Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F Boerkoel, Ilkka Kaitila. Am J Med Genet A 2008
Times Cited: 14
Times Cited: 14
Times Cited
Times Co-cited
Similarity
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
C F Boerkoel, S O'Neill, J L André, P J Benke, R Bogdanovíć, M Bulla, A Burguet, S Cockfield, I Cordeiro, J H Ehrich,[...]. Eur J Pediatr 2000
C F Boerkoel, S O'Neill, J L André, P J Benke, R Bogdanovíć, M Bulla, A Burguet, S Cockfield, I Cordeiro, J H Ehrich,[...]. Eur J Pediatr 2000
42
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
35
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
35
Schimke immuno-osseous dysplasia: case report and review of 25 patients.
J M Saraiva, A Dinis, C Resende, E Faria, C Gomes, A J Correia, J Gil, N da Fonseca. J Med Genet 1999
J M Saraiva, A Dinis, C Resende, E Faria, C Gomes, A J Correia, J Gil, N da Fonseca. J Med Genet 1999
28
RMRP mutations in cartilage-hair hypoplasia.
Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel, Brendan Lee, Jules G Leroy. Am J Med Genet A 2006
Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel, Brendan Lee, Jules G Leroy. Am J Med Genet A 2006
28
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
28
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
28
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Cornelius F Boerkoel, Hiroshi Takashima, Joy John, Jiong Yan, Pawel Stankiewicz, Lisa Rosenbarker, Jean-Luc André, Radovan Bogdanovic, Antoine Burguet, Sandra Cockfield,[...]. Nat Genet 2002
Cornelius F Boerkoel, Hiroshi Takashima, Joy John, Jiong Yan, Pawel Stankiewicz, Lisa Rosenbarker, Jean-Luc André, Radovan Bogdanovic, Antoine Burguet, Sandra Cockfield,[...]. Nat Genet 2002
21
Identification of SMARCAL1 as a component of the DNA damage response.
Lisa Postow, Eileen M Woo, Brian T Chait, Hironori Funabiki. J Biol Chem 2009
Lisa Postow, Eileen M Woo, Brian T Chait, Hironori Funabiki. J Biol Chem 2009
21
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.
L I Elizondo, K S Cho, W Zhang, J Yan, C Huang, Y Huang, K Choi, E A Sloan, K Deguchi, S Lou,[...]. J Med Genet 2009
L I Elizondo, K S Cho, W Zhang, J Yan, C Huang, Y Huang, K Choi, E A Sloan, K Deguchi, S Lou,[...]. J Med Genet 2009
21
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.
Eiji Nakashima, Joseph R Tran, Tim J M Welting, Ger J M Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H Schurman, Jun Cheng, Fabio Candotti,[...]. Am J Med Genet A 2007
Eiji Nakashima, Joseph R Tran, Tim J M Welting, Ger J M Pruijn, Yuichiro Hirose, Gen Nishimura, Hirofumi Ohashi, Shepherd H Schurman, Jun Cheng, Fabio Candotti,[...]. Am J Med Genet A 2007
21
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
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
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
Cartilage-hair hypoplasia and severe allergy.
Madhu Babu Narra, William T Shearer. J Allergy Clin Immunol 2009
Madhu Babu Narra, William T Shearer. J Allergy Clin Immunol 2009
75
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
21
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
21
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
21
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
21
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
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
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
21
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
21
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Nicholas L Rider, D Holmes Morton, Erik Puffenberger, Christine L Hendrickson, Donna L Robinson, Kevin A Strauss. Clin Immunol 2009
Nicholas L Rider, D Holmes Morton, Erik Puffenberger, Christine L Hendrickson, Donna L Robinson, Kevin A Strauss. Clin Immunol 2009
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
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
21
Radiologic changes in infancy in McKusick cartilage hair hypoplasia.
R B Glass, C J Tifft. Am J Med Genet 1999
R B Glass, C J Tifft. Am J Med Genet 1999
25
The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA.
