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







List of co-cited articles
367 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas,[...]. Cell 2001
296
71

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Christian T Thiel, Denise Horn, Bernhard Zabel, Arif B Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, Jürgen Spranger, Dietmar Müller,[...]. Am J Hum Genet 2005
90
44


Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
Pia Hermanns, Alison A Bertuch, Terry K Bertin, Brian Dawson, Mark E Schmitt, Chad Shaw, Bernhard Zabel, Brendan Lee. Hum Mol Genet 2005
73
38

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.
V A MCKUSICK, R ELDRIDGE, J A HOSTETLER, U RUANGWIT, J A EGELAND. Bull Johns Hopkins Hosp 1965
264
36

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
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
48
35

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
41

RNase MRP RNA and human genetic diseases.
Allison N Martin, Yong Li. Cell Res 2007
48
33

RNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradation.
Tina Gill, Ti Cai, Jason Aulds, Sara Wierzbicki, Mark E Schmitt. Mol Cell Biol 2004
114
30


Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.
Maaret Ridanpää, Pertti Sistonen, Susanna Rockas, David L Rimoin, Outi Mäkitie, Ilkka Kaitila. Eur J Hum Genet 2002
63
28

Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex.
Tim J M Welting, Walther J van Venrooij, Ger J M Pruijn. Nucleic Acids Res 2004
71
28

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
42

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
28

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
56

An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.
Yoshiko Maida, Mami Yasukawa, Miho Furuuchi, Timo Lassmann, Richard Possemato, Naoko Okamoto, Vivi Kasim, Yoshihide Hayashizaki, William C Hahn, Kenkichi Masutomi. Nature 2009
260
26

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.
Chaim M Roifman, Yiping Gu, Amos Cohen. J Allergy Clin Immunol 2006
69
25

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
38

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
52



Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
23


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
57


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
60
21


The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
32
31

Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
41
21

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene.
T W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam. J Med Genet 2003
28
32

Bone marrow transplantation for cartilage-hair-hypoplasia.
R Guggenheim, R Somech, E Grunebaum, A Atkinson, C M Roifman. Bone Marrow Transplant 2006
29
31

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
35
25

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
23
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
47

Cartilage-hair hypoplasia.
O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila. J Med Genet 1995
35
22

Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
32
25

RMRP mutations in Japanese patients with cartilage-hair hypoplasia.
Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura, Shiro Ikegawa. Am J Med Genet A 2003
26
26


Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis.
Sanna Toiviainen-Salo, Merja Kajosaari, Anneli Piilonen, Outi Mäkitie. J Pediatr 2008
10
70

Heterodimerization regulates RNase MRP/RNase P association, localization, and expression of Rpp20 and Rpp25.
Tim J M Welting, Florence M A Peters, Sanne M M Hensen, Nienke L van Doorn, Bastiaan J Kikkert, Jos M H Raats, Walther J van Venrooij, Ger J M Pruijn. RNA 2007
35
20



Growth in cartilage-hair hypoplasia.
O Mäkitie, J Perheentupa, I Kaitila. Pediatr Res 1992
42
16

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
23
30

Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.
Albert C F Lam, Daniel H C Chan, Tony M F Tong, Mary H Y Tang, Steven Y F Lo, Ivan F M Lo, Stephen T S Lam. Prenat Diagn 2006
8
75

The natural history of severe anemia in cartilage-hair hypoplasia.
Marc S Williams, Robert S Ettinger, Pia Hermanns, Brendan Lee, Göran Carlsson, Mervi Taskinen, Outi Mäkitie. Am J Med Genet A 2005
15
40


The RNA of RNase MRP is required for normal processing of ribosomal RNA.
S Chu, R H Archer, J M Zengel, L Lindahl. Proc Natl Acad Sci U S A 1994
183
11

Accurate processing of a eukaryotic precursor ribosomal RNA by ribonuclease MRP in vitro.
Z Lygerou, C Allmang, D Tollervey, B Séraphin. Science 1996
203
11

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, T N Willig, I Dianzani, S Ball, G Tchernia, J Klar, H Matsson,[...]. Nat Genet 1999
594
11


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.