Lim DHK - Search Results

1

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.

Smith PS, Whitworth J, West H, Cook J, Gardiner C, Lim DHK, Morrison PJ, Hislop RG, Murray E; NIHR Rare Disease BioResource; Tischkowitz M, Warren AY, Woodward ER, Maher ER. Smith PS, et al. Among authors: lim dhk. Genes Chromosomes Cancer. 2020 Jun;59(6):333-347. doi: 10.1002/gcc.22833. Epub 2020 Feb 5. Genes Chromosomes Cancer. 2020. PMID: 31943436 Free PMC article. Review.

2

Human imprinting syndromes.

Lim DH, Maher ER. Lim DH, et al. Epigenomics. 2009 Dec;1(2):347-69. doi: 10.2217/epi.09.24. Epigenomics. 2009. PMID: 22122706 Review.

3

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, Dixit A, Evans DG, Hanson H, Lalloo F, Oliveira P, Vialard L, Wallis Y, Maher ER, Woodward ER. Forde C, et al. Among authors: lim dhk. Eur Urol Oncol. 2020 Dec;3(6):764-772. doi: 10.1016/j.euo.2019.11.002. Epub 2019 Dec 9. Eur Urol Oncol. 2020. PMID: 31831373 Free article.

4

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.

Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER. Innes J, et al. J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16. J Med Genet. 2018. PMID: 28918392

5

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER. Lim DH, et al. Hum Mutat. 2010 Jan;31(1):E1043-51. doi: 10.1002/humu.21130. Hum Mutat. 2010. PMID: 19802896

6

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER. Nahorski MS, et al. J Med Genet. 2010 Jun;47(6):385-90. doi: 10.1136/jmg.2009.073304. J Med Genet. 2010. PMID: 20522427

7

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER. Nahorski MS, et al. Hum Mutat. 2011 Aug;32(8):921-9. doi: 10.1002/humu.21519. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21538689

8

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology.

Tee L, Lim DH, Dias RP, Baudement MO, Slater AA, Kirby G, Hancocks T, Stewart H, Hardy C, Macdonald F, Maher ER. Tee L, et al. Clin Epigenetics. 2013 Dec 10;5(1):23. doi: 10.1186/1868-7083-5-23. Clin Epigenetics. 2013. PMID: 24325814 Free PMC article.

9

Epigenotype-phenotype correlations in Silver-Russell syndrome.

Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM. Wakeling EL, et al. J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685669 Free PMC article.

10

Genomic imprinting syndromes and cancer.

Lim DH, Maher ER. Lim DH, et al. Adv Genet. 2010;70:145-75. doi: 10.1016/B978-0-12-380866-0.60006-X. Adv Genet. 2010. PMID: 20920748 Review.

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