A citation-based method for searching scientific literature

O M Mäkitie, P J Tapanainen, L Dunkel, M A Siimes. Ann Med 2001
Times Cited: 18







List of co-cited articles
95 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
312
88


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
266
55

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
66
55


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
95
50

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
77
44

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
27

Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
32
27


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
72
27

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
55
27

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
56
27


Hirschsprung disease associated with severe cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, R Rintala. J Pediatr 2001
20
22

Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
42
22

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.
Maaret Ridanpää, Pawan Jain, Victor A McKusick, Clair A Francomano, Ilkka Kaitila. Am J Med Genet C Semin Med Genet 2003
32
22

Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
30
22

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
22

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
49
22


Architecture and function of the human endonucleases RNase P and RNase MRP.
H van Eenennaam, N Jarrous, W J van Venrooij, G J Pruijn. IUBMB Life 2000
47
16

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
T Sulisalo, P Sistonen, J Hästbacka, C Wadelius, O Mäkitie, A de la Chapelle, I Kaitila. Nat Genet 1993
72
16

Subcellular partitioning of MRP RNA assessed by ultrastructural and biochemical analysis.
K Li, C S Smagula, W J Parsons, J A Richardson, M Gonzalez, H K Hagler, R S Williams. J Cell Biol 1994
105
16

Hereditary diseases in Finland; rare flora in rare soul.
R Norio, H R Nevanlinna, J Perheentupa. Ann Clin Res 1973
235
16

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
29
16

Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system.
O Mäkitie, E Juvonen, L Dunkel, I Kaitila, M A Siimes. J Clin Endocrinol Metab 2000
20
16


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
184
16



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
70
16

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
40
16

RNase MRP RNA and human genetic diseases.
Allison N Martin, Yong Li. Cell Res 2007
52
16

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis.
Outi Mäkitie, Marja Heikkinen, Ilkka Kaitila, Risto Rintala. J Pediatr Surg 2002
21
16

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
121
16

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
276
16

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
16



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
14
21

Spectrum of mutations in aspartylglucosaminuria.
E Ikonen, P Aula, K Grön, O Tollersrud, R Halila, T Manninen, A C Syvänen, L Peltonen. Proc Natl Acad Sci U S A 1991
63
11

Rapid diagnostic test for the major mutation underlying Batten disease.
I Järvelä, H M Mitchison, P B Munroe, A M O'Rawe, S E Mole, A C Syvänen. J Med Genet 1996
34
11

Secondary structure of RNase MRP RNA as predicted by phylogenetic comparison.
M E Schmitt, J L Bennett, D J Dairaghi, D A Clayton. FASEB J 1993
91
11


Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
J Vesa, E Hellsten, L A Verkruyse, L A Camp, J Rapola, P Santavuori, S L Hofmann, L Peltonen. Nature 1995
614
11

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
T Sulisalo, C A Francomano, P Sistonen, J F Maher, V A McKusick, A de la Chapelle, I Kaitila. Genomics 1994
25
11


Uniparental disomy in cartilage-hair hypoplasia.
T Sulisalo, O Mäkitie, P Sistonen, M Ridanpää, W el-Rifai, O Ruuskanen, A de la Chapelle, I Kaitila. Eur J Hum Genet 1997
34
11

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
M Kestilä, U Lenkkeri, M Männikkö, J Lamerdin, P McCready, H Putaala, V Ruotsalainen, T Morita, M Nissinen, R Herva,[...]. Mol Cell 1998
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.