A citation-based method for searching scientific literature

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. PLoS Genet 2005
Times Cited: 48



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. Am J Hum Genet 2005
Times Cited: 91




List of shared articles



Times cited

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
J Barraza-García, C I Rivera-Pedroza, A Hisado-Oliva, A Belinchón-Martínez, L Sentchordi-Montané, E L Duncan, G R Clark, A Del Pozo, K Ibáñez-Garikano, A Offiah,[...]. Clin Genet 2017
8

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.
Imane Cherkaoui Jaouad, Fatima Z Laarabi, Siham Chafai Elalaoui, Stanislas Lyonnet, Alexandra Henrion-Caude, Abdelaziz Sefiani. Mol Syndromol 2015
5

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

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 mutations in cartilage-hair hypoplasia.
Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel, Brendan Lee, Jules G Leroy. Am J Med Genet A 2006
39

A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia.
Jorge Muñoz-Robles, Luis Miguel Allende, Julian Clemente, Sara Calleja, Pilar Varela, Luis Gonzalez, Paloma de Pablos, Estela Paz, Pablo Morales. Immunobiology 2006
7

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma.
Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila, Outi Mäkitie. Am J Med Genet A 2008
55

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

RNase MRP RNA and human genetic diseases.
Allison N Martin, Yong Li. Cell Res 2007
50

Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.
Tim J M Welting, Sandy Mattijssen, Florence M A Peters, Nienke L van Doorn, Lianne Dekkers, Walther J van Venrooij, Hans A Heus, Luisa Bonafé, Ger J M Pruijn. Biochim Biophys Acta 2008
19

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

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch. Am J Hum Genet 2007
52

Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
Eiji Nakashima, Joseph R Tran, Tim J M Welting, Ger J M Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H Schurman, Jun Cheng, Fabio Candotti,[...]. Am J Med Genet A 2007
25

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
Victoria Bordon, Andrew R Gennery, Mary A Slatter, Els Vandecruys, Genevieve Laureys, Paul Veys, Waseem Qasim, Wilhelm Friedrich, Nico M Wulfraat, Franziska Scherer,[...]. Blood 2010
34

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

Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
Yuichiro Hirose, Eiji Nakashima, Hirofumi Ohashi, Hiroshi Mochizuki, Yuki Bando, Tsutomu Ogata, Masanori Adachi, Emi Toba, Gen Nishimura, Shiro Ikegawa. J Hum Genet 2006
17

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

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

RMRP mutations in hematological disorders.
S A Graf, R T Calado, S Kajigaya, N S Young. Clin Genet 2007
3

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

Of proteins and RNA: the RNase P/MRP family.
Olga Esakova, Andrey S Krasilnikov. RNA 2010
151