Lo IFM - Search Results

1

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Belaramani KM, Chan TCH, Hau EWL, Yeung MCW, Kwok AMK, Lo IFM, Law THF, Wu H, Wong SSN, Lam SW, Ha GHY, Lau TPY, Wong TK, Or VWC, Wong RMS, Ming WL, Chow JCK, Yau EKC, Fu A, Chong JSC, Yau HC, Poon GWK, Ng KL, Chan KT, Lam YY, Hui J, Mak CM, Fung CW. Belaramani KM, et al. Among authors: lo ifm. Int J Neonatal Screen. 2024 Mar 11;10(1):23. doi: 10.3390/ijns10010023. Int J Neonatal Screen. 2024. PMID: 38535127 Free PMC article.

2

Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome.

Lo IF, Wong RM, Lam FW, Tong TM, Lam ST. Lo IF, et al. Chin Med J (Engl). 2001 May;114(5):473-6. Chin Med J (Engl). 2001. PMID: 11780406

3

HKG: an open genetic variant database of 205 Hong Kong cantonese exomes.

Ou M, Leung HC, Leung AW, Luk HM, Yan B, Liu CM, Tong TM, Mok MT, Ko WM, Law WC, Lam TW, Lo IF, Luo R. Ou M, et al. NAR Genom Bioinform. 2022 Feb 8;4(1):lqac005. doi: 10.1093/nargab/lqac005. eCollection 2022 Mar. NAR Genom Bioinform. 2022. PMID: 35156024 Free PMC article.

4

A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy.

Poon JYY, Mok MTS, Ho SKL, Cheng SSW, Lo IFM, Luk HM. Poon JYY, et al. Among authors: lo ifm. Clin Dysmorphol. 2024 Jul 1;33(3):128-133. doi: 10.1097/MCD.0000000000000498. Epub 2024 Apr 17. Clin Dysmorphol. 2024. PMID: 38818821 No abstract available.

5

Extending the phenotype of Shashi-Pena syndrome: a case report and review of literature.

Ho SKL, Cheng SSW, Cheng THT, Leung LT, Lam EKY, Mok MTS, Lo IFM, Luk HM. Ho SKL, et al. Among authors: lo ifm. Clin Dysmorphol. 2023 Jul 1;32(3):139-146. doi: 10.1097/MCD.0000000000000462. Epub 2023 May 12. Clin Dysmorphol. 2023. PMID: 37195319 Review. No abstract available.

6

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.

Ho S, Tsang MH, Fung JL, Huang H, Chow CB, Cheng SS, Luk HM, Chung BH, Lo IF. Ho S, et al. Am J Med Genet A. 2022 Jan;188(1):130-137. doi: 10.1002/ajmg.a.62504. Epub 2021 Sep 24. Am J Med Genet A. 2022. PMID: 34558805

7

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Wong CW, Or PMY, Wang Y, Li L, Li J, Yan M, Cao Y, Luk HM, Tong TMF, Leslie NR, Lo IF, Choy KW, Chan AML. Wong CW, et al. Autism Res. 2018 Aug;11(8):1098-1109. doi: 10.1002/aur.1950. Epub 2018 Apr 2. Autism Res. 2018. PMID: 29608813 Free PMC article.

8

Myhre syndrome: a report of six Chinese patients and literature review.

Yu KP, Luk HM, Chung BH, Lo IF. Yu KP, et al. Clin Dysmorphol. 2019 Jul;28(3):145-150. doi: 10.1097/MCD.0000000000000271. Clin Dysmorphol. 2019. PMID: 30921096 Review. No abstract available.

9

A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.

Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH. Cheng SW, et al. Eur J Med Genet. 2018 Apr;61(4):219-224. doi: 10.1016/j.ejmg.2017.11.018. Epub 2017 Nov 27. Eur J Med Genet. 2018. PMID: 29191498 Review.

10

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.

Seto MT, Bertoli-Avella AM, Cheung KW, Chan KY, Yeung KS, Fung JL, Beetz C, Bauer P, Luk HM, Lo IF, Lee CP, Chung BH, Kan AS. Seto MT, et al. Am J Med Genet A. 2021 Feb;185(2):384-389. doi: 10.1002/ajmg.a.61964. Epub 2020 Nov 9. Am J Med Genet A. 2021. PMID: 33166031

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