A citation-based method for searching scientific literature

O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
Times Cited: 30







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



Times Cited
  Times     Co-cited
Similarity



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
63

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
60




Growth in cartilage-hair hypoplasia.
O Mäkitie, J Perheentupa, I Kaitila. Pediatr Res 1992
43
36

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
24
37

Cellular and humoral immmunity in cartilage-hair hypoplasia.
M Virolainen, E Savilahti, I Kaitila, J Perheentupa. Pediatr Res 1978
44
30

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
30

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
26

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
40

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
26

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
110
23

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
23

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
23

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
23

Immunologic studies of cartilage-hair hypoplasia in the Amish.
J E Trojak, S H Polmar, J A Winkelstein, S Hsu, C Francomano, G F Pierce, J J Scillian, A N Gale, V A McKusick. Johns Hopkins Med J 1981
23
26

Cartilage-hair hypoplasia.
O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila. J Med Genet 1995
37
20

Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.
E Juvonen, O Mäkitie, A Mäkipernaa, T Ruutu, I Kaitila, J Rajantie. Eur J Pediatr 1995
15
40


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

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
33
20

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

Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
42
20

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
20


Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child.
R E Harris, R L Baehner, S Gleiser, D D Weaver, M E Hodes. Am J Med Genet 1981
23
21

Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
32
16


Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
481
16

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

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
16

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
16
31

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
16


Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia.
F T Saulsbury, J A Winkelstein, L E Davis, S H Hsu, B J D'Souza, G R Gutcher, I J Butler. J Pediatr 1975
34
13

[Hypoplasia of cartilage and hair with combined immune deficiency].
H Rubie, D Graber, A Fischer, M T Tauber, P Maroteaux, A Robert, F Le Deist, P Rochiccioli, C Griscelli, C Regnier. Ann Pediatr (Paris) 1989
12
33

Cartilage hair hypoplasia.
D C Siggers, J B Burke, B Morris, I C Normand, J M Tanner, D A Williamson. Postgrad Med J 1977
7
57

Cartilage hair hypoplasia.
C B Boothby, B D Bower. Arch Dis Child 1973
8
50


[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease].
M le Merrer, M L Briard, M L Chauvet, P Maroteaux. Ann Pediatr (Paris) 1991
9
44

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
13

Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.
O M Mäkitie, P J Tapanainen, L Dunkel, M A Siimes. Ann Med 2001
18
22

RNA-protein interactions in the human RNase MRP ribonucleoprotein complex.
H Pluk, H van Eenennaam, S A Rutjes, G J Pruijn, W J van Venrooij. RNA 1999
54
13


In vitro T- and B-cell reactivity in cartilage hair hypoplasia.
A Ranki, J Perheentupa, L C Andersson, P Häyry. Clin Exp Immunol 1978
25
16

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
13


Cartilage-hair-hypoplasia and Hodgkin disease.
R J Gorlin. Am J Med Genet 1992
5
60


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.