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



Pia Hermanns, Alison A Bertuch, Terry K Bertin, Brian Dawson, Mark E Schmitt, Chad Shaw, Bernhard Zabel, Brendan Lee. Hum Mol Genet 2005
Times Cited: 74




List of shared articles



Times cited

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

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

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

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

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

Ribosomopathies: Global process, tissue specific defects.
Pamela C Yelick, Paul A Trainor. Rare Dis 2015
55

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