A citation-based method for searching scientific literature

O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
Times Cited: 32







List of co-cited articles
148 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
301
75


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
265
56

Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
41
50

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
46



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
34

Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia.
F Berthet, C A Siegrist, H Ozsahin, P Tuchschmid, G Eich, A Superti-Furga, R A Seger. Eur J Pediatr 1996
32
31

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
64
28

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
74
28

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

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
36

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
25

T cell subsets and T cell function in cartilage-hair hypoplasia.
R Kooijman, C J van der Burgt, C M Weemaes, A Haraldsson, E J Scholtens, B J Zegers. Scand J Immunol 1997
13
53

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
91
21

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
21

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
21

Hirschsprung disease associated with severe cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, R Rintala. J Pediatr 2001
20
30

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.
I van der Burgt, A Haraldsson, J C Oosterwijk, A J van Essen, C Weemaes, B Hamel. Am J Med Genet 1991
29
20

Growth in cartilage-hair hypoplasia.
O Mäkitie, J Perheentupa, I Kaitila. Pediatr Res 1992
42
18

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
29
20

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
18

Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
30
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
25

Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.
O M Mäkitie, P J Tapanainen, L Dunkel, M A Siimes. Ann Med 2001
17
29


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
19

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
20

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
33

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
265
15

Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.
S E Lux, R B Johnston, C S August, B Say, V B Penchaszadeh, F S Rosen, V A McKusick. N Engl J Med 1970
109
12

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
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
12

Cartilage-hair hypoplasia.
O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila. J Med Genet 1995
36
12

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
14

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
12

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
23

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
24
16

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
57

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
90
9

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.
R H Buckley, S E Schiff, R I Schiff, L Markert, L W Williams, J L Roberts, L A Myers, F E Ward. N Engl J Med 1999
490
9

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
T Sulisalo, J Klockars, O Mäkitie, C A Francomano, A de la Chapelle, I Kaitila, P Sistonen. Am J Hum Genet 1994
55
9


Medical complications of achondroplasia: a multicentre patient review.
A G Hunter, A Bankier, J G Rogers, D Sillence, C I Scott. J Med Genet 1998
132
9

Fetal skeletal dysplasia: three-dimensional US--initial experience.
K V Garjian, D H Pretorius, N E Budorick, C J Cantrell, D D Johnson, T R Nelson. Radiology 2000
69
9

Natural history study of pseudoachondroplasia.
J McKeand, J Rotta, J T Hecht. Am J Med Genet 1996
70
9

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
117
9


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
9


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.