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Results: 1 to 20 of 95

1.

Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia.

Mäkitie O, Kaitila I, Savilahti E.

Eur J Pediatr. 1998 Oct;157(10):816-20.

PMID:
9809821
[PubMed - indexed for MEDLINE]
2.

T cell subsets and T cell function in cartilage-hair hypoplasia.

Kooijman R, van der Burgt CJ, Weemaes CM, Haraldsson A, Scholtens EJ, Zegers BJ.

Scand J Immunol. 1997 Aug;46(2):209-15.

PMID:
9584003
[PubMed - indexed for MEDLINE]
3.

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. Epub 2006 Jun 23.

PMID:
17015150
[PubMed - indexed for MEDLINE]
4.

Cartilage-hair hypoplasia associated with IgG2 deficiency.

Kawasaki H, Kohdera U, Taniuchi S, Kobayashi Y.

Acta Paediatr Jpn. 1995 Dec;37(6):703-5.

PMID:
8775556
[PubMed - indexed for MEDLINE]
5.

Increased mortality in cartilage-hair hypoplasia.

Mäkitie O, Pukkala E, Kaitila I.

Arch Dis Child. 2001 Jan;84(1):65-67.

PMID:
11124791
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Lymphocyte dysfunction in cartilage-hair hypoplasia: evidence for an intrinsic defect in cellular proliferation.

Pierce GF, Polmar SH.

J Immunol. 1982 Aug;129(2):570-5.

PMID:
6806374
[PubMed - indexed for MEDLINE]
7.

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Friedrich W, Wulfraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M, Bredius RG, Notarangelo LD, Mazzolari E, Neven B, Güngör T; Inborn Error Working Party of the European Bone Marrow Transplantation (EBMT) group.

Blood. 2010 Jul 8;116(1):27-35. doi: 10.1182/blood-2010-01-259168. Epub 2010 Apr 7. Erratum in: Blood. 2011 Feb 10;117(6):2077. Cavazanna-Calvo, Marina [corrected to Cavazzana-Calvo, Marina]. Blood. 2010 Sep 30;116(13):2402. Waseem, Qasim [corrected to Qasim, Waseem];Tayfun, Güngör [corrected to Güngör, Tayfun].

PMID:
20375313
[PubMed - indexed for MEDLINE]
Free Article
8.

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):139-46. doi: 10.1016/j.jaci.2011.03.042. Epub 2011 May 13.

PMID:
21570718
[PubMed - indexed for MEDLINE]
9.

Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia.

Mäkitie O, Rajantie J, Kaitila I.

Acta Paediatr. 1992 Dec;81(12):1026-9.

PMID:
1290847
[PubMed - indexed for MEDLINE]
10.

Cartilage hair hypoplasia: immunological aspects and their clinical implications.

Polmar SH, Pierce GF.

Clin Immunol Immunopathol. 1986 Jul;40(1):87-93. Review.

PMID:
3521972
[PubMed - indexed for MEDLINE]
11.

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma.

Taskinen M, Ranki A, Pukkala E, Jeskanen L, Kaitila I, Mäkitie O.

Am J Med Genet A. 2008 Sep 15;146A(18):2370-5. doi: 10.1002/ajmg.a.32478.

PMID:
18698627
[PubMed - indexed for MEDLINE]
12.

Association of T cell dysfunction with the presence of IgG autoantibodies on CD4+ lymphocytes in haemophilia patients; results of a 10-year study.

Daniel V, Süsal C, Weimer R, Zipperle S, Kröpelin M, Zimmermann R, Huth-Kühne A, Opelz G.

Clin Exp Immunol. 1996 Apr;104(1):4-10.

PMID:
8603531
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia.

Pierce GF, Brovall C, Schacter BZ, Polmar SH.

J Clin Invest. 1983 Jun;71(6):1737-43.

PMID:
6223049
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[Cartilage-hair hypoplasia--much more than growth problem].

Taskinen M, Mäkitie O.

Duodecim. 2011;127(3):273-9. Review. Finnish.

PMID:
21438350
[PubMed - indexed for MEDLINE]
15.

Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia.

Juvonen E, Mäkitie O, Mäkipernaa A, Ruutu T, Kaitila I, Rajantie J.

Eur J Pediatr. 1995 Jan;154(1):30-4.

PMID:
7895753
[PubMed - indexed for MEDLINE]
16.

[The role of immune deficiency in cartilage-hair hypoplasia].

Mäkitie O, Kaitila I, Pukkala E, Teppo L, Savilahti E.

Duodecim. 2000;116(12):1299-305; quiz 1305, 1308. Finnish. No abstract available.

PMID:
11988965
[PubMed - indexed for MEDLINE]
17.

[Two-color flow cytometry analysis of lymphocyte subsets in patients with acute myocardial infarction and post-myocardial infarction syndrome].

Tsuchihashi M, Sakaguchi Y, Nakamura M, Sutani T, Tsuruta S, Kato S, Uemura S, Nishida Y, Hashimoto T, Kagoshima T, et al.

J Cardiol. 1995 Aug;26(2):69-79. Japanese.

PMID:
7674146
[PubMed - indexed for MEDLINE]
18.

[Immunologic reconstitution of peripheral blood lymphocytes in patients treated by bone marrow transplantation].

Parra C, Roldán E, Rodríguez C, Pérez de Oteyza J, Otheo E, López J, Maldonado MS, García Laraña J, Muñoz A, Odriozola J, Brieva JA.

Med Clin (Barc). 1996 Feb 10;106(5):169-73. Spanish.

PMID:
8684015
[PubMed - indexed for MEDLINE]
19.

Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases.

Solé D, Leser PG, Soares D, Naspitz CK.

Rev Paul Med. 1993 Jan-Feb;111(1):314-9.

PMID:
8235252
[PubMed - indexed for MEDLINE]
20.

Cell numbers and in vitro responses of leucocytes and lymphocyte subpopulations following maximal exercise and interval training sessions of different intensities.

Fry RW, Morton AR, Crawford GP, Keast D.

Eur J Appl Physiol Occup Physiol. 1992;64(3):218-27.

PMID:
1563367
[PubMed - indexed for MEDLINE]

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