A citation-based method for searching scientific literature

Christian T Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch. Am J Hum Genet 2007
Times Cited: 52



Maaret Ridanpää, Pertti Sistonen, Susanna Rockas, David L Rimoin, Outi Mäkitie, Ilkka Kaitila. Eur J Hum Genet 2002
Times Cited: 64




List of shared articles



Times cited

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

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

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

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.
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
4

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

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

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

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

'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.
Svetlana Vakkilainen, Alice Costantini, Mervi Taskinen, Ulla Wartiovaara-Kautto, Outi Mäkitie. J Med Genet 2020
3

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

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.
Christine M Hall, Becky Liu, Andrea Haworth, Laura Reed, Jeremy Pryce, Sahar Mansour. Eur J Med Genet 2021
0

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

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

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