A citation-based method for searching scientific literature

R Guggenheim, R Somech, E Grunebaum, A Atkinson, C M Roifman. Bone Marrow Transplant 2006
Times Cited: 29







List of co-cited articles
210 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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
48


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
32
37


Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
32
31

Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
41
31

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
31

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
69
27

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
27

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
27


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
34
27

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.
Victoria Bordon, Andrew R Gennery, Mary A Slatter, Els Vandecruys, Genevieve Laureys, Paul Veys, Waseem Qasim, Wilhelm Friedrich, Nico M Wulfraat, Franziska Scherer,[...]. Blood 2010
34
27

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
39
24

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
24

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
25
28

Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99.
Corinne Antoine, Susanna Müller, Andrew Cant, Marina Cavazzana-Calvo, Paul Veys, Jaak Vossen, Anders Fasth, Carsten Heilmann, Nicolas Wulffraat, Reinhard Seger,[...]. Lancet 2003
391
20

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
20

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
25
24

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
55
20

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.
R H Buckley, S E Schiff, R I Schiff, L Markert, L W Williams, J L Roberts, L A Myers, F E Ward. N Engl J Med 1999
490
17


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
48
17

Cartilage-hair hypoplasia.
O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila. J Med Genet 1995
36
17


Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.
Fotini D Kavadas, Silvia Giliani, Yiping Gu, Evelina Mazzolari, Andrea Bates, Eleonora Pegoiani, Chaim M Roifman, Luigi D Notarangelo. J Allergy Clin Immunol 2008
35
17

Bone marrow transplantation for severe combined immune deficiency.
Eyal Grunebaum, Evelina Mazzolari, Fulvio Porta, Daniela Dallera, Adelle Atkinson, Brenda Reid, Luigi D Notarangelo, Chaim M Roifman. JAMA 2006
155
13




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
28
14

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
17
23



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
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
13
30

Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation.
O Baud, O Goulet, D Canioni, F Le Deist, I Radford, D Rieu, S Dupuis-Girod, N Cerf-Bensussan, M Cavazzana-Calvo, N Brousse,[...]. N Engl J Med 2001
160
13

Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002.
Andrew R Gennery, Khulood Khawaja, Paul Veys, Robbert G M Bredius, Luigi D Notarangelo, Evelina Mazzolari, Alain Fischer, Paul Landais, Marina Cavazzana-Calvo, Wilhelm Friedrich,[...]. Blood 2004
81
13

Growth in cartilage-hair hypoplasia.
O Mäkitie, J Perheentupa, I Kaitila. Pediatr Res 1992
42
13

Graft dysfunction and delayed immune reconstitution following haploidentical peripheral blood hematopoietic stem cell transplantation.
L M Ball, A C Lankester, R G M Bredius, W E Fibbe, M J D van Tol, R M Egeler. Bone Marrow Transplant 2005
33
10

Novel RAG1 mutation in a case of severe combined immunodeficiency.
Junyan Zhang, Linda Quintal, Adelle Atkinson, Brent Williams, Eyal Grunebaum, Chaim M Roifman. Pediatrics 2005
16
18

An interleukin-2 receptor gamma chain mutation with normal thymus morphology.
N Sharfe, M Shahar, C M Roifman. J Clin Invest 1997
72
10

Matched unrelated bone marrow transplantation for combined immunodeficiency.
I Dalal, B Reid, J Doyle, M Freedman, S Calderwood, F Saunders, C M Roifman. Bone Marrow Transplant 2000
36
10


Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team.
Y Tsuji, K Imai, M Kajiwara, Y Aoki, T Isoda, D Tomizawa, M Imai, S Ito, H Maeda, Y Minegishi,[...]. Bone Marrow Transplant 2006
43
10

Impact of HLA matching on outcome of hematopoietic stem cell transplantation in children with inherited diseases: a single-center comparative analysis of genoidentical, haploidentical or unrelated donors.
S Caillat-Zucman, F Le Deist, E Haddad, M Gannagé, L Dal Cortivo, N Jabado, S Hacein-Bey-Abina, S Blanche, J-L Casanova, A Fischer,[...]. Bone Marrow Transplant 2004
30
10


Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
L D Notarangelo, S Giliani, C Mazza, P Mella, G Savoldi, C Rodriguez-Pérez, E Mazzolari, M Fiorini, M Duse, A Plebani,[...]. Immunol Rev 2000
68
10

Neutropenia associated with primary immunodeficiency syndromes.
Bonnie Cham, Mary Ann Bonilla, Jerry Winkelstein. Semin Hematol 2002
45
10

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