A citation-based method for searching scientific literature

Christian T Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch. Am J Hum Genet 2007
Times Cited: 52



M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas, O Mäkitie, I Kaitila, A de la Chapelle. Cell 2001
Times Cited: 301




List of shared articles



Times cited

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
Leslie E Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D Notarangelo, Silvia Giliani, Eric Bouhassira,[...]. Hum Mol Genet 2014
62

Diverse diseases from a ubiquitous process: the ribosomopathy paradox.
Joy Armistead, Barbara Triggs-Raine. FEBS Lett 2014
64

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
32

Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling.
Xianding Sun, Ruobin Zhang, Mi Liu, Hangang Chen, Liang Chen, Fengtao Luo, Dali Zhang, Junlan Huang, Fangfang Li, Zhenhong Ni,[...]. J Bone Miner Res 2019
10

Functional characterization of the Drosophila MRP (mitochondrial RNA processing) RNA gene.
Mary D Schneider, Anupinder K Bains, T K Rajendra, Zbigniew Dominski, A Gregory Matera, Andrew J Simmonds. RNA 2010
7

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.
Svetlana Vakkilainen, Mervi Taskinen, Paula Klemetti, Eero Pukkala, Outi Mäkitie. Front Immunol 2019
12

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.
Patrick Riley, Dennis S Weiner, Bonnie Leighley, David Jonah, D Holmes Morton, Kevin A Strauss, Michael B Bober, Martin S Dicintio. J Child Orthop 2015
5


When ribosomes go bad: diseases of ribosome biogenesis.
Emily F Freed, Franziska Bleichert, Laura M Dutca, Susan J Baserga. Mol Biosyst 2010
113




Rare ribosomopathies: insights into mechanisms of cancer.
Anna Aspesi, Steven R Ellis. Nat Rev Cancer 2019
37

Decreased telomere length in children with cartilage-hair hypoplasia.
Svetlana Kostjukovits, Sofie Degerman, Minna Pekkinen, Paula Klemetti, Mattias Landfors, Göran Roos, Mervi Taskinen, Outi Mäkitie. J Med Genet 2017
13

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.
Marie Crahes, Pascale Saugier-Veber, Sophie Patrier, Moutaz Aziz, Nathalie Pirot, Marie Brasseur-Daudruy, Valérie Layet, Thierry Frébourg, Annie Laquerrière. Eur J Med Genet 2013
4

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
Maha Abdulhadi-Atwan, Tehila Klopstock, Muna Sharaf, Ariella Weinberg-Shukron, Paul Renbaum, Ephrat Levy-Lahad, David Zangen. Am J Med Genet A 2020
1

Diamond Blackfan anemia.
Sarah Ball. Hematology Am Soc Hematol Educ Program 2011
39

Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.
Sandy Mattijssen, Ella R Hinson, Carla Onnekink, Pia Hermanns, Bernhard Zabel, Peter Cresswell, Ger J M Pruijn. Cell Mol Life Sci 2011
20

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
Maria E Gomes, Luiza Calatrava Paternostro, Valéria R Moura, Deborah Antunes, Ernesto R Caffarena, Dafne Horovitz, Maria T Sanseverino, Gabriela Ferraz Leal, Têmis M Felix, Denise Pontes Cavalcanti,[...]. Mol Syndromol 2020
1

Conserved and variable domains of RNase MRP RNA.
Marcela Dávila López, Magnus Alm Rosenblad, Tore Samuelsson. RNA Biol 2009
36

RNase MRP cleaves pre-tRNASer-Met in the tRNA maturation pathway.
Yuichiro Saito, Jun Takeda, Kousuke Adachi, Yuko Nobe, Junya Kobayashi, Kouji Hirota, Douglas V Oliveira, Masato Taoka, Toshiaki Isobe. PLoS One 2014
7

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
Miguel A de la Fuente, Mike Recher, Nicholas L Rider, Kevin A Strauss, D Holmes Morton, Margaret Adair, Francisco A Bonilla, Hans D Ochs, Erwin W Gelfand, Itai M Pessach,[...]. J Allergy Clin Immunol 2011
24

Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Geraldine Aubert, Kevin A Strauss, Peter M Lansdorp, Nicholas L Rider. J Allergy Clin Immunol 2017
10

Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.
Andrea Kwan, M A Manning, Linda K Zollars, H Eugene Hoyme. Am J Med Genet A 2012
11

Dis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAs.
Mehdi Pirouz, Peng Du, Marzia Munafò, Richard I Gregory. Cell Rep 2016
56

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.
Luigi D Notarangelo, Chaim M Roifman, Silvia Giliani. Curr Opin Allergy Clin Immunol 2008
34

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
P Klemetti, H Valta, S Kostjukovits, M Taskinen, S Toiviainen-Salo, O Mäkitie. Clin Genet 2017
4

Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Nicholas L Rider, D Holmes Morton, Erik Puffenberger, Christine L Hendrickson, Donna L Robinson, Kevin A Strauss. Clin Immunol 2009
25

RNase MRP and disease.
Sandy Mattijssen, Tim J M Welting, Ger J M Pruijn. Wiley Interdiscip Rev RNA 2010
34

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.
Christine M Hall, Becky Liu, Andrea Haworth, Laura Reed, Jeremy Pryce, Sahar Mansour. Eur J Med Genet 2021
0

Non-coding RNAs and disease: the classical ncRNAs make a comeback.
Rogerio Alves de Almeida, Marcin G Fraczek, Steven Parker, Daniela Delneri, Raymond T O'Keefe. Biochem Soc Trans 2016
43

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
Winnie Ip, H Bobby Gaspar, Robert Kleta, Estelle Chanudet, Chiara Bacchelli, Alison Pitts, Zohreh Nademi, E Graham Davies, Mary A Slatter, Persis Amrolia,[...]. J Clin Immunol 2015
7

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
Svetlana Vakkilainen, Paula Klemetti, Timi Martelius, Mikko Jr Seppänen, Outi Mäkitie, Sanna Toiviainen-Salo. J Clin Immunol 2021
0

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F Boerkoel, Ilkka Kaitila. Am J Med Genet A 2008
14

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
Fotini D Kavadas, Silvia Giliani, Yiping Gu, Evelina Mazzolari, Andrea Bates, Eleonora Pegoiani, Chaim M Roifman, Luigi D Notarangelo. J Allergy Clin Immunol 2008
35

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.
N Vatanavicharn, N Visitsunthorn, T Pho-iam, O Jirapongsananuruk, P Pacharn, K Chokephaibulkit, C Limwongse, P Wasant. J Appl Genet 2010
3

Of proteins and RNA: the RNase P/MRP family.
Olga Esakova, Andrey S Krasilnikov. RNA 2010
152