Banka S - Search Results

1

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES. Oftedal BE, et al. Among authors: banka s. Immunity. 2015 Jun 16;42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021. Immunity. 2015. PMID: 26084028 Free article.

2

Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia.

Banka S, Roberts R, Plews D, Newman WG. Banka S, et al. J Pediatr Hematol Oncol. 2010 May;32(4):319-22. doi: 10.1097/MPH.0b013e3181d74719. J Pediatr Hematol Oncol. 2010. PMID: 20404749

3

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S. Banka S, et al. Eur J Hum Genet. 2011 Jan;19(1):18-22. doi: 10.1038/ejhg.2010.136. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717171 Free PMC article.

4

Mutations in the G6PC3 gene cause Dursun syndrome.

Banka S, Newman WG, Ozgül RK, Dursun A. Banka S, et al. Am J Med Genet A. 2010 Oct;152A(10):2609-11. doi: 10.1002/ajmg.a.33615. Am J Med Genet A. 2010. PMID: 20799326

5

Variability of bone marrow morphology in G6PC3 mutations: is there a genotype-phenotype correlation or age-dependent relationship?

Banka S, Wynn R, Newman WG. Banka S, et al. Am J Hematol. 2011 Feb;86(2):235-7. doi: 10.1002/ajh.21930. Am J Hematol. 2011. PMID: 21264919 Free article. No abstract available.

6

Pernicious anemia - genetic insights.

Banka S, Ryan K, Thomson W, Newman WG. Banka S, et al. Autoimmun Rev. 2011 Jun;10(8):455-9. doi: 10.1016/j.autrev.2011.01.009. Epub 2011 Feb 4. Autoimmun Rev. 2011. PMID: 21296191 Review.

7

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.

8

G6PC3 mutations cause non-syndromic severe congenital neutropenia.

Banka S, Wynn R, Byers H, Arkwright PD, Newman WG. Banka S, et al. Mol Genet Metab. 2013 Feb;108(2):138-41. doi: 10.1016/j.ymgme.2012.12.001. Epub 2012 Dec 21. Mol Genet Metab. 2013. PMID: 23298686

9

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Banka S, Newman WG. Banka S, et al. Orphanet J Rare Dis. 2013 Jun 13;8:84. doi: 10.1186/1750-1172-8-84. Orphanet J Rare Dis. 2013. PMID: 23758768 Free PMC article. Review.

10

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

Daly SB, Shah H, O'Sullivan J, Anderson B, Bhaskar S, Williams S, Al-Sheqaih N, Mueed Bidchol A, Banka S, Newman WG, Girisha KM. Daly SB, et al. Among authors: banka s. Mol Syndromol. 2014 Aug;5(5):218-28. doi: 10.1159/000365057. Epub 2014 Jul 8. Mol Syndromol. 2014. PMID: 25337069 Free PMC article.

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