Works matching AU Lin, Zhimiao

Results: 49

Tonsillar fat herniation: A novel finding in Goltz syndrome.

Published in:

2020

By:

Zijuan Wang;
Huijun Wang;
Zhimiao Lin;
Wang, Zijuan;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Case Study

Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva.

Published in:

2020

By:

Shangzhi Dai;
Huijun Wang;
Zhimiao Lin;
Dai, Shangzhi;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Letter

Annular Plaques With Skin Atrophy in a Young Patient.

Published in:

2017

By:

Eray Yihui Zhou;
Yi Zhao;
Zhimiao Lin;
Zhou, Eray Yihui;
Zhao, Yi;
Lin, Zhimiao

Publication type:

journal article

A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1.

Published in:

Clinical & Experimental Dermatology, 2023, v. 48, n. 6, p. 693, doi. 10.1093/ced/llad061

By:

Xue, Ruzeng;
Cheng, Qing;
Li, Ming;
Peng, Sha;
Liang, Lina;
Lin, Mao-ying;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Treatment of autosomal recessive congenital ichthyosis caused by a NIPAL4 variant with upadacitinib.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2025, v. 39, n. 1, p. e91, doi. 10.1111/jdv.20130

By:

Gong, Zhuoqing;
Wang, Yu;
Jiang, Xingyuan;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 4, p. e323, doi. 10.1111/jdv.19598

By:

Gong, Zhuoqing;
Chen, Kai;
Xu, Zhe;
Yang, Zhou;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

A novel KRT16 frameshift variant causing pachyonychia congenita by re‐initiation of translation.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 2, p. e166, doi. 10.1111/jdv.18580

By:

Wang, Sai;
Bai, Qianqian;
Lee, Mingyang;
Lin, Zhimiao;
Cai, Liangqi;
Wang, Huijun

Publication type:

Article

ACTB Mutations Analysis and Genotype–Phenotype Correlation in Becker's Nevus.

Published in:

Biomedicines, 2021, v. 9, n. 12, p. 1879, doi. 10.3390/biomedicines9121879

By:

Dai, Shangzhi;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Sitosterolaemia presenting with consistent skin xanthomas in a pair of monozygotic twins who responded to ezetimibe treatment.

Published in:

Clinical & Experimental Dermatology, 2023, v. 48, n. 11, p. 1292, doi. 10.1093/ced/llad232

By:

Zemin Zhong;
Chao Yang;
Zhimiao Lin

Publication type:

Article

PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review.

Published in:

Clinical & Experimental Dermatology, 2023, v. 48, n. 9, p. 1052, doi. 10.1093/ced/llad167

By:

Hu, Bin;
Gong, Zhuoqing;
Peng, Sha;
Wang, Huijin;
Chen, Liuqing;
Lin, Zhimiao

Publication type:

Article

A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair.

Published in:

Clinical & Experimental Dermatology, 2023, v. 48, n. 7, p. 794, doi. 10.1093/ced/llad071

By:

Cai, Liangqi;
Lin, Zhimiao;
Wang, Huijun

Publication type:

Article

Loss‐of‐function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.

Published in:

Clinical Genetics, 2023, v. 103, n. 3, p. 301, doi. 10.1111/cge.14265

By:

Wang, Xuan;
Liu, Jun;
Chen, Junyi;
Xu, Xueyan;
Zhong, Yadan;
Xu, Yingping;
Lu, Ping;
Zhou, Jiajian;
Lin, Zhimiao;
Yang, Bin;
Yang, Chao

Publication type:

Article

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02860-w

By:

Zhang, Bin;
He, Rui;
Xu, Zigang;
Sun, Yujuan;
Wei, Li;
Li, Li;
Liu, Yuanxiang;
Guo, Wu;
Song, Li;
Wang, Huijun;
Lin, Zhimiao;
Ma, Lin

Publication type:

Article

New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with Nagashima-Type Palmoplantar Keratosis.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2269, doi. 10.1038/jid.2014.80

By:

Yin, Jinghua;
Xu, Guiwen;
Wang, Huijun;
Zhao, Jiahui;
Duo, Lina;
Cao, Xu;
Tang, Zhanli;
Lin, Zhimiao;
Yang, Yong

Publication type:

Article

Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 1, p. 284, doi. 10.1038/jid.2013.302

By:

Cao, Xu;
Yin, Jinghua;
Wang, Huijun;
Zhao, Jiahui;
Zhang, Jie;
Dai, Lanlan;
Zhang, Jianguo;
Jiang, Hui;
Lin, Zhimiao;
Yang, Yong

Publication type:

Article

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2022, v. 88, n. 1, p. 132, doi. 10.25259/IJDVL_488_20

By:

Zijuan Wang;
Zhimiao Lin;
Huijun Wang

Publication type:

Article

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.

Published in:

2021

By:

Wang, Zijuan;
Lin, Zhimiao;
Wang, Huijun

Publication type:

Letter

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.

