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Items: 1 to 20 of 162

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.

3.

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, et al.

Immunodeficiency. 1995;5(3):187-92.

PMID:
7749438
4.

Carrier identification in X-linked immunodeficiency diseases.

Li SL, Ting SS, Lindeman R, Ffrench R, Ziegler JB.

J Paediatr Child Health. 1998 Jun;34(3):273-9.

PMID:
9633977
5.

A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.

Kanai N, Yanai F, Hirose S, Nibu K, Izuhara K, Tani T, Kubota T, Mitsudome A.

Hum Genet. 1999 Jan;104(1):36-42. Erratum in: Hum Genet 1999 Feb;104(2):196.

PMID:
10071190
6.
7.

A single nucleotide insertion in the canine interleukin-2 receptor gamma chain results in X-linked severe combined immunodeficiency disease.

Somberg RL, Pullen RP, Casal ML, Patterson DF, Felsburg PJ, Henthorn PS.

Vet Immunol Immunopathol. 1995 Aug;47(3-4):203-13.

PMID:
8571541
8.

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.

Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ.

Cell. 1993 Apr 9;73(1):147-57.

PMID:
8462096
10.

Genesis of progressive T-cell deficiency owing to a single missense mutation in the common gamma chain gene.

Goldman AS, Palkowetz KH, Rudloff HE, Dallas DV, Schmalstieg FC.

Scand J Immunol. 2001 Dec;54(6):582-91.

11.
12.

Immune consequences of mutations in the human common gamma-chain gene.

Schmalstieg FC, Goldman AS.

Mol Genet Metab. 2002 Jul;76(3):163-71. Review.

PMID:
12126929
13.
14.

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

Puck JM, Deschênes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS.

Hum Mol Genet. 1993 Aug;2(8):1099-104.

PMID:
8401490
15.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
16.

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 15;150(2):700-4.

PMID:
8093460
17.

[Molecular genetics of X-linked primary immunodeficiencies: advances in diagnosis and prevention].

Carbonara A, Brusco A, Carbonara C.

Ann Ital Med Int. 1996 Jul-Sep;11(3):180-6. Review. Italian.

PMID:
8998263
18.

Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.

Notarangelo LD, Parolini O, Albertini A, Duse M, Mazzolari E, Plebani A, Camerino G, Ugazio AG.

Hum Genet. 1991 Dec;88(2):130-4.

PMID:
1757090
19.

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 1;23(1):62-8.

PMID:
7829103
20.

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