Zobrazeno 1 - 10 of 17 pro vyhledávání: '"Angel On-Kei Chan"'
1
Akademický článek
A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences
Autor: Yat-Fung Shea, Leung-Wing Chu, Angel On-Kei Chan, Joyce Ha, Yan Li, You-Qiang Song
Publikováno v: Journal of the Formosan Medical Association, Vol 115, Iss 2, Pp 67-75 (2016)
There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients.
Externí odkaz: https://doaj.org/article/6bcef58682a3480b9a3c88b6150ecf51
Zobrazit plný text záznamu
2
Akademický článek
Delayed diagnosis of an old Chinese woman with familial Alzheimer's disease
Autor: Yat-Fung Shea, Leung-Wing Chu, Angel On-Kei Chan, Joseph Shiu-Kwong Kwan
Publikováno v: Journal of the Formosan Medical Association, Vol 114, Iss 10, Pp 1020-1021 (2015)
Externí odkaz: https://doaj.org/article/730e14efcb6247008cd12a654f44f9b7
Zobrazit plný text záznamu
3
A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences
Autor: You-Qiang Song, Leung-Wing Chu, Yan Li, Yat Fung Shea, Angel On-Kei Chan, Joyce Ha
Publikováno v: Journal of the Formosan Medical Association, Vol 115, Iss 2, Pp 67-75 (2016)
There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2bea5e3049d47ef23b8e6600d081cf0
https://doi.org/10.1016/j.jfma.2015.08.004
Zobrazit plný text záznamu
4
A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality
Autor: Sophelia H. S. Chan, Inger Johanne Thuestad, Aad Verrips, Brian H.Y. Chung, Janice Ip, Erik-Jan Kamsteeg, Christopher C.Y. Mak, Nens van Alfen, Angel On-Kei Chan
Publikováno v: Neuromuscular Disorders, 28, 750-756
Neuromuscular Disorders, 28, 9, pp. 750-756
Item does not contain fulltext We describe four unrelated patients with the same de novo heterozygous missense mutation c.751C>T in the DYNC1H1 gene. We found a high phenotype-genotype correlation with all four patients having early childhood-onset p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03fe0e852282dbcca53b50cd722cf691
http://hdl.handle.net/2066/196601
Zobrazit plný text záznamu
5
Significance of Size of Persistent/Recurrent Central Nodal Disease on Surgical Morbidity and Response to Therapy in Reoperative Neck Dissection for Papillary Thyroid Carcinoma
Autor: Angel On-Kei Chan, Chung-Yau Lo, Tony W. H. Shek, Brian Hung-Hin Lang, Koon Yat Wan
Publikováno v: Thyroid : official journal of the American Thyroid Association. 27(1)
To balance the risk of disease progression, morbidity, and efficacy of reoperative central neck dissection (RCND) in papillary thyroid carcinoma, the latest clinical guidelines recommend early surgery over surveillance when the largest diseased node
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::054eea4c92fe9de510238919d65666e5
https://pubmed.ncbi.nlm.nih.gov/27750029
Zobrazit plný text záznamu
6
Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease
Autor: Yat Fung Shea, Kit-ling Yiu, Chun-yin Law, Shui-Ching Lee, Patrick K C Chiu, Chung-him See, Angel On-Kei Chan, Leung-Wing Chu
Publikováno v: Neurobiology of aging. 50
Autosomal dominant familial Alzheimer's disease accounts for 0.5% of all Alzheimer's disease. A familial Alzheimer's disease Chinese family, with 7 affected family members, underwent PSEN1 screening in 3 affected family members. A heterozygous novel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d1e45e2802a3483356c190ebfdba27
https://pubmed.ncbi.nlm.nih.gov/27816212
Zobrazit plný text záznamu
8
Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation
Autor: Shun Hin Ting, Annie Ting Gee Chiu, Virginia Wong, Shun Ping Wu, Brian H.Y. Chung, Angel On-Kei Chan, Sophelia H. S. Chan
Publikováno v: Child Neurology Open
Child Neurology Open, Vol 5 (2018)
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33c2dcbee88be2b3ac487badd4fdf4cb
https://doi.org/10.1177/2329048x18769811
Zobrazit plný text záznamu
10
A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia
Autor: Wai-man But, Gene Tze-chin Lau, Wing-yee Tse, C C Shek, Angel On-Kei Chan
Publikováno v: Clinica Chimica Acta. 368:120-124
Background Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene. Methods A Chinese neonate with non-consanguineous parents was incident
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13013a483443bfec276b7bc9ed5e7db1
https://doi.org/10.1016/j.cca.2005.12.020
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje