A citation-based method for searching scientific literature

Svetlana Kostjukovits, Sofie Degerman, Minna Pekkinen, Paula Klemetti, Mattias Landfors, Göran Roos, Mervi Taskinen, Outi Mäkitie. J Med Genet 2017
Times Cited: 13







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



Times Cited
  Times     Co-cited
Similarity



Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.
Svetlana Kostjukovits, Paula Klemetti, Helena Valta, Timi Martelius, Luigi D Notarangelo, Mikko Seppänen, Mervi Taskinen, Outi Mäkitie. J Allergy Clin Immunol 2017
15
61

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
304
46

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
13
46

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
38

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
62

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
62
38


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
66
38

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
30

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
35
30

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
40

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
56
30

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
57

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
96
23

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
23


Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism.
Harshithaa Thavarajah, Anne Berndl. Case Rep Obstet Gynecol 2017
4
75

Growth in cartilage-hair hypoplasia.
O Mäkitie, J Perheentupa, I Kaitila. Pediatr Res 1992
43
23

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
23


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
100

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
Winnie Ip, H Bobby Gaspar, Robert Kleta, Estelle Chanudet, Chiara Bacchelli, Alison Pitts, Zohreh Nademi, E Graham Davies, Mary A Slatter, Persis Amrolia,[...]. J Clin Immunol 2015
7
42

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

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
100

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
23

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
23

LncRNA-RMRP promotes carcinogenesis by acting as a miR-206 sponge and is used as a novel biomarker for gastric cancer.
Yongfu Shao, Meng Ye, Qier Li, Weiliang Sun, Guoliang Ye, Xinjun Zhang, Yunben Yang, Bingxiu Xiao, Junming Guo. Oncotarget 2016
126
23

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
75
23

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
266
23

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
42

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
100

Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.
Justine Bacchetta, Bruno Ranchin, Anne Sophie Brunet, Raymonde Bouvier, Agnès Duquesne, Patrick Edery, Nicole Fabien, Noël Peretti. Pediatr Nephrol 2009
10
20

Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.
O M Mäkitie, P J Tapanainen, L Dunkel, M A Siimes. Ann Med 2001
18
15

Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases.
Elina Holopainen, Svetlana Vakkilainen, Outi Mäkitie. J Pediatr Adolesc Gynecol 2018
2
100

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
15

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
15

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
32
15

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
15

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
50

Increased mortality in cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, I Kaitila. Arch Dis Child 2001
32
15

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis.
Outi Mäkitie, Marja Heikkinen, Ilkka Kaitila, Risto Rintala. J Pediatr Surg 2002
21
15

Deficiency of humoral immunity in cartilage-hair hypoplasia.
O Mäkitie, I Kaitila, E Savilahti. J Pediatr 2000
41
15

[Characteristic of recent fetal growth curves in Finland].
J Pihkala, T Hakala, P Voutilainen, K Raivio. Duodecim 1989
263
15

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
15

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
15

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
30
15



Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.
E Juvonen, O Mäkitie, A Mäkipernaa, T Ruutu, I Kaitila, J Rajantie. Eur J Pediatr 1995
14
15


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.