Meindl A - Search Results

1

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, Morio T, Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD. Albert MH, et al. Among authors: meindl a. Blood. 2010 Apr 22;115(16):3231-8. doi: 10.1182/blood-2009-09-239087. Epub 2010 Feb 19. Blood. 2010. PMID: 20173115 Free article.

2

The genotype of the original Wiskott phenotype.

Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH. Binder V, et al. Among authors: meindl a. N Engl J Med. 2006 Oct 26;355(17):1790-3. doi: 10.1056/NEJMoa062520. N Engl J Med. 2006. PMID: 17065640 Free article.

3

Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients.

Jansson A, Renner ED, Ramser J, Mayer A, Haban M, Meindl A, Grote V, Diebold J, Jansson V, Schneider K, Belohradsky BH. Jansson A, et al. Among authors: meindl a. Rheumatology (Oxford). 2007 Jan;46(1):154-60. doi: 10.1093/rheumatology/kel190. Epub 2006 Jun 17. Rheumatology (Oxford). 2007. PMID: 16782988

4

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.

Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A. Golla A, et al. Among authors: meindl a. Eur J Hum Genet. 2002 Mar;10(3):217-21. doi: 10.1038/sj.ejhg.5200789. Eur J Hum Genet. 2002. PMID: 11973628

5

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

Schindelhauer D, Weiss M, Hellebrand H, Golla A, Hergersberg M, Seger R, Belohradsky BH, Meindl A. Schindelhauer D, et al. Among authors: meindl a. Hum Genet. 1996 Jul;98(1):68-76. doi: 10.1007/s004390050162. Hum Genet. 1996. PMID: 8682510

6

Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases.

Horn PC, Belohradsky BH, Urban C, Weber-Mzell D, Meindl A, Schuster V. Horn PC, et al. Among authors: meindl a. J Allergy Clin Immunol. 2011 Feb;127(2):544-6. doi: 10.1016/j.jaci.2010.11.040. J Allergy Clin Immunol. 2011. PMID: 21281876 No abstract available.

7

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. Holinski-Feder E, et al. Among authors: meindl a. Pediatrics. 1998 Feb;101(2):276-84. doi: 10.1542/peds.101.2.276. Pediatrics. 1998. PMID: 9445504

8

Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).

Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A. Brandau O, et al. Among authors: meindl a. Hum Mol Genet. 1999 Dec;8(13):2407-13. doi: 10.1093/hmg/8.13.2407. Hum Mol Genet. 1999. PMID: 10556288

9

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. Schmucker B, et al. Among authors: meindl a. Immunodeficiency. 1995;5(3):187-92. Immunodeficiency. 1995. PMID: 7749438

10

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

Vihinen M, Belohradsky BH, Haire RN, Holinski-Feder E, Kwan SP, Lappalainen I, Lehväslaiho H, Lester T, Meindl A, Ochs HD, Ollila J, Vorechovsky I, Weiss M, Smith CI. Vihinen M, et al. Among authors: meindl a. Nucleic Acids Res. 1997 Jan 1;25(1):166-71. doi: 10.1093/nar/25.1.166. Nucleic Acids Res. 1997. PMID: 9016530 Free PMC article.

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