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Items: 1 to 20 of 98

1.

Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report.

Li M, Chen W, Sun X, Wang Z, Zou X, Wei H, Wang Z, Chen W.

BMC Med Genet. 2019 Sep 12;20(1):157. doi: 10.1186/s12881-019-0880-1.

2.

X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene.

Maekawa K, Yamada M, Okura Y, Sato Y, Yamada Y, Kawamura N, Ariga T.

Blood Cells Mol Dis. 2010 Apr 15;44(4):300-4. doi: 10.1016/j.bcmd.2010.01.004. Epub 2010 Feb 1.

PMID:
20122858
3.

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Carrillo-Tapia E, García-García E, Herrera-González NE, Yamazaki-Nakashimada MA, Staines-Boone AT, Segura-Mendez NH, Scheffler-Mendoza SC, O Farrill-Romanillos P, Gonzalez-Serrano ME, Rodriguez-Alba JC, Santos-Argumedo L, Berron-Ruiz L, Sanchez-Flores A, López-Herrera G.

Expert Rev Clin Immunol. 2018 Jan;14(1):83-93. doi: 10.1080/1744666X.2018.1413349. Epub 2017 Dec 11.

PMID:
29202590
4.

X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan.

Zaidi SK, Qureshi S, Qamar FN.

J Pak Med Assoc. 2017 Mar;67(3):471-473.

5.

Multiple colorectal neoplasms in X-linked agammaglobulinemia.

Brosens LA, Tytgat KM, Morsink FH, Sinke RJ, Ten Berge IJ, Giardiello FM, Offerhaus GJ, Keller JJ.

Clin Gastroenterol Hepatol. 2008 Jan;6(1):115-9. Epub 2007 Oct 29.

PMID:
17967562
6.

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.

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia.

Rawat A, Karuthedath Vellarikkal S, Verma A, Jayarajan R, Gupta A, Singh S, Chopra A, Kumar R, Scaria V, Sivasubbu S.

Version 2. F1000Res. 2016 Nov 14 [revised 2017 Jan 1];5:2667. doi: 10.12688/f1000research.9472.2. eCollection 2016.

8.

X-Linked Agammaglobulinemia.

Smith CIE, Berglöf A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Apr 5 [updated 2016 Aug 4].

9.

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
10.

Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia.

Boushaki S, Tahiat A, Meddour Y, Chan KW, Chaib S, Benhalla N, Smati L, Bensenouci A, Lau YL, Magdinier F, Djidjik R.

Clin Immunol. 2015 Dec;161(2):286-90. doi: 10.1016/j.clim.2015.09.011. Epub 2015 Sep 24.

PMID:
26387629
11.

De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma.

Lin MT, Chien YH, Shyur SD, Huang LH, Chiang YC, Wen DC, Liang PH, Yang HC.

Ann Allergy Asthma Immunol. 2006 May;96(5):744-8.

PMID:
16729790
12.

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

Chen XF, Wang WF, Zhang YD, Zhao W, Wu J, Chen TX.

Medicine (Baltimore). 2016 Aug;95(32):e4544. doi: 10.1097/MD.0000000000004544.

13.

Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia.

Nonoyama S, Tsukada S, Yamadori T, Miyawaki T, Jin YZ, Watanabe C, Morio T, Yata J, Ochs HD.

J Immunol. 1998 Oct 15;161(8):3925-9.

14.

Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia.

Tan Q, Ren FL, Wang H.

Ann Dermatol. 2017 Aug;29(4):476-478. doi: 10.5021/ad.2017.29.4.476. Epub 2017 Jun 21.

15.

Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.

Wang Y, Kanegane H, Sanal O, Ersoy F, Tezcan I, Futatani T, Tsukada S, Miyawaki T.

Hum Mutat. 2001 Oct;18(4):356.

PMID:
11668622
16.

Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency.

Mirsafian H, Ripen AM, Leong WM, Chear CT, Bin Mohamad S, Merican AF.

Sci Rep. 2017 Jul 28;7(1):6836. doi: 10.1038/s41598-017-06342-5.

17.

A Novel BTK Gene Mutation in a Child With Atypical X-Linked Agammaglobulinemia and Recurrent Hemophagocytosis: A Case Report.

Han SP, Lin YF, Weng HY, Tsai SF, Fu LS.

Front Immunol. 2019 Aug 20;10:1953. doi: 10.3389/fimmu.2019.01953. eCollection 2019.

18.

Mutations in btk in patients with presumed X-linked agammaglobulinemia.

Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J.

Am J Hum Genet. 1998 May;62(5):1034-43.

19.

[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].

Kong X, Mo G, Liu N, Tian P, Chen M.

Zhonghua Yi Xue Za Zhi. 2014 May 13;94(18):1405-8. Chinese.

PMID:
25142992
20.

Sustained correction of B-cell development and function in a murine model of X-linked agammaglobulinemia (XLA) using retroviral-mediated gene transfer.

Yu PW, Tabuchi RS, Kato RM, Astrakhan A, Humblet-Baron S, Kipp K, Chae K, Ellmeier W, Witte ON, Rawlings DJ.

Blood. 2004 Sep 1;104(5):1281-90. Epub 2004 May 13.

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