Luk HM - Search Results

1

Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series.

Leung WY, Luk HM, Vardhanabhuti V, Gao Y, Hui KF, Lau WY, Young TPH, Li JTC, Fung ELW, Chiu ATG, Lo IFM, Chung BHY, Cheung YF, Chan SHS. Leung WY, et al. Among authors: luk hm. Hong Kong Med J. 2021 Dec;27(6):444-449. doi: 10.12809/hkmj209001. Hong Kong Med J. 2021. PMID: 34949732 Free article. No abstract available.

2

Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.

Luk HM, Lo IFM, Lai CWS, Yeung WL, Lam STS. Luk HM, et al. Clin Dysmorphol. 2012 Apr;21(2):64-68. doi: 10.1097/MCD.0b013e328350509b. Clin Dysmorphol. 2012. PMID: 22258436 Review.

3

Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.

Luk HM, Lo IF, Lai CW, Ma LC, Tong TM, Chan DH, Lam ST. Luk HM, et al. Hong Kong Med J. 2013 Apr;19(2):182-5. Hong Kong Med J. 2013. PMID: 23535681 Free article.

4

A young woman with mucocutaneous pigmentation and intestinal polyps.

Luk HM, Lo IF, Yu KM, Tong TM, Lam ST. Luk HM, et al. Hong Kong Med J. 2013 Jun;19(3):276.e3-4. doi: 10.12809/hkmj133753. Hong Kong Med J. 2013. PMID: 23732439 Free article. No abstract available.

5

Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.

Luk HM, Lo IF, Fu KH, Lui CH, Tong TM, Chan DH, Lam ST. Luk HM, et al. Hong Kong Med J. 2013 Dec;19(6):556-9. doi: 10.12809/hkmj133739. Hong Kong Med J. 2013. PMID: 24310666 Free article.

6

A prenatal case of split-hand malformation associated with 17p13.3 triplication - a dilemma in genetic counseling.

Luk HM, Wong VC, Lo IF, Chan KY, Lau ET, Kan AS, Tang MH, Tang WF, She WM, Chu YW, Sin WK, Chung BH. Luk HM, et al. Eur J Med Genet. 2014 Feb;57(2-3):81-4. doi: 10.1016/j.ejmg.2013.12.005. Epub 2013 Dec 28. Eur J Med Genet. 2014. PMID: 24380768

7

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.

Yeung KS, Chee YY, Luk HM, Kan AS, Tang MH, Lau ET, Shuen AY, Lo IF, Chan KY, Chung BH. Yeung KS, et al. Among authors: luk hm. Am J Med Genet A. 2014 Oct;164A(10):2521-8. doi: 10.1002/ajmg.a.36670. Epub 2014 Jul 16. Am J Med Genet A. 2014. PMID: 25044945

8

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.

Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Gu S, et al. Among authors: luk hm. Hum Mutat. 2016 Feb;37(2):160-4. doi: 10.1002/humu.22929. Epub 2015 Dec 2. Hum Mutat. 2016. PMID: 26549411 Free PMC article.

9

The nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia.

Tong SY, Luk HM, Tong TM, Lo IF. Tong SY, et al. Among authors: luk hm. Hong Kong Med J. 2015 Dec;21(6):573.e3-5. doi: 10.12809/hkmj154728. Hong Kong Med J. 2015. PMID: 26634378 Free article. No abstract available.

10

NSD1 mutations generate a genome-wide DNA methylation signature.

Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, Reardon W, Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R. Choufani S, et al. Among authors: luk hm. Nat Commun. 2015 Dec 22;6:10207. doi: 10.1038/ncomms10207. Nat Commun. 2015. PMID: 26690673 Free PMC article.

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