A citation-based method for searching scientific literature

Marie Crahes, Pascale Saugier-Veber, Sophie Patrier, Moutaz Aziz, Nathalie Pirot, Marie Brasseur-Daudruy, Valérie Layet, Thierry Frébourg, Annie Laquerrière. Eur J Med Genet 2013
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


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
75

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
266
75

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
75

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Christian T Thiel, Anita Rauch. Best Pract Res Clin Endocrinol Metab 2011
32
50

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
50

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
50


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
29
50

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
50

Increased incidence of cancer in patients with cartilage-hair hypoplasia.
O Mäkitie, E Pukkala, L Teppo, I Kaitila. J Pediatr 1999
62
25

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.
Gülten Türkkani-Asal, Yasemin Alanay, Tuba Turul-Ozgür, Martin Zenker, Christian Thiel, Anita Rauch, Sule Unal, Aytemiz Gürgey, Ilhan Tezcan. Turk J Pediatr 2009
6
25

Defining combined immunodeficiency.
Chaim M Roifman, Raz Somech, Fotini Kavadas, Linda Pires, Amit Nahum, Ilan Dalal, Eyal Grunebaum. J Allergy Clin Immunol 2012
62
25

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
25

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
70
25

Classification of primary immunodeficiencies: need for a revised approach?
Paraskevi Maggina, Andrew R Gennery. J Allergy Clin Immunol 2013
6
25

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
25

Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.
Andrea Kwan, M A Manning, Linda K Zollars, H Eugene Hoyme. Am J Med Genet A 2012
11
25

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation.
Adrian Liston, Anselm Enders, Owen M Siggs. Nat Rev Immunol 2008
91
25

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Helen Chapel, Mary Ellen Conley, Charlotte Cunningham-Rundles, Amos Etzioni, Alain Fischer, Jose Luis Franco, Raif S Geha,[...]. Front Immunol 2011
252
25

Long non-coding RNAs: a new frontier in the study of human diseases.
Xuefei Shi, Ming Sun, Hongbing Liu, Yanwen Yao, Yong Song. Cancer Lett 2013
821
25

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
25

Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.
O Mäkitie, J Rajantie, I Kaitila. Acta Paediatr 1992
30
25

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
25

Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia.
R A Gatti, N Platt, H H Pomerance, R Hong, L O Langer, H E Kay, R A Good. J Pediatr 1969
124
25

Granulomatous reaction in an infant with combined immunodeficiency disease and short-limbed dwarfism.
S P Gotoff, N B Esterly, E Gottbrath, E J Liebner, S R Lajvardi. J Pediatr 1972
17
25

The role of the innate immune system in granulomatous disorders.
Helen J Petersen, Andrew M Smith. Front Immunol 2013
41
25

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
25

Recognizable phenotypes associated with intracranial calcification.
John H Livingston, Stavros Stivaros, Marjo S van der Knaap, Yanick J Crow. Dev Med Child Neurol 2013
52
25

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
33
25

Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
D Horn, E Rupprecht, J Kunze, J Spranger. J Med Genet 2001
17
25


Occurrence of basal ganglia germ cell tumors without a mass.
Salah Almubarak, Yee-Chiung Gan, Paul Steinbok, Glenda Hendson, Ken Poskitt, Helen Nadel, Karen Goddard, Juliette Hukin. Arch Neurol 2009
4
25


Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism.
Ravinder Goswami, Raju Sharma, Vishnubhatla Sreenivas, Nandita Gupta, Arthi Ganapathy, Sathi Das. Clin Endocrinol (Oxf) 2012
104
25

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
25

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
Gaël Nicolas, Cyril Pottier, David Maltête, Sophie Coutant, Anne Rovelet-Lecrux, Solenn Legallic, Stéphane Rousseau, Yvan Vaschalde, Lucie Guyant-Maréchal, Jérôme Augustin,[...]. Neurology 2013
175
25

Intracranial calcifications on CT.
Yılmaz Kıroğlu, Cem Callı, Nevzat Karabulut, Cağatay Oncel. Diagn Interv Radiol 2010
66
25

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
Yan Liu, Li Wang, Yi-Ke Yang, Ying Liang, Tie-Juan Zhang, Na Liang, Li-Man Yang, Si-Jing Li, Dan Shan, Qing-Qing Wu. Diagn Pathol 2019
15
25

Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.
Kathryn S Milks, Lyndon M Hill, Keyanoosh Hosseinzadeh. Pediatr Radiol 2017
23
25

International standards for fetal growth based on serial ultrasound measurements: the Fetal Growth Longitudinal Study of the INTERGROWTH-21st Project.
Aris T Papageorghiou, Eric O Ohuma, Douglas G Altman, Tullia Todros, Leila Cheikh Ismail, Ann Lambert, Yasmin A Jaffer, Enrico Bertino, Michael G Gravett, Manorama Purwar,[...]. Lancet 2014
380
25


Pre- and post-natal growth in two sisters with 3-M syndrome.
Licia Lugli, Emma Bertucci, Vincenzo Mazza, Amira Elmakky, Fabrizio Ferrari, Christine Neuhaus, Antonio Percesepe. Eur J Med Genet 2016
10
25

Fetal skeletal dysplasias: sonographic indices associated with adverse outcomes.
David B Nelson, Jodi S Dashe, Donald D McIntire, Diane M Twickler. J Ultrasound Med 2014
12
25

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
25

Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis.
J S Dungan, D S Emerson, O P Phillips, L P Shulman. Fetal Diagn Ther 1996
5
25

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.
Patrick Riley, Dennis S Weiner, Bonnie Leighley, David Jonah, D Holmes Morton, Kevin A Strauss, Michael B Bober, Martin S Dicintio. J Child Orthop 2015
5
25

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
72
25

The World Health Organization Fetal Growth Charts: A Multinational Longitudinal Study of Ultrasound Biometric Measurements and Estimated Fetal Weight.
Torvid Kiserud, Gilda Piaggio, Guillermo Carroli, Mariana Widmer, José Carvalho, Lisa Neerup Jensen, Daniel Giordano, José Guilherme Cecatti, Hany Abdel Aleem, Sameera A Talegawkar,[...]. PLoS Med 2017
231
25

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
25



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.