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Items: 1 to 20 of 212

1.

Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.

Kobayashi S, Iwata T, Saito M, Iwasaki R, Matsumoto H, Naritaka S, Kono Y, Hayashi Y.

Hum Genet. 1996 Apr;97(4):424-30.

PMID:
8834236
3.

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CI, Meindl A.

Pediatrics. 1998 Feb;101(2):276-84.

PMID:
9445504
4.

Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T.

Blood. 1996 Jul 15;88(2):561-73.

5.

X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group.

Moschese V, Orlandi P, Plebani A, Arvanitidis K, Fiorini M, Speletas M, Mella P, Ritis K, Sideras P, Finocchi A, Livadiotti S, Rossi P.

Mol Med. 2000 Feb;6(2):104-13.

7.

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

Conley ME, Fitch-Hilgenberg ME, Cleveland JL, Parolini O, Rohrer J.

Hum Mol Genet. 1994 Oct;3(10):1751-6.

PMID:
7849697
8.

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

Vorechovský I, Vihinen M, de Saint Basile G, Honsová S, Hammarström L, Müller S, Nilsson L, Fischer A, Smith CI.

Hum Mol Genet. 1995 Jan;4(1):51-8.

PMID:
7711734
9.

Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

Brooimans RA, van den Berg AJ, Rijkers GT, Sanders LA, van Amstel JK, Tilanus MG, Grubben MJ, Zegers BJ.

J Med Genet. 1997 Jun;34(6):484-8.

10.

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

Hagemann TL, Chen Y, Rosen FS, Kwan SP.

Hum Mol Genet. 1994 Oct;3(10):1743-9.

PMID:
7880320
11.

Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece.

Speletas M, Kanariou M, Kanakoudi-Tsakalidou F, Papadopoulou-Alataki E, Arvanitidis K, Pardali E, Constantopoulos A, Kartalis G, Vihinen M, Sideras P, Ritis K.

Scand J Immunol. 2001 Sep;54(3):321-7.

13.

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M.

FEBS Lett. 1994 Jun 13;346(2-3):165-70.

15.

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

Vorechovský I, Luo L, Hertz JM, Frøland SS, Klemola T, Fiorini M, Quinti I, Paganelli R, Ozsahin H, Hammarström L, Webster AD, Smith CI.

Hum Mutat. 1997;9(5):418-25.

PMID:
9143921
17.

Molecular analysis of Bruton's tyrosine kinase gene in Spain.

Rodríguez MC, Granados EL, Cerdán AF, Casariego GF.

Hum Mutat. 2001;18(1):84.

PMID:
11438999
18.

X-linked agammaglobulinaemia and the underlying genetics in two kindreds.

Pienaar S, Eley B, Beatty DW, Henderson HE.

J Paediatr Child Health. 2000 Oct;36(5):453-6.

PMID:
11036800
19.

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

Bradley LA, Sweatman AK, Lovering RC, Jones AM, Morgan G, Levinsky RJ, Kinnon C.

Hum Mol Genet. 1994 Jan;3(1):79-83.

PMID:
8162056
20.

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.

Tani SM, Wang Y, Kanegane H, Futatani T, Pinto J, Vilela MM, Miyawaki T.

Hum Mutat. 2002 Sep;20(3):235-6.

PMID:
12204007

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