Lo IF - Search Results

1

Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years.

Ho SK, Luk HM, Ng SY, Yu KP, Cheng SS, Ng PP, Mok MT, Hau EW, Lo IF. Ho SK, et al. Among authors: lo if. Eur J Med Genet. 2022 Apr;65(4):104474. doi: 10.1016/j.ejmg.2022.104474. Epub 2022 Feb 28. Eur J Med Genet. 2022. PMID: 35240321

2

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

Tong TM, Hau EW, Lo IF, Chan DH, Lam ST. Tong TM, et al. Among authors: lo if. Chin Med J (Engl). 2005 Sep 20;118(18):1499-506. Chin Med J (Engl). 2005. PMID: 16232326

3

Prader--Willi syndrome: 16-year experience in Hong Kong.

Lo IF, Luk HM, Tong TM, Lai KK, Chan DH, Lam AC, Chan DK, Hau EW, Fung CO, Lam ST. Lo IF, et al. J Genet Genomics. 2012 Apr 20;39(4):191-4. doi: 10.1016/j.jgg.2012.02.005. J Genet Genomics. 2012. PMID: 22685788 No abstract available.

4

A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.

Chung BH, Luk HM, Lo IF, Lam ST, Li RH. Chung BH, et al. Among authors: lo if. Am J Med Genet A. 2013 Apr;161A(4):918-20. doi: 10.1002/ajmg.a.35793. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495189 No abstract available.

5

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. Among authors: lo if. Hong Kong Med J. 2013 Apr;19(2):182-5. Hong Kong Med J. 2013. PMID: 23535681 Free article.

6

A young woman with mucocutaneous pigmentation and intestinal polyps.

Luk HM, Lo IF, Yu KM, Tong TM, Lam ST. Luk HM, et al. Among authors: lo if. 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.

7

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. Among authors: lo if. Hong Kong Med J. 2013 Dec;19(6):556-9. doi: 10.12809/hkmj133739. Hong Kong Med J. 2013. PMID: 24310666 Free article.

8

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. Among authors: lo if. 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

9

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: lo if. 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

10

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY. Tsoi H, et al. Among authors: lo if. J Med Genet. 2014 Sep;51(9):590-5. doi: 10.1136/jmedgenet-2014-102333. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062847 Free PMC article.

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