A citation-based method for searching scientific literature

Luigi D Notarangelo, Chaim M Roifman, Silvia Giliani. Curr Opin Allergy Clin Immunol 2008
Times Cited: 34







List of co-cited articles
318 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
41

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
38

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
38

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
35


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
32


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
26

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
26

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
26

Bone marrow transplantation for cartilage-hair-hypoplasia.
R Guggenheim, R Somech, E Grunebaum, A Atkinson, C M Roifman. Bone Marrow Transplant 2006
29
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
23


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
32

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
23

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
20

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
20

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
20

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
32
21


Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
32
18

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Dietke Buck, Laurent Malivert, Régina de Chasseval, Anne Barraud, Marie-Claude Fondanèche, Ozden Sanal, Alessandro Plebani, Jean-Louis Stéphan, Markus Hufnagel, Françoise le Deist,[...]. Cell 2006
502
14

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
Chantal Lagresle-Peyrou, Emmanuelle M Six, Capucine Picard, Frédéric Rieux-Laucat, Vincent Michel, Andrea Ditadi, Corinne Demerens-de Chappedelaine, Estelle Morillon, Françoise Valensi, Karen L Simon-Stoos,[...]. Nat Genet 2009
132
14

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
15

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
14

Growth in cartilage-hair hypoplasia.
O Mäkitie, J Perheentupa, I Kaitila. Pediatr Res 1992
42
14

Cartilage-hair hypoplasia.
O Mäkitie, T Sulisalo, A de la Chapelle, I Kaitila. J Med Genet 1995
36
14

Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
O Mäkitie, E Marttinen, I Kaitila. Pediatr Radiol 1992
23
21

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

RNase MRP RNA and human genetic diseases.
Allison N Martin, Yong Li. Cell Res 2007
50
11


Chediak-Higashi syndrome.
Jerry Kaplan, Ivana De Domenico, Diane McVey Ward. Curr Opin Hematol 2008
185
11

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
11

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency.
Lawrence R Shiow, David W Roadcap, Kenneth Paris, Susan R Watson, Irina L Grigorova, Tonya Lebet, Jinping An, Ying Xu, Craig N Jenne, Niko Föger,[...]. Nat Immunol 2008
159
11

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
Kirsten Huck, Oliver Feyen, Tim Niehues, Franz Rüschendorf, Norbert Hübner, Hans-Jürgen Laws, Tanja Telieps, Stefan Knapp, Hans-Heinrich Wacker, Alfons Meindl,[...]. J Clin Invest 2009
186
11

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Pietro Luigi Poliani, Fabio Facchetti, Maria Ravanini, Andrew Richard Gennery, Anna Villa, Chaim M Roifman, Luigi D Notarangelo. Blood 2009
95
11

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
Ulrich Pannicke, Manfred Hönig, Isabell Hess, Claudia Friesen, Karlheinz Holzmann, Eva-Maria Rump, Thomas F Barth, Markus T Rojewski, Ansgar Schulz, Thomas Boehm,[...]. Nat Genet 2009
129
11

An immunodeficiency disease with RAG mutations and granulomas.
Catharina Schuetz, Kirsten Huck, Sonja Gudowius, Mosaad Megahed, Oliver Feyen, Bernd Hubner, Dominik T Schneider, Burkhard Manfras, Ulrich Pannicke, Rein Willemze,[...]. N Engl J Med 2008
144
11

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Alessandro Aiuti, Federica Cattaneo, Stefania Galimberti, Ulrike Benninghoff, Barbara Cassani, Luciano Callegaro, Samantha Scaramuzza, Grazia Andolfi, Massimiliano Mirolo, Immacolata Brigida,[...]. N Engl J Med 2009
660
11

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency.
Bénédicte Neven, Sandrine Leroy, Hélène Decaluwe, Francoise Le Deist, Capucine Picard, Despina Moshous, Nizar Mahlaoui, Marianne Debré, Jean-Laurent Casanova, Liliane Dal Cortivo,[...]. Blood 2009
151
11

Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
30
13

Hirschsprung disease associated with severe cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, R Rintala. J Pediatr 2001
20
20

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
Miguel A de la Fuente, Mike Recher, Nicholas L Rider, Kevin A Strauss, D Holmes Morton, Margaret Adair, Francisco A Bonilla, Hans D Ochs, Erwin W Gelfand, Itai M Pessach,[...]. J Allergy Clin Immunol 2011
24
16

The phenotype of human STK4 deficiency.
Hengameh Abdollahpour, Giridharan Appaswamy, Daniel Kotlarz, Jana Diestelhorst, Rita Beier, Alejandro A Schäffer, E Michael Gertz, Axel Schambach, Hans H Kreipe, Dietmar Pfeifer,[...]. Blood 2012
191
11

Primary immunodeficiencies in the Netherlands: national patient data demonstrate the increased risk of malignancy.
B M Jonkman-Berk, J M van den Berg, I J M Ten Berge, R G M Bredius, G J Driessen, V A S H Dalm, J T van Dissel, M van Deuren, P M Ellerbroek, M van der Flier,[...]. Clin Immunol 2015
44
11

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Michael A Spinner, Lauren A Sanchez, Amy P Hsu, Pamela A Shaw, Christa S Zerbe, Katherine R Calvo, Diane C Arthur, Wenjuan Gu, Christine M Gould, Carmen C Brewer,[...]. Blood 2014
366
11


RNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradation.
Tina Gill, Ti Cai, Jason Aulds, Sara Wierzbicki, Mark E Schmitt. Mol Cell Biol 2004
117
8

Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.
Albert C F Lam, Daniel H C Chan, Tony M F Tong, Mary H Y Tang, Steven Y F Lo, Ivan F M Lo, Stephen T S Lam. Prenat Diagn 2006
8
37

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
12


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.