Literature DB >> 14569125

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.

T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam.   

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Year:  2003        PMID： 14569125      PMCID： PMC1735290          DOI： 10.1136/jmg.40.10.761

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  6 in total

1.  Hand and foot abnormalities associated with genetic diseases.

Authors:  Henry J Mankin; Jesse Jupiter; Carol Ann Trahan
Journal:  Hand (N Y)       Date:  2010-10-26

Review 2.  Of proteins and RNA: the RNase P/MRP family.

Authors:  Olga Esakova; Andrey S Krasilnikov
Journal:  RNA       Date:  2010-07-13       Impact factor: 4.942

3.  Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Authors:  Christian T Thiel; Geert Mortier; Ilkka Kaitila; André Reis; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-08-06       Impact factor: 11.025

4.  Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

Authors:  Winnie Ip; H Bobby Gaspar; Robert Kleta; Estelle Chanudet; Chiara Bacchelli; Alison Pitts; Zohreh Nademi; E Graham Davies; Mary A Slatter; Persis Amrolia; Kanchan Rao; Paul Veys; Andrew R Gennery; Waseem Qasim
Journal:  J Clin Immunol       Date:  2015-02-08       Impact factor: 8.317

5.  Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Authors:  Luisa Bonafé; Emmanouil T Dermitzakis; Sheila Unger; Cheryl R Greenberg; Belinda A Campos-Xavier; Andreas Zankl; Catherine Ucla; Stylianos E Antonarakis; Andrea Superti-Furga; Alexandre Reymond
Journal:  PLoS Genet       Date:  2005-10       Impact factor: 5.917

6.  RNase MRP cleaves pre-tRNASer-Met in the tRNA maturation pathway.

Authors:  Yuichiro Saito; Jun Takeda; Kousuke Adachi; Yuko Nobe; Junya Kobayashi; Kouji Hirota; Douglas V Oliveira; Masato Taoka; Toshiaki Isobe
Journal:  PLoS One       Date:  2014-11-17       Impact factor: 3.240
  6 in total

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