E Juvonen, O Mäkitie, A Mäkipernaa, T Ruutu, I Kaitila, J Rajantie. Eur J Pediatr 1995
Times Cited: 14
Times Cited: 14
Times Cited
Times Co-cited
Similarity
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.
O Mäkitie, I Kaitila. Eur J Pediatr 1993
O Mäkitie, I Kaitila. Eur J Pediatr 1993
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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
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DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.
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Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.
O Mäkitie. J Med Genet 1992
O Mäkitie. J Med Genet 1992
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Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
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Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. Eur J Pediatr 1998
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Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth.
G F Pierce, S H Polmar. Clin Exp Immunol 1982
G F Pierce, S H Polmar. Clin Exp Immunol 1982
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Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
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Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.
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Cartilage hair hypoplasia: immunological aspects and their clinical implications.
S H Polmar, G F Pierce. Clin Immunol Immunopathol 1986
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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
T Sulisalo, P Sistonen, J Hästbacka, C Wadelius, O Mäkitie, A de la Chapelle, I Kaitila. Nat Genet 1993
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Lymphocyte dysfunction in cartilage-hair hypoplasia: evidence for an intrinsic defect in cellular proliferation.
G F Pierce, S H Polmar. J Immunol 1982
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Cellular and humoral immmunity in cartilage-hair hypoplasia.
M Virolainen, E Savilahti, I Kaitila, J Perheentupa. Pediatr Res 1978
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Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system.
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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
Maaret Ridanpää, Pawan Jain, Victor A McKusick, Clair A Francomano, Ilkka Kaitila. Am J Med Genet C Semin Med Genet 2003
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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
Pia Hermanns, Alison A Bertuch, Terry K Bertin, Brian Dawson, Mark E Schmitt, Chad Shaw, Bernhard Zabel, Brendan Lee. Hum Mol Genet 2005
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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
Maaret Ridanpää, Pertti Sistonen, Susanna Rockas, David L Rimoin, Outi Mäkitie, Ilkka Kaitila. Eur J Hum Genet 2002
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Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
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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
T Sulisalo, J Klockars, O Mäkitie, C A Francomano, A de la Chapelle, I Kaitila, P Sistonen. Am J Hum Genet 1994
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Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
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21
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
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21
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
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21
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
Mervi Taskinen, Annamari Ranki, Eero Pukkala, Leila Jeskanen, Ilkka Kaitila, Outi Mäkitie. Am J Med Genet A 2008
21
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
Yoshiko Maida, Mami Yasukawa, Miho Furuuchi, Timo Lassmann, Richard Possemato, Naoko Okamoto, Vivi Kasim, Yoshihide Hayashizaki, William C Hahn, Kenkichi Masutomi. Nature 2009
21
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
Marc S Williams, Robert S Ettinger, Pia Hermanns, Brendan Lee, Göran Carlsson, Mervi Taskinen, Outi Mäkitie. Am J Med Genet A 2005
21
In vitro T- and B-cell reactivity in cartilage hair hypoplasia.
A Ranki, J Perheentupa, L C Andersson, P Häyry. Clin Exp Immunol 1978
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Growth hormone: species-specific stimulation of erythropoiesis in vitro.
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Variation of growth in height and weight of children. II. After infancy.
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Insulin-like growth factor I stimulates human erythroid colony formation in vitro.
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Receptors for the insulin-like growth factors on human erythrocytes.
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The 5' end of yeast 5.8S rRNA is generated by exonucleases from an upstream cleavage site.
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Mutational analysis of the RNA component of Saccharomyces cerevisiae RNase MRP reveals distinct nuclear phenotypes.
G S Shadel, G A Buckenmeyer, D A Clayton, M E Schmitt. Gene 2000
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Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae.
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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
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A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication.
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[Hypoplasia of cartilage and hair with combined immune deficiency].
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Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
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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
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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
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14
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.
D C Dale, M A Bonilla, M W Davis, A M Nakanishi, W P Hammond, J Kurtzberg, W Wang, A Jakubowski, E Winton, P Lalezari. Blood 1993
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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
T Sulisalo, C A Francomano, P Sistonen, J F Maher, V A McKusick, A de la Chapelle, I Kaitila. Genomics 1994
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A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.
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Haematological abnormalities in Shwachman-Diamond syndrome.
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Genetic homogeneity of cartilage-hair hypoplasia.
T Sulisalo, I van der Burgt, D L Rimoin, J Bonaventure, D Sillence, J B Campbell, D Chitayat, C I Scott, A de la Chapelle, P Sistonen. Hum Genet 1995
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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
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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
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
14
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.