A citation-based method for searching scientific literature

T Sulisalo, P Sistonen, J Hästbacka, C Wadelius, O Mäkitie, A de la Chapelle, I Kaitila. Nat Genet 1993
Times Cited: 72







List of co-cited articles
551 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
265
45



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
27

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.
J Hästbacka, A de la Chapelle, I Kaitila, P Sistonen, A Weaver, E Lander. Nat Genet 1992
456
20

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
24


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
56

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
48

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
21

Growth in cartilage-hair hypoplasia.
O Mäkitie, J Perheentupa, I Kaitila. Pediatr Res 1992
42
28

A second-generation linkage map of the human genome.
J Weissenbach, G Gyapay, C Dib, A Vignal, J Morissette, P Millasseau, G Vaysseix, M Lathrop. Nature 1992
16

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
147
15




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
14

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
12

Cellular and humoral immmunity in cartilage-hair hypoplasia.
M Virolainen, E Savilahti, I Kaitila, J Perheentupa. Pediatr Res 1978
44
18


Hereditary diseases in Finland; rare flora in rare soul.
R Norio, H R Nevanlinna, J Perheentupa. Ann Clin Res 1973
231
11

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.
J Hästbacka, A de la Chapelle, M M Mahtani, G Clines, M P Reeve-Daly, M Daly, B A Hamilton, K Kusumi, B Trivedi, A Weaver. Cell 1994
568
11


Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
30
26


Strategies for multilocus linkage analysis in humans.
G M Lathrop, J M Lalouel, C Julier, J Ott. Proc Natl Acad Sci U S A 1984
11


A genetic study of Hirschsprung disease.
J A Badner, W K Sieber, K L Garver, A Chakravarti. Am J Hum Genet 1990
317
9

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.
G Romeo, P Ronchetto, Y Luo, V Barone, M Seri, I Ceccherini, B Pasini, R Bocciardi, M Lerone, H Kääriäinen. Nature 1994
616
9

Cartilage-hair hypoplasia.
O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila. J Med Genet 1995
36
19


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
22
31

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
23
30

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
17
41

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
9

Mutations of the RET proto-oncogene in Hirschsprung's disease.
P Edery, S Lyonnet, L M Mulligan, A Pelet, E Dow, L Abel, S Holder, C Nihoul-Fékété, B A Ponder, A Munnich. Nature 1994
640
8

Uniparental disomy in cartilage-hair hypoplasia.
T Sulisalo, O Mäkitie, P Sistonen, M Ridanpää, W el-Rifai, O Ruuskanen, A de la Chapelle, I Kaitila. Eur J Hum Genet 1997
34
17

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
E Tahvanainen, R Norio, E Karila, S Ranta, J Weissenbach, P Sistonen, A de la Chapelle. Nat Genet 1994
68
8

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.
J Vesa, E Hellsten, L A Verkruyse, L A Camp, J Rapola, P Santavuori, S L Hofmann, L Peltonen. Nature 1995
601
8



Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.
J Hästbacka, I Kaitila, P Sistonen, A de la Chapelle. Proc Natl Acad Sci U S A 1990
51
11

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
M L Warman, M Abbott, S S Apte, T Hefferon, I McIntosh, D H Cohn, J T Hecht, B R Olsen, C A Francomano. Nat Genet 1993
201
8

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
8

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

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
30

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
8

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
11

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
A Winterpacht, M Hilbert, U Schwarze, S Mundlos, J Spranger, B U Zabel. Nat Genet 1993
139
8

Linkage map of human chromosome 9 microsatellite polymorphisms.
P J Wilkie, D B Krizman, J L Weber. Genomics 1992
59
10


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.