Výsledky vyhledávání - "Sheng Mou Lin"

Akademický článek

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

Autor: Sheng Mou Lin, Ho Ming Luk, Ivan Fai Man Lo, Wai‐Keung Tam, Kelvin Yuen Kwong Chan, Hei‐Yee Tse, Wing Cheong Leung, Mary Hoi Yin Tang, Anita Sik Yau Kan

Publikováno v: Clinical Case Reports, Vol 8, Iss 8, Pp 1369-1375 (2020)

Abstract Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long‐lived patient with BUB1B‐rela

Externí odkaz: https://doaj.org/article/5f7d3ec0503c48448b3030a1433f610f

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Akademický článek

An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia

Autor: Nan Li, Sheng Mou Lin, Yingting Li, Jimei Sun, Luting Zhang, Min Chen

Publikováno v: Stem Cell Research, Vol 53, Iss , Pp 102322- (2021)

Achondroplasia (ACH; MIM #100800) is an autosomal dominant genetic disease caused by gain-of-function mutations in FGFR3 gene and results in short-limb dwarfism. Here, we generated an induced pluripotent stem cell line GZHMCi004-A derived from umbili

Externí odkaz: https://doaj.org/article/961e832875ac4b21b8524b486f7a8646

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Akademický článek

An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia

Autor: Min Chen, Sheng Mou Lin, Nan Li, Yingting Li, Yufan Li, Luting Zhang

Publikováno v: Stem Cell Research, Vol 51, Iss , Pp 102166- (2021)

Cleidocranial dysplasia (CCD; MIM #119600) is an autosomal dominant genetic disorder caused by heterozygous loss-of-function mutation of the RUNX2 gene, which is important in the differentiation of osteoblasts and maturation of chondrocytes. In this

Externí odkaz: https://doaj.org/article/c08b26808b12457b99b893965f821cc4

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Akademický článek

Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.

Autor: Zhi-yang Hu¹, Sheng-mou Lin^2,3 linsm@hku-szh.org, Meng-jie Zhu², Cindy Ka-Yee Cheung², Tao Liu⁴, Jin Zhu⁵

Publikováno v: Clinical Case Reports. Oct2021, Vol. 9 Issue 10, p1-5. 5p.

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Identify the regulatory network of LncRNA HAR1A in neurological development by RNA-Sequencing and bioinformatics analysis

Autor: Luting Zhang, Sheng Mou Lin, Nan Li, Kailing Huang, ShuHan Shen, Zhouxia Zheng, Xiaoshun Shi, Allen Chen, Jimei Sun, JingYin Kong, Min Chen

Background: LncRNA HAR1A, which is explicitly expressed in Cajal-Retzius neurons (CRs), has been reported to be related to the development of the human brain. As one of the human accelerated regions (HARs) gene, it plays an important role in central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4680c269575f3e217af643adb8c3aad6
https://doi.org/10.21203/rs.3.rs-1434070/v1

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

Autor: Ivan F M Lo, Anita Sik Yau Kan, Hei‐Yee Tse, Wai-Keung Tam, Kelvin Y.K. Chan, Wing Cheong Leung, Ho Ming Luk, Sheng Mou Lin, Mary Hoi Yin Tang

Publikováno v: Clinical Case Reports, Vol 8, Iss 8, Pp 1369-1375 (2020)
Clinical Case Reports

Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long‐lived patient with BUB1B‐related MVA.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::901c647833b647e03182eef8ae970333
https://doaj.org/article/5f7d3ec0503c48448b3030a1433f610f

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Abnormal Y chromosome detection in infertile males using multiplex ligation-dependent probe amplification

Autor: Xiaoying Dai, Fu Shi, Cindy K. Cheung, Sheng-mou Lin, Jue Li

Publikováno v: AndrologiaREFERENCES. 54(2)

Y chromosome abnormalities are the leading cause of male infertility. The clinical detection of abnormalities is necessary for appropriate genetic counselling. This study describes the prevalence, distribution and characteristics of Y chromosome abno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b38238dccddbbed0d49f47a1ace9e3b1
https://pubmed.ncbi.nlm.nih.gov/34791684

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Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency

Autor: Sheng-mou Lin, Zhi-yang Hu, Tao Liu, Meng-jie Zhu, Cindy K. Cheung, Jin Zhu

Publikováno v: Clinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)
Clinical Case Reports

Pfeiffer syndrome (PS) is a rare autosomal dominant genetic disorder characterized by craniosynostosis, broad thumbs / toes. Here, we report a case of PS type 2 with increased nuchal translucency in early trimester.
Pfeiffer syndrome (PS) is a r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a44294a26f8c9def11308615f0685057
https://doaj.org/article/fbbfec462e8d489bbd08ca942a57659a

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