Timur Yusufzai, Xiangduo Kong, Kyoko Yokomori, James T Kadonaga. Genes Dev 2009
Timur Yusufzai, Xiangduo Kong, Kyoko Yokomori, James T Kadonaga. Genes Dev 2009
14
Association of migraine-like headaches with Schimke immuno-osseous dysplasia.
Sara Sebnem Kilic, Osman Donmez, Emily A Sloan, Leah I Elizondo, Cheng Huang, Jean-Luc André, Radovan Bogdanovic, Sandra Cockfield, Isabel Cordeiro, Georges Deschenes,[...]. Am J Med Genet A 2005
Sara Sebnem Kilic, Osman Donmez, Emily A Sloan, Leah I Elizondo, Cheng Huang, Jean-Luc André, Radovan Bogdanovic, Sandra Cockfield, Isabel Cordeiro, Georges Deschenes,[...]. Am J Med Genet A 2005
14
Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.
R N Schimke, W A Horton, C R King. Lancet 1971
R N Schimke, W A Horton, C R King. Lancet 1971
14
The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart.
Alberto Ciccia, Andrea L Bredemeyer, Mathew E Sowa, Marie-Emilie Terret, Prasad V Jallepalli, J Wade Harper, Stephen J Elledge. Genes Dev 2009
Alberto Ciccia, Andrea L Bredemeyer, Mathew E Sowa, Marie-Emilie Terret, Prasad V Jallepalli, J Wade Harper, Stephen J Elledge. Genes Dev 2009
14
Schimke immunoosseous dysplasia: suggestions of genetic diversity.
J Marietta Clewing, Helen Fryssira, David Goodman, Sarah F Smithson, Emily A Sloan, Shu Lou, Yan Huang, Kunho Choi, Thomas Lücke, Harika Alpay,[...]. Hum Mutat 2007
J Marietta Clewing, Helen Fryssira, David Goodman, Sarah F Smithson, Emily A Sloan, Shu Lou, Yan Huang, Kunho Choi, Thomas Lücke, Harika Alpay,[...]. Hum Mutat 2007
14
The annealing helicase HARP protects stalled replication forks.
Jingsong Yuan, Gargi Ghosal, Junjie Chen. Genes Dev 2009
Jingsong Yuan, Gargi Ghosal, Junjie Chen. Genes Dev 2009
14
The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks.
Carol E Bansbach, Rémy Bétous, Courtney A Lovejoy, Gloria G Glick, David Cortez. Genes Dev 2009
Carol E Bansbach, Rémy Bétous, Courtney A Lovejoy, Gloria G Glick, David Cortez. Genes Dev 2009
14
Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.
J Spranger, G K Hinkel, H Stöss, W Thoenes, D Wargowski, F Zepp. J Pediatr 1991
J Spranger, G K Hinkel, H Stöss, W Thoenes, D Wargowski, F Zepp. J Pediatr 1991
14
Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia.
J H Ehrich, W Burchert, E Schirg, F Krull, G Offner, P F Hoyer, J Brodehl. Clin Nephrol 1995
J H Ehrich, W Burchert, E Schirg, F Krull, G Offner, P F Hoyer, J Brodehl. Clin Nephrol 1995
14
Nosology and classification of genetic skeletal disorders: 2006 revision.
Andrea Superti-Furga, Sheila Unger. Am J Med Genet A 2007
Andrea Superti-Furga, Sheila Unger. Am J Med Genet A 2007
14
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
14
A unique presentation of immuno-osseous dysplasia.
V Hubbard, A Sahota, B Callahan, S Carr, D Paige. Pediatr Dermatol 2006
V Hubbard, A Sahota, B Callahan, S Carr, D Paige. Pediatr Dermatol 2006
40
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
15
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
14
Hodgkin's lymphoma in a child with cartilage-hair hypoplasia: case report.
M A Roberts, R M Arnold. Mil Med 1984
M A Roberts, R M Arnold. Mil Med 1984
22
14
Hirschsprung disease associated with severe cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, R Rintala. J Pediatr 2001
O Mäkitie, I Kaitila, R Rintala. J Pediatr 2001
14
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
14
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
14
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
14
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
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.