Luk HM - Search Results

1

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

Edwards JJ, Martinelli S, Pannone L, Lo IF, Shi L, Edelmann L, Tartaglia M, Luk HM, Gelb BD. Edwards JJ, et al. Among authors: luk hm. Am J Med Genet A. 2014 Sep;164A(9):2351-5. doi: 10.1002/ajmg.a.36620. Epub 2014 May 28. Am J Med Genet A. 2014. PMID: 24891296 Free PMC article.

2

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.

Chong WW, Lo IF, Lam ST, Wang CC, Luk HM, Leung TY, Choy KW. Chong WW, et al. Among authors: luk hm. Mol Cytogenet. 2014 May 23;7:34. doi: 10.1186/1755-8166-7-34. eCollection 2014. Mol Cytogenet. 2014. PMID: 24926319 Free PMC article.

3

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.

Luk HM, Ivan Lo FM, Sano S, Matsubara K, Nakamura A, Ogata T, Kagami M. Luk HM, et al. Am J Med Genet A. 2016 Jul;170(7):1938-41. doi: 10.1002/ajmg.a.37679. Epub 2016 May 6. Am J Med Genet A. 2016. PMID: 27150791 Free PMC article. No abstract available.

4

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. Among authors: luk hm. 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.

5

Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review.

Cheng SSW, Lo IF, Luk HM. Cheng SSW, et al. Among authors: luk hm. Clin Dysmorphol. 2018 Jul;27(3):84-87. doi: 10.1097/MCD.0000000000000225. Clin Dysmorphol. 2018. PMID: 29782338 Review. No abstract available.

6

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

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

7

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. Burkardt DD, et al. Among authors: luk hm. Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400068

8

Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis.

Lin SM, Luk HM, Lo IFM, Tam WK, Chan KYK, Tse HY, Leung WC, Tang MHY, Kan ASY. Lin SM, et al. Among authors: luk hm. Clin Case Rep. 2020 May 19;8(8):1369-1375. doi: 10.1002/ccr3.2802. eCollection 2020 Aug. Clin Case Rep. 2020. PMID: 32884756 Free PMC article.

9

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. Among authors: luk hm. 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

10

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.

Yu KP, Luk HM, Fung JLF, Chung BH, Lo IF. Yu KP, et al. Among authors: luk hm. Eur J Med Genet. 2021 Jan;64(1):104107. doi: 10.1016/j.ejmg.2020.104107. Epub 2020 Nov 23. Eur J Med Genet. 2021. PMID: 33242595

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