authors:  Xi-Lei Zeng; Naresh R Thumati; Helen B Fleisig; Kyle R Hukezalie; Sharon A Savage; Neelam Giri; Blanche P Alter; Judy M Y Wong
Journal:  Hum Mol Genet       Date:  2011-11-04       Impact factor: 6.150

Review 4.  Dyskeratosis congenita as a disorder of telomere maintenance.

Authors:  Nya D Nelson; Alison A Bertuch
Journal:  Mutat Res       Date:  2011-07-02       Impact factor: 2.433

Review 5.  Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.

Authors:  Galina Glousker; Fabien Touzot; Patrick Revy; Yehuda Tzfati; Sharon A Savage
Journal:  Br J Haematol       Date:  2015-05-04       Impact factor: 6.998

Review 6.  Primary immunodeficiency diseases associated with neurologic manifestations.

Authors:  Soodabeh Fazeli Dehkordy; Asghar Aghamohammadi; Hans D Ochs; Nima Rezaei
Journal:  J Clin Immunol       Date:  2011-10-26       Impact factor: 8.542

7.  Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins.

Authors:  Cristina Olivieri; Anna Mondino; Matteo Chinello; Alessandra Risso; Enrico Finale; Marina Lanciotti; Andrea Guala
Journal:  Pediatr Rep       Date:  2017-10-06

8.  Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.

Authors:  Qiufang Guo; Ping Zhang; Wenjing Ying; Yaqiong Wang; Jitao Zhu; Gang Li; Huijun Wang; Xiaochuan Wang; Caixia Lei; Wenhao Zhou; Jinqiao Sun; Bingbing Wu
Journal:  Mol Genet Genomic Med       Date:  2022-04-06       Impact factor: 2.473

9.  Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.

Authors:  Liqing Wang; Jianwei Li; Qiuhong Xiong; Yong-An Zhou; Ping Li; Changxin Wu
Journal:  Front Pediatr       Date:  2022-04-06       Impact factor: 3.418

Review 10.  Neurological Manifestations of Primary Immunodeficiencies.

Authors:  Zahra Chavoshzadeh; Amir Hashemitari; Sepideh Darougar
Journal:  Iran J Child Neurol       Date:  2018
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