Výsledky vyhledávání - "Huajuan Tong"

Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis

Autor: Zhihui Yue, Miaoyue Hu, Haiyan Wang, Min Li, Huamu Chen, Liangzhong Sun, Huajuan Tong, Hongrong Lin, Ting Liu

Publikováno v: Clinica Chimica Acta. 506:136-144

Background Nephronophthisis (NPHP) is the most common genetic cause of end-stage renal disease (ESRD) in children. This study was performed to explore the pathogenic gene mutations and clinical and pathological features of Chinese patients with NPHP.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7eef3a07a6c5f803610b175447fab0
https://doi.org/10.1016/j.cca.2020.03.015

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Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion

Autor: Huajuan Tong, Feng Zhao, Yonghui Yang, Xiaojian Qiu, Liying Zhu, Zihua Yu

Publikováno v: Clinical Pediatrics. :000992282311624

Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported. Clinical data

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e81059c9c82d319d16a9f478a7c99dbe
https://doi.org/10.1177/00099228231162416

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High mutation rate ofNPHP3in 18 Chinese infantile nephronophthisis patients

Autor: Zhihui Yue, Jun Li, Huajuan Tong, Haiyan Wang, Liangzhong Sun, Ting Liu, Hongrong Lin, Changxi Wang

Publikováno v: Nephrology. 21:209-216

AIM The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients. METHODS Patients were subjected to screen for mutations in both NPHP2 and NPHP3, and clinical d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9f4cbf6c2cd6f6c96d5cd30f36072cb1
https://doi.org/10.1111/nep.12563

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Clinical features and mutation ofNPHP5in two Chinese siblings with Senior-Løken syndrome

Autor: Zhihui Yue, Huajuan Tong, Liangzhong Sun, Weiguang Wang, Huiqin Chen, Haiyan Wang

Publikováno v: Nephrology. 18:838-842

Senior-Loken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Loken syndrome. NPHP5 mutations are known to cause classical Se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9dd4d55680278ed447323bce2a017197
https://doi.org/10.1111/nep.12156

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Novel mutation of OCRL1 in Lowe syndrome

Autor: Zhihui Yue, Huajuan Tong, Liangzhong Sun, Ting Liu, Haiyan Wang

Publikováno v: Indian journal of pediatrics. 82(1)

Lowe syndrome is a rare, X-linked recessive genetic disease with multi-organ involvement. The pathogenic gene is OCRL1. The authors analyzed the OCRL1 mutation and summarized the clinical features of a Chinese child with Lowe syndrome. The patient is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51faad0820823c6547b82d81173172f
https://pubmed.ncbi.nlm.nih.gov/25297642

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Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome

Autor: Huajuan, Tong, Zhihui, Yue, Liangzhong, Sun, Huiqin, Chen, Weiguang, Wang, Haiyan, Wang

Publikováno v: Nephrology (Carlton, Vic.). 18(12)

Senior-Løken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Løken syndrome. NPHP5 mutations are known to cause classical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3fcfe81750ac300ba050db4a554b56fc
https://pubmed.ncbi.nlm.nih.gov/24674142

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