A citation-based method for searching scientific literature

Svetlana Vakkilainen, Alice Costantini, Mervi Taskinen, Ulla Wartiovaara-Kautto, Outi Mäkitie. J Med Genet 2020
Times Cited: 3







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



Times Cited
  Times     Co-cited
Similarity



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
90
66

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
66

A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia.
Svetlana Vakkilainen, Mervi Taskinen, Paula Klemetti, Eero Pukkala, Outi Mäkitie. Front Immunol 2019
12
66

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.
Catherine M Biggs, Svetlana Kostjukovits, Kerry Dobbs, Saila Laakso, Paula Klemetti, Helena Valta, Mervi Taskinen, Outi Mäkitie, Luigi D Notarangelo. J Clin Immunol 2017
2
50

Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.
Julia Horn, Michael Schlesier, Klaus Warnatz, Antje Prasse, Andrea Superti-Furga, Hans-Hartmut Peter, Ulrich Salzer. Hum Immunol 2010
6
33


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
71
33

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
Leslie E Rogler, Brian Kosmyna, David Moskowitz, Remon Bebawee, Joseph Rahimzadeh, Katrina Kutchko, Alain Laederach, Luigi D Notarangelo, Silvia Giliani, Eric Bouhassira,[...]. Hum Mol Genet 2014
60
33


Rmrp Mutation Disrupts Chondrogenesis and Bone Ossification in Zebrafish Model of Cartilage-Hair Hypoplasia via Enhanced Wnt/β-Catenin Signaling.
Xianding Sun, Ruobin Zhang, Mi Liu, Hangang Chen, Liang Chen, Fengtao Luo, Dali Zhang, Junlan Huang, Fangfang Li, Zhenhong Ni,[...]. J Bone Miner Res 2019
10
33

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
33

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
33

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.
Svetlana Vakkilainen, Riikka Mäkitie, Paula Klemetti, Helena Valta, Mervi Taskinen, Eystein Sverre Husebye, Outi Mäkitie. Front Immunol 2018
7
33

Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis.
Sanna Toiviainen-Salo, Merja Kajosaari, Anneli Piilonen, Outi Mäkitie. J Pediatr 2008
10
33

Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
32
33


Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis.
Outi Mäkitie, Marja Heikkinen, Ilkka Kaitila, Risto Rintala. J Pediatr Surg 2002
21
33

Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.
Tim J M Welting, Sandy Mattijssen, Florence M A Peters, Nienke L van Doorn, Lianne Dekkers, Walther J van Venrooij, Hans A Heus, Luisa Bonafé, Ger J M Pruijn. Biochim Biophys Acta 2008
19
33


Decreased telomere length in children with cartilage-hair hypoplasia.
Svetlana Kostjukovits, Sofie Degerman, Minna Pekkinen, Paula Klemetti, Mattias Landfors, Göran Roos, Mervi Taskinen, Outi Mäkitie. J Med Genet 2017
13
33

Diagnostic utility of telomere length testing in a hospital-based setting.
Jonathan K Alder, Vidya Sagar Hanumanthu, Margaret A Strong, Amy E DeZern, Susan E Stanley, Clifford M Takemoto, Ludmila Danilova, Carolyn D Applegate, Stephen G Bolton, David W Mohr,[...]. Proc Natl Acad Sci U S A 2018
74
33

Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis.
D Sathishkumar, J E Gach, M Ogboli, M Desai, T Cole, W Högler, J Motwani, A Norton, B Morland, I Colmenero. Clin Exp Dermatol 2018
3
33

The immune response and its therapeutic modulation in bronchiectasis.
Massoud Daheshia, James D Prahl, Jacob J Carmichael, John S Parrish, Gilbert Seda. Pulm Med 2012
6
33

Respiratory symptoms and asthma in relation to cold climate, inhaled allergens, and irritants: a comparison between northern and southern Finland.
Jyrki-Tapani Kotaniemi, Paula Pallasaho, Anssi R A Sovijärvi, Lauri A Laitinen, Bo Lundbäck. J Asthma 2002
23
33

Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia.
Alexandre Nguyen, Nicolas Martin Silva, Hubert de Boysson, Gandhi Damaj, Achille Aouba. Swiss Med Wkly 2018
3
33

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
73
33

Combating cancer predisposition in association with idiopathic immune deficiency: a recurrent nodal and cutaneous T-cell lymphoproliferative disease in a patient with cartilage-hair hypoplasia.
Mervi Taskinen, Leila Jeskanen, Marja-Liisa Karjalainen-Lindsberg, Antti Mäkitie, Outi Mäkitie, Annamari Ranki. Clin Lymphoma Myeloma Leuk 2013
9
33

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, P J Mason, I Dokal. Nature 2001
681
33

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
33

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
261
33

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
15
33


[Cartilage-hair hypoplasia--much more than growth problem].
Mervi Taskinen, Outi Mäkitie. Duodecim 2011
1
100

High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia.
Svetlana Kostjukovits, Paula Klemetti, Anna Föhr, Merja Kajosaari, Helena Valta, Mervi Taskinen, Sanna Toiviainen-Salo, Outi Mäkitie. J Allergy Clin Immunol 2017
8
33

Increased risk of hematologic malignancies in primary immunodeficiency disorders: opportunities for immunotherapy.
Dorit Verhoeven, Arie Jan Stoppelenburg, Friederike Meyer-Wentrup, Marianne Boes. Clin Immunol 2018
14
33

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
33

Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs.
Despina Moshous, Isabelle Meyts, Sylvie Fraitag, Carl E I Janssen, Marianne Debré, Felipe Suarez, Jaan Toelen, Kris De Boeck, Tania Roskams, Antoine Deschildre,[...]. J Allergy Clin Immunol 2011
16
33

The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2.
Svetlana Vakkilainen, Tiina Skoog, Elisabet Einarsdottir, Anna Middleton, Minna Pekkinen, Tiina Öhman, Shintaro Katayama, Kaarel Krjutškov, Panu E Kovanen, Markku Varjosalo,[...]. Sci Rep 2019
7
33

Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders.
Fabian Hauck, Rebecca Voss, Christian Urban, Markus G Seidel. J Allergy Clin Immunol 2018
52
33

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
264
33

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
Maria E Gomes, Luiza Calatrava Paternostro, Valéria R Moura, Deborah Antunes, Ernesto R Caffarena, Dafne Horovitz, Maria T Sanseverino, Gabriela Ferraz Leal, Têmis M Felix, Denise Pontes Cavalcanti,[...]. Mol Syndromol 2020
1
100

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
33

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
23
33

Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia.
Geraldine Aubert, Kevin A Strauss, Peter M Lansdorp, Nicholas L Rider. J Allergy Clin Immunol 2017
10
33

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
33

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
P Klemetti, H Valta, S Kostjukovits, M Taskinen, S Toiviainen-Salo, O Mäkitie. Clin Genet 2017
4
33

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Evgeny A Glazov, Andreas Zankl, Marina Donskoi, Tony J Kenna, Gethin P Thomas, Graeme R Clark, Emma L Duncan, Matthew A Brown. PLoS Genet 2011
53
33

RNase MRP and disease.
Sandy Mattijssen, Tim J M Welting, Ger J M Pruijn. Wiley Interdiscip Rev RNA 2010
34
33

Malignancies after hematopoietic cell transplantation for primary immune deficiencies: a report from the Center for International Blood and Marrow Transplant Research.
Naynesh R Kamani, Shimareet Kumar, Anna Hassebroek, Mary Eapen, Jennifer LeRademacher, James Casper, Morton Cowan, José Sánchez de Toledo, Alina Ferster, Paul Szabolcs,[...]. Biol Blood Marrow Transplant 2011
19
33


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.