Publications by authors named "Ivan F M Lo"

36Publications

Rubinstein-Taybi syndrome in Chinese population with four novel mutations.

Am J Med Genet A 2020 Oct 16. Epub 2020 Oct 16.

Clinical Genetic Service, Department of Health, Kowloon, Hong Kong.

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http://dx.doi.org/10.1002/ajmg.a.61922DOI Listing
October 2020

A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.

Am J Med Genet A 2020 06 21;182(6):1329-1335. Epub 2020 Mar 21.

LKS Faculty of Medicine, Department of Pediatrics & Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, China.

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http://dx.doi.org/10.1002/ajmg.a.61567DOI Listing
June 2020

Mowat-Wilson syndrome in a Chinese population: A case series.

Am J Med Genet A 2020 06 20;182(6):1336-1341. Epub 2020 Mar 20.

Clinical Genetic Service, Department of Health, HKSAR, Hong Kong.

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http://dx.doi.org/10.1002/ajmg.a.61557DOI Listing
June 2020

CHARGE syndrome in nine patients from China.

Am J Med Genet A 2020 01 15;182(1):15-19. Epub 2019 Nov 15.

Department of Health, Clinical Genetic Service, Kowloon, Hong Kong.

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http://dx.doi.org/10.1002/ajmg.a.61398DOI Listing
January 2020

Coffin-Lowry syndrome in Chinese.

Am J Med Genet A 2019 10 9;179(10):2043-2048. Epub 2019 Aug 9.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.

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http://dx.doi.org/10.1002/ajmg.a.61323DOI Listing
October 2019

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.

Am J Med Genet C Semin Med Genet 2019 06 23;181(2):196-207. Epub 2019 Mar 23.

Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, HKSAR.

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http://dx.doi.org/10.1002/ajmg.c.31697DOI Listing
June 2019

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Am J Med Genet C Semin Med Genet 2019 06 21;181(2):208-217. Epub 2019 Mar 21.

Department of Health, Clinical Genetic Service, HKSAR, Hong Kong.

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http://dx.doi.org/10.1002/ajmg.c.31692DOI Listing
June 2019

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Angelman syndrome in Hong Kong Chinese: A 20 years' experience.

Authors:
H M Luk Ivan F M Lo

Eur J Med Genet 2016 Jun 9;59(6-7):315-9. Epub 2016 May 9.

Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region.

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http://dx.doi.org/10.1016/j.ejmg.2016.05.003DOI Listing
June 2016

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

Hong Kong Med J 2015 Dec;21(6):573.e3-5

Clinical Genetic Service, Department of Health, Hong Kong.

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http://dx.doi.org/10.12809/hkmj154728DOI Listing
December 2015

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

J Med Genet 2014 Sep 25;51(9):590-5. Epub 2014 Jul 25.

Faculty of Science, Laboratory of Drosophila Research, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong Faculty of Science, Biochemistry Programme, School of Life Sciences, The Chinese University of Hong Kong, Hong Kong, Hong Kong.

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http://dx.doi.org/10.1136/jmedgenet-2014-102333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145425PMC
September 2014

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

Am J Med Genet A 2014 Oct 16;164A(10):2521-8. Epub 2014 Jul 16.

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.

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http://doi.wiley.com/10.1002/ajmg.a.36670
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http://dx.doi.org/10.1002/ajmg.a.36670DOI Listing
October 2014

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

Eur J Med Genet 2014 Feb 28;57(2-3):81-4. Epub 2013 Dec 28.

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China; Department of Obstetrics & Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.005DOI Listing
February 2014

Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.

Hong Kong Med J 2013 Dec;19(6):556-9

Clinical Genetic Service, Department of Health, Cheung Sha Wan Jockey Club Clinic, Shamshuipo, Kowloon, Hong Kong.

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http://www.hkmj.org/system/files/hkm1312p556.pdf
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http://dx.doi.org/10.12809/hkmj133739DOI Listing
December 2013

A young woman with mucocutaneous pigmentation and intestinal polyps.

Hong Kong Med J 2013 Jun;19(3):276.e3-4

Clinical Genetic Service, Department of Health, Hong Kong.

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http://dx.doi.org/10.12809/hkmj133753DOI Listing
June 2013

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

Hong Kong Med J 2013 Apr;19(2):182-5

Clinical Genetic Service, Department of Health, 2 Kwong Lee Road, Shamshuipo, Hong Kong.

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April 2013

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

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

Clin Dysmorphol 2012 Apr;21(2):64-8

Clinical Genetic Service, Department of Health, Hong Kong, China.

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http://dx.doi.org/10.1097/MCD.0b013e328350509bDOI Listing
April 2012

Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.

Prenat Diagn 2006 Nov;26(11):1018-20

Clinical Genetic Service, Department of Health, HKSAR Government, Hong Kong.

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http://dx.doi.org/10.1002/pd.1547DOI Listing
November 2006

Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene.

J Pediatr Endocrinol Metab 2006 May;19(5):765-70

Department of Paediatrics, Kwong Wah Hospital, 25 Waterloo Road, Kowloon, Hong Kong SAR, China.

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http://dx.doi.org/10.1515/jpem.2006.19.5.765DOI Listing
May 2006

Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

Clin Biochem 2006 Apr 17;39(4):367-72. Epub 2006 Jan 17.

Clinical Genetic Service, Department of Health, Hong Kong SAR, 3/F, Cheung Sha Wan Jockey Club Clinic, Kwong Lee Road, Shumshipo, Kowloon, Hong Kong.

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http://dx.doi.org/10.1016/j.clinbiochem.2005.11.019DOI Listing
April 2006

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

Chin Med J (Engl) 2005 Sep;118(18):1499-506

Clinical Genetic Service, Department of Health, Hong Kong SAR, China.

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September 2005

XX-agonadism in a fetus with multiple congenital anomalies.

Am J Med Genet A 2004 Apr;126A(1):104-5

Department of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong SAR, China.

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http://dx.doi.org/10.1002/ajmg.a.20554DOI Listing
April 2004