Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Beiping Zeng"'
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-8 (2022)
Abstract Background Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder, with only a few reported cases worldwide. Herein, we describe the clinical features and un
Externí odkaz:
https://doaj.org/article/456d8b566bfc4180b6aedb7051888073
Autor:
Beiping Zeng, Hongen Xu, Yongan Tian, Qianyu Lin, Haifeng Feng, Zhifeng Zhang, Siqi Li, Wenxue Tang, Lishao Guo
Publikováno v:
Chinese Medical Journal, Vol 135, Iss 21, Pp 2631-2633 (2022)
Externí odkaz:
https://doaj.org/article/aa1e1e9603e1453ca3c8bb09d58def62
Autor:
Beiping Zeng, Hongen Xu, Yanan Yu, Siqi Li, Yongan Tian, Tiandong Li, Zengguang Yang, Haili Wang, Guangke Wang, Mingxiu Chang, Wenxue Tang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Hearing loss is one of the most common sensory disorders in humans. This study proposes a stepwise strategy of deafness gene detection using multiplex PCR combined with high-throughput sequencing, Sanger sequencing, multiplex ligation-dependent probe
Externí odkaz:
https://doaj.org/article/150429d6223547e2b6ef0c514dc5c167
Autor:
Lu Mao, Yueqiang Wang, Lei An, Beiping Zeng, Yanyan Wang, Dmitrij Frishman, Mengli Liu, Yanyu Chen, Wenxue Tang, Hongen Xu
Publikováno v:
Biology, Vol 12, Iss 4, p 505 (2023)
The GJB2 gene is the most common gene responsible for hearing loss (HL) worldwide, and missense variants are the most abundant type. GJB2 pathogenic missense variants cause nonsyndromic HL (autosomal recessive and dominant) and syndromic HL combined
Externí odkaz:
https://doaj.org/article/81cc672b2155480080d62cc8fd3f4a5c
Autor:
Haifeng Feng, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang, Wei Lu
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS) are rare autosomal dominant disorders defined by varying combinations of branchial, otic, and renal anomalies. Here, we characterized the clinical features and genetic etio
Externí odkaz:
https://doaj.org/article/0a8687c19f29430a9fc3ebaeb53b0ada
Autor:
Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 bein
Externí odkaz:
https://doaj.org/article/ce3d6348dd6d438c8ace52ddb296038a
Autor:
Sen Zhang, Hongen Xu, Yongan Tian, Danhua Liu, Xinyue Hou, Beiping Zeng, Bei Chen, Huanfei Liu, Ruijun Li, Xiaohua Li, Bin Zuo, Ryan Tang, Wenxue Tang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveThis study aimed to explore the genetic causes of probands who were diagnosed with Waardenburg syndrome (WS) or congenital sensorineural hearing loss.MethodsA detailed physical and audiological examinations were carried out to make an accura
Externí odkaz:
https://doaj.org/article/ba5cc58d7d8b4195bd1f1a239c8c0569
Autor:
Yanfang Mi, Danhua Liu, Beiping Zeng, Yongan Tian, Hui Zhang, Bei Chen, Juanli Zhang, Hong Xue, Wenxue Tang, Yulin Zhao, Hongen Xu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Autosomal dominant hearing loss (ADHL) accounts for about 20% of all hereditary non‐syndromic HL. Truncating mutations of the EYA4 gene can cause either non‐syndromic ADHL or syndromic ADHL with cardiac abnormalities. It has b
Externí odkaz:
https://doaj.org/article/19ec8a09492f4e1f90435ea9926f26be
Autor:
Lu Mao, Yueqiang Wang, Lei An, Beiping Zeng, Yanyan Wang, Dmitrij Frishman, Mengli Liu, Yanyu Chen, Wenxue Tang, Hongen Xu
The GJB2 gene is the most common gene responsible for hearing loss (HL) worldwide, and missense variants are the most abundant type. GJB2 pathogenic missense variants cause nonsyndromic HL (autosomal recessive and dominant) and syndromic HL combined
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d954c0cbcda73e78b8a225b7b91d2c5
https://mediatum.ub.tum.de/1707669
https://mediatum.ub.tum.de/1707669
Autor:
Ruijun Li, Zengguang Yang, Beiping Zeng, Ying Xu, Ying Shi, Juanli Zhang, Lu Wei, Sen Zhang, Bei Chen, Yan Zhang, Hui Zhang, Tian Yingtao, Chang Jiang, Jun Liu, Danhua Liu, Xiaohua Li, Hongen Xu, Wenxue Tang, Huanfei Liu, Yongan Tian, Haili Wang, Tong Li, Qianyu Lin
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Background The enlarged vestibular aqueduct (EVA) is the commonest malformation of inner ear accompanied by sensorineural hearing loss in children. Three genes SLC26A4, FOXI1, and KCNJ10 have been associated with EVA, among them SLC26A4 being the mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce215c6ba2551060003186e2a60f8296
http://europepmc.org/articles/PMC8404235
http://europepmc.org/articles/PMC8404235