Meyer S - Search Results

1

Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.

Goldgraben MA, Fewings E, Larionov A, Scarth J, Redman J, Telford N, Arkwright PD, Bonney D, Wilks D, Kulkarni S, Taylor AMR, Tischkowitz MD, Meyer S. Goldgraben MA, et al. Among authors: meyer s. Pediatr Blood Cancer. 2020 Sep;67(9):e28354. doi: 10.1002/pbc.28354. Epub 2020 May 8. Pediatr Blood Cancer. 2020. PMID: 32383811 No abstract available.

2

Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.

Meyer S, Kingston H, Taylor AM, Byrd PJ, Last JI, Brennan BM, Trueman S, Kelsey A, Taylor GM, Eden OB. Meyer S, et al. Cancer Genet Cytogenet. 2004 Oct 15;154(2):169-74. doi: 10.1016/j.cancergencyto.2004.02.022. Cancer Genet Cytogenet. 2004. PMID: 15474156

3

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.

Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG. Meyer S, et al. J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20. J Med Genet. 2014. PMID: 24259538 Review.

4

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.

Schneider M, Chandler K, Tischkowitz M, Meyer S. Schneider M, et al. Among authors: meyer s. Clin Genet. 2015 Jul;88(1):13-24. doi: 10.1111/cge.12517. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307146 Review.

5

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging.

Stivaros SM, Alston R, Wright NB, Chandler K, Bonney D, Wynn RF, Will AM, Punekar M, Loughran S, Kilday JP, Schindler D, Patel L, Meyer S. Stivaros SM, et al. Among authors: meyer s. Br J Radiol. 2015;88(1056):20150088. doi: 10.1259/bjr.20150088. Epub 2015 Sep 15. Br J Radiol. 2015. PMID: 26369989 Free PMC article.

6

Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

Popp I, Punekar M, Telford N, Stivaros S, Chandler K, Minnis M, Castleton A, Higham C, Hopewell L, Gareth Evans D, Raams A, Theil AF, Meyer S, Schindler D. Popp I, et al. Among authors: meyer s. BMC Med Genet. 2018 Jan 11;19(1):7. doi: 10.1186/s12881-018-0520-1. BMC Med Genet. 2018. PMID: 29325523 Free PMC article.

7

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.

Sathyanarayana V, Lee B, Wright NB, Santos R, Bonney D, Wynn R, Patel L, Chandler K, Cheesman E, Schindler D, Webb NJA, Meyer S. Sathyanarayana V, et al. Among authors: meyer s. Pediatr Nephrol. 2018 Sep;33(9):1547-1551. doi: 10.1007/s00467-018-3952-0. Epub 2018 Apr 12. Pediatr Nephrol. 2018. PMID: 29651604 Free PMC article.

8

Chromosome instability syndromes.

Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS. Taylor AMR, et al. Among authors: meyer s. Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. Nat Rev Dis Primers. 2019. PMID: 31537806 Free PMC article. Review.

9

High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.

Ellingford JM, Telford N, Urquhart J, Will AM, Bonney D, Adams B, Dixon R, Kerr B, Black GC, Wynn RF, Meyer S. Ellingford JM, et al. Among authors: meyer s. Cancer Genet. 2021 Aug;256-257:77-80. doi: 10.1016/j.cancergen.2021.04.002. Epub 2021 Apr 23. Cancer Genet. 2021. PMID: 33957466

10

Spectrum and significance of variants and mutations in the Fanconi anaemia group G gene in children with sporadic acute myeloid leukaemia.

Meyer S, Barber LM, White DJ, Will AM, Birch JM, Kohler JA, Ersfeld K, Blom E, Joenje H, Eden TO, Malcolm Taylor G. Meyer S, et al. Br J Haematol. 2006 May;133(3):284-92. doi: 10.1111/j.1365-2141.2006.05985.x. Br J Haematol. 2006. PMID: 16643430 Free article.

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