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Items: 7

1.

Exploratory biomarker analysis for treatment response in KRAS wild type metastatic colorectal cancer patients who received cetuximab plus irinotecan.

Kim ST, Ahn TJ, Lee E, Do IG, Lee SJ, Park SH, Park JO, Park YS, Lim HY, Kang WK, Kim SH, Lee J, Kim HC.

BMC Cancer. 2015 Oct 20;15:747. doi: 10.1186/s12885-015-1759-y.

2.

Genome instability in blood cells of a BRCA1+ breast cancer family.

Xiao F, Kim YC, Snyder C, Wen H, Chen PX, Luo J, Becirovic D, Downs B, Cowan KH, Lynch H, Wang SM.

BMC Cancer. 2014 May 19;14:342. doi: 10.1186/1471-2407-14-342.

3.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS.

Mol Genet Metab. 2014 Mar;111(3):309-13. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19.

4.

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Albash B, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.

Eur J Pediatr. 2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Epub 2013 Dec 11. Review.

PMID:
24326380
5.

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.

Fahiminiya S, Almuriekhi M, Nawaz Z, Staffa A, Lepage P, Ali R, Hashim L, Schwartzentruber J, Abu Khadija K, Zaineddin S, Gamal H, Majewski J, Ben-Omran T.

Clin Genet. 2014 Aug;86(2):134-41. doi: 10.1111/cge.12280. Epub 2013 Oct 13.

PMID:
24102521
6.

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Wong LJ, Zhang VW.

Genet Med. 2013 Feb;15(2):106-14. doi: 10.1038/gim.2012.104. Epub 2012 Aug 16.

PMID:
22899091
7.

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17.

PMID:
21646031

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