Cargando…

A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I

Detalles Bibliográficos
Autores principales:	Yang, Shu-Zhi, Hou, Lei, Qi, Xin, Wang, Guo-Jian, Huang, Sha-Sha, Zhang, Shan-Shan, Huang, Bang-Qing, Yang, Ying, Li, Bei-Cheng, Liu, Shuo, Dai, Pu, Su, Yu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Nature Singapore 2023
Materias:	Research Letter
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10590283/ https://www.ncbi.nlm.nih.gov/pubmed/37704892 http://dx.doi.org/10.1007/s12519-023-00746-2

Ejemplares similares

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
por: Jin, Jie-Yuan, et al.
Publicado: (2021)

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
por: Wang, Juan, et al.
Publicado: (2010)

A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
por: Ma, Jing, et al.
Publicado: (2019)

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II
por: Yang, Shuzhi, et al.
Publicado: (2013)

Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1
por: Hu, Qiuming, et al.
Publicado: (2021)

A Large Novel Deletion Downstream of PAX6 Gene in a Chinese Family with Ocular Coloboma
por: Guo, Hong, et al.
Publicado: (2013)

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
por: Yu, Yongbo, et al.
Publicado: (2020)

A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
por: Yoshida, Yu, et al.
Publicado: (2016)

Waardenburg syndrome
por: Ramakrishnan, Iyer Lavanya, et al.
Publicado: (2023)

A novel PAX6 deletion in a Chinese family with congenital aniridia
por: Chen, Jian Huan, et al.
Publicado: (2012)

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing
por: Zhang, Sen, et al.
Publicado: (2021)

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4
por: Wang, Xiong, et al.
Publicado: (2017)

Shah-Waardenburg Syndrome
por: Mahmoudi, Abdelhalim, et al.
Publicado: (2013)

Syndrome de Waardenburg
por: Madiha, Mahfoudhi, et al.
Publicado: (2015)

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
por: Su, Yu, et al.
Publicado: (2018)

Identification of gross deletions in FBN1 gene by MLPA
por: Yang, Hang, et al.
Publicado: (2018)

Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing
por: Lee, Chen‐Yu, et al.
Publicado: (2022)

Waardenburg Syndrome Expression and Penetrance
por: Shelby, Myeshia V.
Publicado: (2017)

Choroidal thickness in Waardenburg syndrome
por: Rishi, Pukhraj, et al.
Publicado: (2019)

Waardenburg Syndrome Type 1
por: Agrawal, Rakshit, et al.
Publicado: (2022)

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
por: Chen, Dezhong, et al.
Publicado: (2017)

Case report: Exotropia in waardenburg syndrome with novel variations
por: Huang, Lijuan, et al.
Publicado: (2022)

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
por: Jang, Mi-Ae, et al.
Publicado: (2015)

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II
por: Wang, Jing, et al.
Publicado: (2021)

A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
por: Li, Sijun, et al.
Publicado: (2022)

Waardenburg syndrome: A rare case
por: Rawlani, Shivlal M., et al.
Publicado: (2018)

When color matters: Waardenburg syndrome
por: Dave, Tarjani V, et al.
Publicado: (2019)

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
por: Guo, Min, et al.
Publicado: (2023)

Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome
por: Chen, Linjun, et al.
Publicado: (2020)

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families
por: Wang, Li, et al.
Publicado: (2018)

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
por: Zardadi, Safoura, et al.
Publicado: (2021)

Asymmetric severity of diabetic retinopathy in Waardenburg syndrome
por: Kashima, Tomoyuki, et al.
Publicado: (2011)

Audiological outcomes of cochlear implantation in Waardenburg Syndrome
por: Magalhães, Ana Tereza de Matos, et al.
Publicado: (2013)

The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome
por: Koyama, Hajime, et al.
Publicado: (2016)

Perioperative Care of a Patient With Waardenburg Syndrome
por: Holbrook, Miranda, et al.
Publicado: (2021)

Commentary: Waardenburg syndrome: Genetics and ocular features
por: Chakraborty, Koyel, et al.
Publicado: (2022)

Waardenburg syndrome type 1 with unilateral glaucoma
por: Kavitha, Srinivasan, et al.
Publicado: (2022)

Clinical and genetic investigation of families with type II Waardenburg syndrome
por: CHEN, YONG, et al.
Publicado: (2016)

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report
por: Choi, Eun Young, et al.
Publicado: (2018)

Significance analysis of PAX8 expression in endometrial carcinoma
por: Hu, Shan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7kjf9obj0itkoc6s693l38c6oc