A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism-Reference-Cited by-同舟云学术

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism

Published:2017-03 Issue:3 Volume:100 Page:506-522
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Paolini Nahuel A.,Attwood Martin,Sondalle Samuel B.,Vieira Carolina Marques dos Santos,van Adrichem Anita M.,di Summa Franca M.,O’Donohue Marie-Françoise,Gleizes Pierre-Emmanuel,Rachuri Swaksha,Briggs Joseph W.,Fischer Roman,Ratcliffe Peter J.,Wlodarski Marcin W.,Houtkooper Riekelt H.,von Lindern Marieke,Kuijpers Taco W.,Dinman Jonathan D.,Baserga Susan J.,Cockman Matthew E.,MacInnes Alyson W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update;Boria;Hum. Mutat.,2010

2. Identification of RPS14 as a 5q- syndrome gene by RNA interference screen;Ebert;Nature,2008

3. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia;Bolze;Science,2013

4. A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans;Brooks;Genetics,2014

5. RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability;Thevenon;Am. J. Med. Genet. A.,2015

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