202 related articles for article (PubMed ID: 7883965)
1. 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]
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]
3. 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]
4. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [Molecular genetics of X-linked primary immunodeficiencies: advances in diagnosis and prevention].
Carbonara A; Brusco A; Carbonara C
Ann Ital Med Int; 1996; 11(3):180-6. PubMed ID: 8998263
[TBL] [Abstract][Full Text] [Related]
7. Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency.
Deschênes SM; Puck JM; Dutra AS; Somberg RL; Felsburg PJ; Henthorn PS
Genomics; 1994 Sep; 23(1):62-8. PubMed ID: 7829103
[TBL] [Abstract][Full Text] [Related]
8. Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
Guo C; Van Damme B; Vanrenterghem Y; Devriendt K; Cassiman JJ; Marynen P
J Clin Invest; 1995 Apr; 95(4):1832-7. PubMed ID: 7706490
[TBL] [Abstract][Full Text] [Related]
9. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
Hertz JM; Juncker I; Persson U; Matthijs G; Schmidtke J; Petersen MB; Kjeldsen M; Gregersen N
Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
[TBL] [Abstract][Full Text] [Related]
10. Comparison of five retrovirus vectors containing the human IL-2 receptor gamma chain gene for their ability to restore T and B lymphocytes in the X-linked severe combined immunodeficiency mouse model.
Avilés Mendoza GJ; Seidel NE; Otsu M; Anderson SM; Simon-Stoos K; Herrera A; Hoogstraten-Miller S; Malech HL; Candotti F; Puck JM; Bodine DM
Mol Ther; 2001 Apr; 3(4):565-73. PubMed ID: 11319919
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease.
Greenland KJ; Beilin J; Castro J; Varghese PN; Zajac JD
J Neurol; 2004 Jan; 251(1):35-41. PubMed ID: 14999487
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG; Testa F; Filippini F; Trujillo M; Conte I; Lanzara C; Millán JM; De Bernardo C; Grammatico B; Mangino M; Torrente I; Carrozzo R; Simonelli F; Rinaldi E; Ventruto V; D'Urso M; Ayuso C; Ciccodicola A
Hum Mutat; 2001 Aug; 18(2):109-19. PubMed ID: 11462235
[TBL] [Abstract][Full Text] [Related]
15. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
[TBL] [Abstract][Full Text] [Related]
16. Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
Kaplan Y; Vargel I; Kansu T; Akin B; Rohmann E; Kamaci S; Uz E; Ozcelik T; Wollnik B; Akarsu NA
Br J Ophthalmol; 2008 Jan; 92(1):135-41. PubMed ID: 17962394
[TBL] [Abstract][Full Text] [Related]
17. Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.
Niemela JE; Puck JM; Fischer RE; Fleisher TA; Hsu AP
Clin Immunol; 2000 Apr; 95(1 Pt 1):33-8. PubMed ID: 10794430
[TBL] [Abstract][Full Text] [Related]
18. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.
Puck JM; Nussbaum RL; Conley ME
J Clin Invest; 1987 May; 79(5):1395-400. PubMed ID: 2883199
[TBL] [Abstract][Full Text] [Related]
19. Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.
Westberg J; Fredrikson GN; Truedsson L; Sjöholm AG; Uhlén M
Genomics; 1995 Sep; 29(1):1-8. PubMed ID: 8530058
[TBL] [Abstract][Full Text] [Related]
20. [Identification of mutations that were responsible for primary immunodeficiency diseases].
Tsuchiya S; Ohashi Y; Konno T
Rinsho Byori; 1996 Feb; 44(2):126-32. PubMed ID: 8851194
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
