Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Ivan F M, Lo"'
Autor:
Henry C. M. Leung, Huijing Yu, Yifan Zhang, Wing Sze Leung, Ivan F. M. Lo, Ho Ming Luk, Wai-Chun Law, Ka Kui Ma, Chak Lim Wong, Yat Sing Wong, Ruibang Luo, Tak-Wah Lam
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Structural variation (SV) is a major cause of genetic disorders. In this paper, we show that low-depth (specifically, 4×) whole-genome sequencing using a single Oxford Nanopore MinION flow cell suffices to support sensitive detection of SV,
Externí odkaz:
https://doaj.org/article/f6842310431a4a36b0dd0196e0ce34ff
Autor:
Janet Ling, Wai Lan Yeung, Kam Lun Hon, Ivan F. M. Lo, Ho-Ming Luk, Cheuk Wing Fung, Alexander K. C. Leung
Publikováno v:
Case Reports in Pediatrics, Vol 2022 (2022)
We report a girl with drug-resistant seizures, progressive behavioral changes, and cognitive decline. Investigations showed abnormal EEG with frequent high-voltage bifrontotemporal sharp and slow waves, especially during sleep. Seizures were difficul
Externí odkaz:
https://doaj.org/article/4470c3c462ce49fcb59037080994e19c
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Autor:
Gordon K. C. Leung, H. M. Luk, Vincent H. M. Tang, W. W. Gao, Christopher C. Y. Mak, Mullin H. C. Yu, W. L. Wong, Yoyo W. Y. Chu, W. L. Yang, Wilfred H. S. Wong, Alvin C. H. Ma, Anskar Y. H. Leung, D. Y. Jin, Kelvin Y. K. Chan, Judith Allanson, Ivan F. M. Lo, Brian H. Y. Chung
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Abstract RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the
Externí odkaz:
https://doaj.org/article/e980db126d344af19a9dfb09f4501b49
Publikováno v:
American Journal of Medical Genetics Part A. 188:1693-1699
KBG syndrome (OMIM #148050) is an autosomal dominant neurodevelopmental disorder characterized by the presence of macrodontia of the permanent central upper incisors, characteristic facial features, delay in development, intellectual disability, shor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79dc08f817540e7d8615c33fe1f1b92
https://doi.org/10.1002/ajmg.a.62688
https://doi.org/10.1002/ajmg.a.62688
Publikováno v:
American Journal of Medical Genetics Part A. 188:1626-1629
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7336e453c3dbc8abc23732a4a35ce0dd
https://doi.org/10.1002/ajmg.a.62646
https://doi.org/10.1002/ajmg.a.62646
Publikováno v:
American Journal of Medical Genetics Part A. 188:984-990
DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::acab82b9421b0cb6f5a3d8beb38cf240
https://doi.org/10.1002/ajmg.a.62571
https://doi.org/10.1002/ajmg.a.62571
Autor:
Annisa S. L. Mak, Ivan F M Lo, Kris P T Yu, Shirley S W Cheng, Man Yan Chung, Stephanie Ho, Ho Ming Luk, Stephen T.S. Lam, W. Y. Lok, Po Lam So, Edgar W L Hau, Ka Wang Cheung, Winnie Hui
Publikováno v:
Prenatal Diagnosis. 41:1089-1100
Objectives Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9182cbaeb8f02b0a2d9d87758cdfbd91
https://doi.org/10.1002/pd.5998
https://doi.org/10.1002/pd.5998
Publikováno v:
American Journal of Medical Genetics Part A. 185:2250-2261
Coffin-Siris syndrome (CSS, MIM# 1359200) is a multisystem congenital disorder characterized by coarse facial features, hypoplasia of the fifth digits and nails, and intellectual disability. It is a genetically heterogeneous condition caused by patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0dd593cd2293c172228d1703fc605a
https://doi.org/10.1002/ajmg.a.62187
https://doi.org/10.1002/ajmg.a.62187
Publikováno v:
American Journal of Medical Genetics Part A. 185:1925-1931
Variants of the diphthamide biosynthesis I (DPH1, OMIM*603527) are associated with developmental delay, short stature, and sparse hair syndrome (DEDSSH/DPH1 syndrome) (OMIM# 616901). Another name is Loucks-Innes syndrome. DPH1 syndrome is an ultrarar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9472397539da696efef7a8218d999af8
https://doi.org/10.1002/ajmg.a.62164
https://doi.org/10.1002/ajmg.a.62164
Publikováno v:
American Journal of Medical Genetics Part A. 185:636-646
Kenny-Caffey syndrome (KCS) type 2 (OMIM 127000) is a rare syndromic cause of hypoparathyroidism which is characterized by proportionate short stature, long bone abnormalities, delayed closure of anterior fontanelle, eye abnormalities, and normal int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5058f4a550313b64a5dd6f0ed1d7f141
https://doi.org/10.1002/ajmg.a.61991
https://doi.org/10.1002/ajmg.a.61991