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







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

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

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Luisa Bonafé, Jinlong Liang, Maria W Gorna, Qingyan Zhang, Russia Ha-Vinh, Ana Belinda Campos-Xavier, Sheila Unger, Jacques S Beckmann, Antony Le Béchec, Brian Stevenson,[...]. Am J Med Genet A 2014
9

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

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

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 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

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

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

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.
Kerstin Reicherter, Amithkumar Iynapillai Veeramani, Sujatha Jagadeesh. Indian Pediatr 2011
5

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

Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea.
Ho Namgoong, Chang-Seok Ki, Hyesun Hyun, Il Han Yoo, Won Kyoung Cho, Jung Hyun Lee, Jin-Hee Oh. Ann Lab Med 2021
0