A citation-based method for searching scientific literature

Fotini D Kavadas, Silvia Giliani, Yiping Gu, Evelina Mazzolari, Andrea Bates, Eleonora Pegoiani, Chaim M Roifman, Luigi D Notarangelo. J Allergy Clin Immunol 2008
Times Cited: 35



M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas, O Mäkitie, I Kaitila, A de la Chapelle. Cell 2001
Times Cited: 297




List of shared articles



Times cited

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

Conserved and variable domains of RNase MRP RNA.
Marcela Dávila López, Magnus Alm Rosenblad, Tore Samuelsson. RNA Biol 2009
36

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

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

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

Educational paper: syndromic forms of primary immunodeficiency.
Rogier Kersseboom, Alice Brooks, Corry Weemaes. Eur J Pediatr 2011
8

Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management.
Svetlana Vakkilainen, Mervi Taskinen, Outi Mäkitie. Scand J Immunol 2020
3

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

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

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


Omenn syndrome does not live by V(D)J recombination alone.
Veronica Marrella, Virginia Maina, Anna Villa. Curr Opin Allergy Clin Immunol 2011
25

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

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
Svetlana Vakkilainen, Paula Klemetti, Timi Martelius, Mikko Jr Seppänen, Outi Mäkitie, Sanna Toiviainen-Salo. J Clin Immunol 2021
0

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.
Ethan M Scott, Sharat Chandra, Jinzhu Li, Eric D Robinette, Miraides F Brown, Olivia K Wenger. J Clin Immunol 2020
2

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.
N Vatanavicharn, N Visitsunthorn, T Pho-iam, O Jirapongsananuruk, P Pacharn, K Chokephaibulkit, C Limwongse, P Wasant. J Appl Genet 2010
3

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.
Ankur Singh, Rajeshwari Krishnan, Malobika Bhattacharya, Gaurav Pradhan, Ulrich Salzer, Seema Kapoor. Indian J Gastroenterol 2013
1

Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.
Sandy Mattijssen, Ella R Hinson, Carla Onnekink, Pia Hermanns, Bernhard Zabel, Peter Cresswell, Ger J M Pruijn. Cell Mol Life Sci 2011
20

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