Bernatowska-Matuszkiewicz E - Search Results

1

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

Becker-Catania SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, Bernatowska-Matuszkiewicz E, Chessa L, Lee EY, Gatti RA. Becker-Catania SG, et al. Among authors: bernatowska matuszkiewicz e. Mol Genet Metab. 2000 Jun;70(2):122-33. doi: 10.1006/mgme.2000.2998. Mol Genet Metab. 2000. PMID: 10873394

2

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

Telatar M, Wang Z, Udar N, Liang T, Bernatowska-Matuszkiewicz E, Lavin M, Shiloh Y, Concannon P, Good RA, Gatti RA. Telatar M, et al. Among authors: bernatowska matuszkiewicz e. Am J Hum Genet. 1996 Jul;59(1):40-4. Am J Hum Genet. 1996. PMID: 8659541 Free PMC article.

3

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA. Telatar M, et al. Among authors: bernatowska matuszkiewicz e. Am J Hum Genet. 1998 Jan;62(1):86-97. doi: 10.1086/301673. Am J Hum Genet. 1998. PMID: 9443866 Free PMC article.

4

Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

Jin H, Webster AD, Vihinen M, Sideras P, Vorechovsky I, Hammarstróm L, Bernatowska-Matuszkiewicz E, Smith CI, Bobrow M, Vetrie D. Jin H, et al. Among authors: bernatowska matuszkiewicz e. Hum Mol Genet. 1995 Apr;4(4):693-700. doi: 10.1093/hmg/4.4.693. Hum Mol Genet. 1995. PMID: 7633420

5

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.

Chrzanowska K, Stumm M, Bialecka M, Saar K, Bernatowska-Matuszkiewicz E, Michalkiewicz J, Barszcz S, Reis A, Wegner RD. Chrzanowska K, et al. Among authors: bernatowska matuszkiewicz e. Clin Genet. 1997 May;51(5):309-13. doi: 10.1111/j.1399-0004.1997.tb02479.x. Clin Genet. 1997. PMID: 9212178

6

Absence of xid mutation in X-linked agammaglobulinaemia.

Vorechovsky I, Zhou JN, Hammarström L, Smith CI, Thomas JD, Paul WE, Notarangelo LD, Bernatowska-Matuszkiewicz E. Vorechovsky I, et al. Among authors: bernatowska matuszkiewicz e. Lancet. 1993 Aug 28;342(8870):552. doi: 10.1016/0140-6736(93)91676-d. Lancet. 1993. PMID: 8102684 No abstract available.

7

Clinical efficacy of intravenous immunoglobulin in patients with severe inflammatory chest disease and IgG3 subclass deficiency.

Bernatowska-Matuszkiewicz E, Pac M, Skopcynska H, Pum M, Eibl MM. Bernatowska-Matuszkiewicz E, et al. Clin Exp Immunol. 1991 Aug;85(2):193-7. doi: 10.1111/j.1365-2249.1991.tb05703.x. Clin Exp Immunol. 1991. PMID: 1863998 Free PMC article. Clinical Trial.

8

IgG subclasses and antibody response to pneumococcal capsular polysaccharides in children with severe sinopulmonary infections and asthma.

Bernatowska-Matuszkiewicz E, Pac M, Pum M, Liszka K, Leibl H, Eibl MM. Bernatowska-Matuszkiewicz E, et al. Immunol Invest. 1991 Apr;20(2):173-85. doi: 10.3109/08820139109050785. Immunol Invest. 1991. PMID: 1864636

9

Clinical manifestations of various phagocytic defects.

Bernatowska-Matuszkiewicz E, Smogorzewskan M, Rump Z, Skopczyńska H, Madaliński K. Bernatowska-Matuszkiewicz E, et al. Acta Paediatr Hung. 1988-1989;29(1-2):209-11. Acta Paediatr Hung. 1988. PMID: 3255405 No abstract available.

10

The European Society for Immunodeficiencies (ESID) registry 2014.

Grimbacher B; ESID Registry Working Party. Grimbacher B, et al. Clin Exp Immunol. 2014 Dec;178 Suppl 1(Suppl 1):18-20. doi: 10.1111/cei.12496. Clin Exp Immunol. 2014. PMID: 25546747 Free PMC article. No abstract available.

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