G F Pierce, S H Polmar. J Immunol 1982
Times Cited: 30
Times Cited: 30
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
63
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
60
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
46
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
52
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
36
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
33
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
30
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.
O Mäkitie. J Med Genet 1992
O Mäkitie. J Med Genet 1992
30
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
30
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
34
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
23
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
28
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
23
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
20
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
20
Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
20
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
54
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
21
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
16
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
13
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
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
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
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
13
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
28
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.
O M Mäkitie, P J Tapanainen, L Dunkel, M A Siimes. Ann Med 2001
O M Mäkitie, P J Tapanainen, L Dunkel, M A Siimes. Ann Med 2001
22
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
Christian T Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch. Am J Hum Genet 2007
13
Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
13
METAPHYSEAL DYSOSTOSIS AND THIN HAIR: A "NEW" RECESSIVELY INHERITED SYNDROME?
V A MCKUSICK. Lancet 1964
V A MCKUSICK. Lancet 1964
10
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
25
An inverted ratio for T-helper/T-suppressor cells, and selective deficiency of cell-mediated immunity, in a girl with cartilage hair hypoplasia.
O Steffensen, P A Ostergaard. Eur J Pediatr 1980
O Steffensen, P A Ostergaard. Eur J Pediatr 1980
60
[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)].
A Lischka, H Frisch, G Weissenbacher. Monatsschr Kinderheilkd 1984
A Lischka, H Frisch, G Weissenbacher. Monatsschr Kinderheilkd 1984
50
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
Chaim M Roifman, Yiping Gu, Amos Cohen. J Allergy Clin Immunol 2006
10
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
O Mäkitie, E Juvonen, L Dunkel, I Kaitila, M A Siimes. J Clin Endocrinol Metab 2000
15
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
12
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
Tim J M Welting, Walther J van Venrooij, Ger J M Pruijn. Nucleic Acids Res 2004
10
Natural cytotoxicity in immunodeficiency diseases: preservation of natural killer activity and the in vivo appearance of radioresistant killing.
G F Pierce, S H Polmar, B Z Schacter, C Brovall, D L Hornick, R U Sorensen. Hum Immunol 1986
G F Pierce, S H Polmar, B Z Schacter, C Brovall, D L Hornick, R U Sorensen. Hum Immunol 1986
30
[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
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
25
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
6
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
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
11
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping.
A E Lehesjoki, M Koskiniemi, R Norio, S Tirrito, P Sistonen, E Lander, A de la Chapelle. Hum Mol Genet 1993
A E Lehesjoki, M Koskiniemi, R Norio, S Tirrito, P Sistonen, E Lander, A de la Chapelle. Hum Mol Genet 1993
6
A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication.
D D Chang, D A Clayton. EMBO J 1987
D D Chang, D A Clayton. EMBO J 1987
6
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
6
Variation of growth in height and weight of children. II. After infancy.
R Sorva, S Lankinen, E M Tolppanen, J Perheentupa. Acta Paediatr Scand 1990
R Sorva, S Lankinen, E M Tolppanen, J Perheentupa. Acta Paediatr Scand 1990
6
Percentile curves for hemoglobin and red cell volume in infancy and childhood.
P R Dallman, M A Siimes. J Pediatr 1979
P R Dallman, M A Siimes. J Pediatr 1979
6
Shwachman's syndrome. A review of 21 cases.
P J Aggett, N P Cavanagh, D J Matthew, J R Pincott, J Sutcliffe, J T Harries. Arch Dis Child 1980
P J Aggett, N P Cavanagh, D J Matthew, J R Pincott, J Sutcliffe, J T Harries. Arch Dis Child 1980
6
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
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.