Literature DB >> 11370632

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.

D Horn, E Rupprecht, J Kunze, J Spranger.   

Abstract

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Mesh：

Year:  2001        PMID： 11370632      PMCID： PMC1734840          DOI： 10.1136/jmg.38.4.262

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


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  7 in total

Review 1.  When ribosomes go bad: diseases of ribosome biogenesis.

Authors:  Emily F Freed; Franziska Bleichert; Laura M Dutca; Susan J Baserga
Journal:  Mol Biosyst       Date:  2010-01-11

2.  Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

Authors:  Christian T Thiel; Denise Horn; Bernhard Zabel; Arif B Ekici; Kelly Salinas; Erich Gebhart; Franz Rüschendorf; Heinrich Sticht; Jürgen Spranger; Dietmar Müller; Christiane Zweier; Mark E Schmitt; André Reis; Anita Rauch
Journal:  Am J Hum Genet       Date:  2005-09-29       Impact factor: 11.025

Review 3.  Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.

Authors:  Paul A Trainor; Amy E Merrill
Journal:  Biochim Biophys Acta       Date:  2013-11-16

4.  Axial correction of the lower limb deformities in a girl with anauxetic dysplasia.

Authors:  Vladimir Kenis; Franz Grill; Ali Al Kaissi
Journal:  Musculoskelet Surg       Date:  2012-04-24

5.  Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

Authors:  Alireza Baradaran-Heravi; Christian Thiel; Anita Rauch; Martin Zenker; Cornelius F Boerkoel; Ilkka Kaitila
Journal:  Am J Med Genet A       Date:  2008-08-01       Impact factor: 2.802

6.  Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

Authors:  Evgeny A Glazov; Andreas Zankl; Marina Donskoi; Tony J Kenna; Gethin P Thomas; Graeme R Clark; Emma L Duncan; Matthew A Brown
Journal:  PLoS Genet       Date:  2011-03-24       Impact factor: 5.917

7.  'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.

Authors:  Svetlana Vakkilainen; Alice Costantini; Mervi Taskinen; Ulla Wartiovaara-Kautto; Outi Mäkitie
Journal:  J Med Genet       Date:  2019-08-14       Impact factor: 6.318
  7 in total

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