G F Pierce, S H Polmar. Clin Exp Immunol 1982
Times Cited: 23
Times Cited: 23
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
V A MCKUSICK, R ELDRIDGE, J A HOSTETLER, U RUANGWIT, J A EGELAND. Bull Johns Hopkins Hosp 1965
52
Lymphocyte dysfunction in cartilage-hair hypoplasia: evidence for an intrinsic defect in cellular proliferation.
G F Pierce, S H Polmar. J Immunol 1982
G F Pierce, S H Polmar. J Immunol 1982
52
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
43
Cellular and humoral immmunity in cartilage-hair hypoplasia.
M Virolainen, E Savilahti, I Kaitila, J Perheentupa. Pediatr Res 1978
M Virolainen, E Savilahti, I Kaitila, J Perheentupa. Pediatr Res 1978
34
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
M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas,[...]. Cell 2001
34
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
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
30
Cartilage hair hypoplasia: immunological aspects and their clinical implications.
S H Polmar, G F Pierce. Clin Immunol Immunopathol 1986
S H Polmar, G F Pierce. Clin Immunol Immunopathol 1986
26
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
I van der Burgt, A Haraldsson, J C Oosterwijk, A J van Essen, C Weemaes, B Hamel. Am J Med Genet 1991
21
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
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
A Ranki, J Perheentupa, L C Andersson, P Häyry. Clin Exp Immunol 1978
21
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
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
21
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.
O Mäkitie. J Med Genet 1992
O Mäkitie. J Med Genet 1992
21
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
E Juvonen, O Mäkitie, A Mäkipernaa, T Ruutu, I Kaitila, J Rajantie. Eur J Pediatr 1995
33
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
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
21
Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia.
G F Pierce, C Brovall, B Z Schacter, S H Polmar. J Clin Invest 1983
G F Pierce, C Brovall, B Z Schacter, S H Polmar. J Clin Invest 1983
45
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
21
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency.
G H Ashby, D I Evans. J R Soc Med 1986
G H Ashby, D I Evans. J R Soc Med 1986
33
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
F Berthet, C A Siegrist, H Ozsahin, P Tuchschmid, G Eich, A Superti-Furga, R A Seger. Eur J Pediatr 1996
17
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
17
Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID).
E Castigli, A M Irani, R S Geha, T Chatila. Clin Exp Immunol 1995
E Castigli, A M Irani, R S Geha, T Chatila. Clin Exp Immunol 1995
30
17
Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. Eur J Pediatr 1998
O Mäkitie, I Kaitila, E Savilahti. Eur J Pediatr 1998
17
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
R Kooijman, C J van der Burgt, C M Weemaes, A Haraldsson, E J Scholtens, B J Zegers. Scand J Immunol 1997
30
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
17
Antibody-mediated immunodeficiency in short-limbed dwarfism.
A J Ammann, W Sutliff, E Millinchick. J Pediatr 1974
A J Ammann, W Sutliff, E Millinchick. J Pediatr 1974
13
Lymphocyte subpopulations in primary immunodeficiency disorders.
E G Davies, R J Levinsky, M Butler, R M Thomas, D C Linch. Arch Dis Child 1983
E G Davies, R J Levinsky, M Butler, R M Thomas, D C Linch. Arch Dis Child 1983
17
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
R E Harris, R L Baehner, S Gleiser, D D Weaver, M E Hodes. Am J Med Genet 1981
13
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
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
13
Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
13
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
Luigi D Notarangelo, Chaim M Roifman, Silvia Giliani. Curr Opin Allergy Clin Immunol 2008
13
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
13
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
8
Immunolocalization of 7-2-ribonucleoprotein in the granular component of the nucleolus.
G Reimer, I Raska, U Scheer, E M Tan. Exp Cell Res 1988
G Reimer, I Raska, U Scheer, E M Tan. Exp Cell Res 1988
8
A rapid and simple method for preparation of RNA from Saccharomyces cerevisiae.
M E Schmitt, T A Brown, B L Trumpower. Nucleic Acids Res 1990
M E Schmitt, T A Brown, B L Trumpower. Nucleic Acids Res 1990
8
The 5' end of yeast 5.8S rRNA is generated by exonucleases from an upstream cleavage site.
Y Henry, H Wood, J P Morrissey, E Petfalski, S Kearsey, D Tollervey. EMBO J 1994
Y Henry, H Wood, J P Morrissey, E Petfalski, S Kearsey, D Tollervey. EMBO J 1994
8
Characterization of a unique protein component of yeast RNase MRP: an RNA-binding protein with a zinc-cluster domain.
M E Schmitt, D A Clayton. Genes Dev 1994
M E Schmitt, D A Clayton. Genes Dev 1994
8
Rpp1, an essential protein subunit of nuclear RNase P required for processing of precursor tRNA and 35S precursor rRNA in Saccharomyces cerevisiae.
V Stolc, S Altman. Genes Dev 1997
V Stolc, S Altman. Genes Dev 1997
8
Mutagenesis of SNM1, which encodes a protein component of the yeast RNase MRP, reveals a role for this ribonucleoprotein endoribonuclease in plasmid segregation.
T Cai, T R Reilly, M Cerio, M E Schmitt. Mol Cell Biol 1999
T Cai, T R Reilly, M Cerio, M E Schmitt. Mol Cell Biol 1999
8
A functional dominant mutation in Schizosaccharomyces pombe RNase MRP RNA affects nuclear RNA processing and requires the mitochondrial-associated nuclear mutation ptp1-1 for viability.
J L Paluh, D A Clayton. EMBO J 1996
J L Paluh, D A Clayton. EMBO J 1996
11
Purification and characterization of the nuclear RNase P holoenzyme complex reveals extensive subunit overlap with RNase MRP.
J R Chamberlain, Y Lee, W S Lane, D R Engelke. Genes Dev 1998
J R Chamberlain, Y Lee, W S Lane, D R Engelke. Genes Dev 1998
8
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
S Chu, R H Archer, J M Zengel, L Lindahl. Proc Natl Acad Sci U S A 1994
8
Yeast site-specific ribonucleoprotein endoribonuclease MRP contains an RNA component homologous to mammalian RNase MRP RNA and essential for cell viability.
M E Schmitt, D A Clayton. Genes Dev 1992
M E Schmitt, D A Clayton. Genes Dev 1992
8
Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae.
M E Schmitt, D A Clayton. Mol Cell Biol 1993
M E Schmitt, D A Clayton. Mol Cell Biol 1993
8
Pop3p is essential for the activity of the RNase MRP and RNase P ribonucleoproteins in vivo.
B Dichtl, D Tollervey. EMBO J 1997
B Dichtl, D Tollervey. EMBO J 1997
8
Characterization of four B-type cyclin genes of the budding yeast Saccharomyces cerevisiae.
I Fitch, C Dahmann, U Surana, A Amon, K Nasmyth, L Goetsch, B Byers, B Futcher. Mol Biol Cell 1992
I Fitch, C Dahmann, U Surana, A Amon, K Nasmyth, L Goetsch, B Byers, B Futcher. Mol Biol Cell 1992
8
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
H van Eenennaam, N Jarrous, W J van Venrooij, G J Pruijn. IUBMB Life 2000
8
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.