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2. A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene. Schmucker B; Meindl A; Achatz H; Mittermüller J; Krüger G; Hergersberg M; Spiegel R; Schinzel A; Belohradsky BH; Murken J Immunodeficiency; 1995; 5(3):187-92. PubMed ID: 7749438 [TBL] [Abstract][Full Text] [Related]
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4. X chromosome inactivation patterns in haematopoietic cells of female carriers of X-linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus. Hendriks RW; Kraakman ME; Schuurman RK Clin Genet; 1992 Sep; 42(3):114-21. PubMed ID: 1395081 [TBL] [Abstract][Full Text] [Related]
5. Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells. Alterman LA; de Alwis M; Genet S; Lovering R; Middleton-Price H; Morgan G; Jones A; Malcolm S; Levinsky RJ; Kinnon C J Immunol Methods; 1993 Nov; 166(1):111-6. PubMed ID: 8228281 [TBL] [Abstract][Full Text] [Related]
6. Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. Puck JM; Stewart CC; Nussbaum RL Am J Hum Genet; 1992 Apr; 50(4):742-8. PubMed ID: 1550118 [TBL] [Abstract][Full Text] [Related]
7. Nonrandom X chromosome inactivation in natural killer cells from obligate carriers of X-linked severe combined immunodeficiency. Wengler GS; Allen RC; Parolini O; Smith H; Conley ME J Immunol; 1993 Jan; 150(2):700-4. PubMed ID: 8093460 [TBL] [Abstract][Full Text] [Related]
8. Carrier detection in X-linked immunodeficiencies. I: A PCR-based X chromosome inactivation assay at the MAOA locus. Hendriks RW; Chen ZY; Hinds H; Schuurman RK; Craig IW Immunodeficiency; 1993; 4(1-4):209-11. PubMed ID: 8167702 [TBL] [Abstract][Full Text] [Related]
9. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. Schmalstieg FC; Leonard WJ; Noguchi M; Berg M; Rudloff HE; Denney RM; Dave SK; Brooks EG; Goldman AS J Clin Invest; 1995 Mar; 95(3):1169-73. PubMed ID: 7883965 [TBL] [Abstract][Full Text] [Related]
10. Patterns of X chromosome inactivation in haematopoietic cells of female carriers of X linked severe combined immunodeficiency. Hendriks RW; Kraakman ME; Schuurman RK Immunodeficiency; 1993; 4(1-4):263-5. PubMed ID: 8167715 [TBL] [Abstract][Full Text] [Related]
11. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Allen RC; Nachtman RG; Rosenblatt HM; Belmont JW Am J Hum Genet; 1994 Jan; 54(1):25-35. PubMed ID: 7506482 [TBL] [Abstract][Full Text] [Related]
12. The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling. Leonard WJ Annu Rev Med; 1996; 47():229-39. PubMed ID: 8712778 [TBL] [Abstract][Full Text] [Related]
13. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization. Puck JM; Middelton L; Pepper AE Hum Genet; 1997 May; 99(5):628-33. PubMed ID: 9150730 [TBL] [Abstract][Full Text] [Related]
14. Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency. Fugmann SD; Müller S; Friedrich W; Bartram CR; Schwarz K Hum Genet; 1998 Dec; 103(6):730-1. PubMed ID: 9921912 [TBL] [Abstract][Full Text] [Related]
15. Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. Fanos JH; Davis J; Puck JM Am J Med Genet; 2001 Jan; 98(1):46-56. PubMed ID: 11426455 [TBL] [Abstract][Full Text] [Related]
16. Reduced memory B-cell populations in boys with B-cell dysfunction after bone marrow transplantation for X-linked severe combined immunodeficiency. Ting SS; Tangye SG; Wood J; Ffrench RA; Ziegler JB Br J Haematol; 2001 Mar; 112(4):1004-11. PubMed ID: 11298599 [TBL] [Abstract][Full Text] [Related]
17. Molecular and genetic basis of X-linked immunodeficiency disorders. Puck JM J Clin Immunol; 1994 Mar; 14(2):81-9. PubMed ID: 8195317 [TBL] [Abstract][Full Text] [Related]
18. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. Puck JM; Pepper AE; Bédard PM; Laframboise R J Clin Invest; 1995 Feb; 95(2):895-9. PubMed ID: 7860773 [TBL] [Abstract][Full Text] [Related]
19. A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies. Wengler GS; Parolini O; Fiorini M; Mella P; Smith H; Ugazio AG; Notarangelo LD Life Sci; 1997; 61(14):1405-11. PubMed ID: 9335230 [TBL] [Abstract][Full Text] [Related]
20. Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis. Lester T; de Alwis M; Clark PA; Jones AM; Katz F; Levinsky RJ; Kinnon C J Med Genet; 1994 Sep; 31(9):717-20. PubMed ID: 7815443 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]