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6. Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia. Sánchez-Corona J; García-Cruz D; Medina C; Cantú JM; Ramos-Zepeda R; Rivas F Ann Genet; 1990; 33(2):99-102. PubMed ID: 2241093 [TBL] [Abstract][Full Text] [Related]
7. An inverted ratio for T-helper/T-suppressor cells, and selective deficiency of cell-mediated immunity, in a girl with cartilage hair hypoplasia. Steffensen O; Ostergaard PA Eur J Pediatr; 1980 Oct; 135(1):55-8. PubMed ID: 6450048 [TBL] [Abstract][Full Text] [Related]
8. Deficiency of humoral immunity in cartilage-hair hypoplasia. Mäkitie O; Kaitila I; Savilahti E J Pediatr; 2000 Oct; 137(4):487-92. PubMed ID: 11035826 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 6806374 [TBL] [Abstract][Full Text] [Related]
10. Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2. Yel L; Aggarwal S; Gupta S J Clin Immunol; 1999 Nov; 19(6):428-34. PubMed ID: 10634217 [TBL] [Abstract][Full Text] [Related]
11. [Metaphyseal chondrodysplasia of the McKusick type (cartilage-hair hypoplasia)]. Seige M Monatsschr Kinderheilkd (1902); 1980 Mar; 128(3):157-9. PubMed ID: 7366585 [TBL] [Abstract][Full Text] [Related]
12. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Thiel CT; Mortier G; Kaitila I; Reis A; Rauch A Am J Hum Genet; 2007 Sep; 81(3):519-29. PubMed ID: 17701897 [TBL] [Abstract][Full Text] [Related]
13. Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases. Solé D; Leser PG; Soares D; Naspitz CK Rev Paul Med; 1993; 111(1):314-9. PubMed ID: 8235252 [TBL] [Abstract][Full Text] [Related]
14. Trichothiodystrophy without retardation: one patient exhibiting transient combined immunodeficiency syndrome. Baden HP; Katz A Pediatr Dermatol; 1988 Nov; 5(4):257-9. PubMed ID: 3231584 [TBL] [Abstract][Full Text] [Related]
15. In vitro T- and B-cell reactivity in cartilage hair hypoplasia. Ranki A; Perheentupa J; Andersson LC; Häyry P Clin Exp Immunol; 1978 May; 32(2):352-60. PubMed ID: 307470 [TBL] [Abstract][Full Text] [Related]
16. Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. Conwell LS; Hermanns P; Zankl A J Pediatr Endocrinol Metab; 2008 Mar; 21(3):209-11. PubMed ID: 18540246 [No Abstract] [Full Text] [Related]
17. Cartilage-hair-hypoplasia and Hodgkin disease. Gorlin RJ Am J Med Genet; 1992 Nov; 44(4):539. PubMed ID: 1442902 [No Abstract] [Full Text] [Related]
19. Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. Berthet F; Siegrist CA; Ozsahin H; Tuchschmid P; Eich G; Superti-Furga A; Seger RA Eur J Pediatr; 1996 Apr; 155(4):286-90. PubMed ID: 8777921 [TBL] [Abstract][Full Text] [Related]
20. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. Mäkitie O J Med Genet; 1992 Sep; 29(9):652-5. PubMed ID: 1404295 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]