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



Luigi D Notarangelo, Chaim M Roifman, Silvia Giliani. Curr Opin Allergy Clin Immunol 2008
Times Cited: 34




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

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: 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

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

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

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

Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
Liza J McCann, Jo McPartland, Dawn Barge, Lisa Strain, David Bourn, Eduardo Calonje, Julian Verbov, Andrew Riordan, George Kokai, Chris M Bacon,[...]. J Clin Immunol 2014
6

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

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

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

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

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