Zobrazeno 1 - 10
of 3 770
pro vyhledávání: '"Nonsyndromic"'
Publikováno v:
The Egyptian Journal of Otolaryngology, Vol 40, Iss 1, Pp 1-19 (2024)
Abstract Background The diagnosis of auditory neuropathy spectrum disorder (ANSD) is based on the existence of cochlear microphonics or otoacoustic emissions, as well as aberrant or nonexistent-evoked auditory brainstem responses. The outcomes of coc
Externí odkaz:
https://doaj.org/article/050d4ca9b370489084df440a87d3e731
Autor:
Daniela Hristov, Done Stojanov
Publikováno v:
Reproductive Medicine, Vol 5, Iss 3, Pp 136-153 (2024)
In this study, we analyzed the regulatory properties of 26 (twenty-six) genes associated with nonsyndromic male infertility. We applied an in silico analysis in order to determine the number and distribution of promoters and identify relevant promote
Externí odkaz:
https://doaj.org/article/962712b2af5b4ef89198836876ab8199
Publikováno v:
Radiology Case Reports, Vol 20, Iss 3, Pp 1342-1344 (2025)
Teeth, either erupted or impacted, that exceed the normal count are known as supernumerary teeth. They can appear unilaterally or bilaterally, singly or in multiples, and may be located anywhere in both dental arches. Multiple permanent impacted supe
Externí odkaz:
https://doaj.org/article/6472814d2b6a434d84b2e504efb58b2a
Autor:
Chuican Huang, Zhenning Huang, Ping Wang, Xijing Wu, Qiaomiao Zhou, Jun Ding, Qing Luo, Weijia Wu, Xialin Fan, Lichun Fan
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The MARVELD2 gene is located on chromosome 5q13.2 and is associated with autosomal recessive nonsyndromic hearing loss (OMIM: # 610572). In this study, we identified and reported a novel nonsense mutation in MARVELD2 c. 663G > A in a Chinese family.
Externí odkaz:
https://doaj.org/article/ca6462462cd84cffa30d1e45e1302908
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)
Abstract Knockout of GAS2 (growth arrest-specific protein 2), causes disorganization and destabilization of microtubule bundles in supporting cells of the cochlear duct, leading to hearing loss in vivo. However, the molecular mechanism through which
Externí odkaz:
https://doaj.org/article/dccb136f7e7a4fcbaeab580c060b7996
Autor:
Azeez Alade, Peter Mossey, Waheed Awotoye, Tamara Busch, Abimbola M. Oladayo, Emmanuel Aladenika, Mojisola Olujitan, Emma Wentworth, Deepti Anand, Thirona Naicker, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Erliang Zeng, Eric Van Otterloo, Michael O’Rorke, Adebowale Adeyemo, Jeffrey C. Murray, Justin Cotney, Salil A. Lachke, Paul Romitti, Azeez Butali
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been impli
Externí odkaz:
https://doaj.org/article/95d6a791a7eb4ad7b423f503b9f69c2c
Autor:
Hitomi Aono‐Setoguchi, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Issei Komuro, Norihiko Takeda
Publikováno v:
Clinical Case Reports, Vol 12, Iss 8, Pp n/a-n/a (2024)
Key Clinical Message Genetic variants associated with hereditary TAAD may contribute to nonsyndromic TAAD. We present the case of a 72‐year‐old man with nonsyndromic TAAD undergoing prophylactic surgery after a gene panel test revealed a pathogen
Externí odkaz:
https://doaj.org/article/1133fb7f88084d5ab7daafe84d829de6
Autor:
Yan-Qiong Li, Heng Ma, Qin-Yao Wang, De-Sheng Liu, Wei Wang, Shi-Xin Li, Rong-Xia Zuo, Tao Shen, Bao-Sheng Zhu, Ya-Lian Sa
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Gene variants are responsible for more than half of hearing loss, particularly in nonsyndromic hearing loss (NSHL). The most common pathogenic variant in SLC26A4 gene found in East Asian populations is c.919-2A > G followed by c.2
Externí odkaz:
https://doaj.org/article/88e8048fa4a540c69bc971e45a951652
Autor:
Toshiyuki Itai, Fangfang Yan, Andi Liu, Yulin Dai, Chihiro Iwaya, Sarah W. Curtis, Elizabeth J. Leslie, Lukas M. Simon, Peilin Jia, Xiangning Chen, Junichi Iwata, Zhongming Zhao
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100313- (2024)
Summary: Orofacial clefts (OFCs) are common congenital birth defects with various etiologies, including genetic variants. Online Mendelian Inheritance in Man (OMIM) annotated several hundred genes involving OFCs. Furthermore, several hundreds of de n
Externí odkaz:
https://doaj.org/article/d1da2bc8f18746018552c2282332f15a
Autor:
Fatemeh Zahedipour, Hamid Reza Khorram Khorshid, Emran Esmaeilzadeh, Koorosh Kamali, Asghar Ebadifar
Publikováno v:
Journal of Dental Research, Dental Clinics, Dental Prospects, Vol 17, Iss 3, Pp 149-153 (2023)
Background. Cleft lip/palate (CL/P) is a prevalent congenital disorder. Matrix metalloproteinases (MMPs) play a role in palatogenesis and have been proposed to be associated with nonsyndromic CL/P development. This study aimed to examine the associat
Externí odkaz:
https://doaj.org/article/62969343e67946a7bebd4375b873ec2f