These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? Garcia-Tarodo S; Bottani A; Merlini L; Kaelin A; Schwitzgebel VM; Parvex P; Dayer R; Lascombes P; Korff CM Eur J Paediatr Neurol; 2015 May; 19(3):367-71. PubMed ID: 25596067 [TBL] [Abstract][Full Text] [Related]
12. 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. Vatanavicharn N; Visitsunthorn N; Pho-iam T; Jirapongsananuruk O; Pacharn P; Chokephaibulkit K; Limwongse C; Wasant P J Appl Genet; 2010; 51(4):523-8. PubMed ID: 21063072 [TBL] [Abstract][Full Text] [Related]
13. Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients. Kainulainen L; Lassila O; Ruuskanen O J Clin Immunol; 2014 Feb; 34(2):256-9. PubMed ID: 24402619 [TBL] [Abstract][Full Text] [Related]
14. Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. Kwan A; Manning MA; Zollars LK; Hoyme HE Am J Med Genet A; 2012 Nov; 158A(11):2911-6. PubMed ID: 22987807 [TBL] [Abstract][Full Text] [Related]
15. Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females. Holopainen E; Vakkilainen S; Mäkitie O Am J Med Genet A; 2019 Feb; 179(2):190-195. PubMed ID: 30561899 [TBL] [Abstract][Full Text] [Related]
16. 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. Taskinen M; Jeskanen L; Karjalainen-Lindsberg ML; Mäkitie A; Mäkitie O; Ranki A Clin Lymphoma Myeloma Leuk; 2013 Feb; 13(1):73-6. PubMed ID: 22999941 [No Abstract] [Full Text] [Related]
17. A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia. Vakkilainen S; Mäkitie R; Klemetti P; Valta H; Taskinen M; Husebye ES; Mäkitie O Front Immunol; 2018; 9():2468. PubMed ID: 30410491 [No Abstract] [Full Text] [Related]
18. A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. Muñoz-Robles J; Allende LM; Clemente J; Calleja S; Varela P; Gonzalez L; de Pablos P; Paz E; Morales P Immunobiology; 2006; 211(9):753-7. PubMed ID: 17015150 [TBL] [Abstract][Full Text] [Related]
19. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. de la Fuente MA; Recher M; Rider NL; Strauss KA; Morton DH; Adair M; Bonilla FA; Ochs HD; Gelfand EW; Pessach IM; Walter JE; King A; Giliani S; Pai SY; Notarangelo LD J Allergy Clin Immunol; 2011 Jul; 128(1):139-146. PubMed ID: 21570718 [TBL] [Abstract][Full Text] [Related]
20. Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases. Holopainen E; Vakkilainen S; Mäkitie O J Pediatr Adolesc Gynecol; 2018 Aug; 31(4):422-425. PubMed ID: 29462708 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]