Published in:

Hereditas, 2021, v. 158, n. 1, p. 1, doi. 10.1186/s41065-021-00184-y

By:

Yan, Wei;
Zhang, Bin;
Wang, Huijun;
Mo, Ran;
Jiang, Xingyuan;
Qin, Wen;
Ma, Lin;
Lin, Zhimiao

Publication type:

Article

Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma.

Published in:

2023

By:

Zhou, Shengru;
Jiang, Xingyuan;
Zhu, Yuhao;
Yang, Jianqiu;
Yuan, Chunyu;
Chen, Min;
Zhou, Qianqian;
Lin, Zhimiao;
Li, Min

Publication type:

Case Study

Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 136, doi. 10.1093/bjd/ljaf062

By:

Wang, Zijuan;
Liu, Jun;
Wechsberg, Oded;
Liang, Lina;
Keegan, Catherine E;
Sloan-Heggen, Christina;
Mo, You;
Luo, Yangyang;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Improvement in palmoplantar keratoderma–congenital alopecia type 2 treated with topical simvastatin–cholesterol ointment.

Published in:

British Journal of Dermatology, 2025, v. 192, n. 3, p. 560, doi. 10.1093/bjd/ljae423

By:

Yang, Fang;
Luo, Wanting;
Wang, Huijun;
Li, Qian;
Hu, Shuanghai;
Lin, Zhimiao

Publication type:

Article

A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts.

Published in:

British Journal of Dermatology, 2024, v. 191, n. 5, p. 805, doi. 10.1093/bjd/ljae291

By:

Wang, Huijun;
Wu, Yuan;
Bassetti, Jennifer A;
Wang, Zhaoyang;
Oza, Vikash S;
Rangu, Sneha A;
McGivern, Bobbi;
Peng, Sha;
Liang, Lina;
Huang, Shimiao;
Gong, Zhuoqing;
Xu, Zigang;
Lin, Zhimiao

Publication type:

Article

A loss-of-function variant in KLF4 affecting zinc finger motifs causes progressive symmetric erythrokeratodermia.

Published in:

British Journal of Dermatology, 2024, v. 191, n. 5, p. 843, doi. 10.1093/bjd/ljae275

By:

Wang, Zijuan;
Zhang, Zeqiao;
Liu, Jun;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Progressive hyperpigmentation and lentigines due to KIT variants improving with imatinib.

Published in:

British Journal of Dermatology, 2024, v. 191, n. 1, p. 148, doi. 10.1093/bjd/ljae109

By:

Liang, Lina;
Peng, Sha;
Huang, Shimiao;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.

Published in:

British Journal of Dermatology, 2024, v. 191, n. 1, p. 107, doi. 10.1093/bjd/ljae108

By:

Jiang, Xingyuan;
Yang, Chao;
Wang, Zhaoyang;
Liang, Lina;
Gong, Zhuoqing;
Huang, Shimiao;
Xu, Zigang;
Zhang, Bin;
Pei, Xiaoping;
Cai, Liangqi;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Identification of the underlying gene for Flegel disease: another 'two-hit' genodermatosis?

Published in:

British Journal of Dermatology, 2023, v. 188, n. 1, p. 7, doi. 10.1093/bjd/ljac063

By:

Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.

Published in:

British Journal of Dermatology, 2023, v. 188, n. 1, p. 100, doi. 10.1093/bjd/ljac029

By:

Gong, Zhuoqing;
Dai, Shangzhi;
Jiang, Xingyuan;
Lee, Mingyang;
Zhu, Xuejun;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Three new founder mutations in Chinese patients with Nagashima‐type palmoplantar keratoderma.

Published in:

British Journal of Dermatology, 2022, v. 187, n. 6, p. 1043, doi. 10.1111/bjd.21835

By:

Liu, Juan;
Chen, Zhiming;
Hu, Linghan;
Song, Zhongya;
Mo, Ran;
Tsang, Lemuel Shui‐Lun;
Liu, Yihe;
Huang, Xin;
Gong, Zhuoqing;
Xiang, Ruiyu;
Lin, Zhimiao;
Yang, Yong

Publication type:

Article

A novel loss-of-function variant in STAT1 causes Mendelian susceptibility to mycobacterial disease.

Published in:

2025

By:

Lv, Kunlun;
Gong, Zhuoqing;
Fu, Yiting;
Zhao, Sisi;
Song, Yinggai;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Case Study

Bilateral Symmetrical Nodules on the Thumbs in a Female Patient: A Quiz.

Published in:

Acta Dermato-Venereologica, 2023, v. 103, p. 1, doi. 10.2340/actadv.v103.11143

By:

TungChun LEE;
YiKe HUANG;
Juan WANG;
Zhimiao LIN

Publication type:

Article

Generalized Skin Scaling in a Young Girl: A Quiz.

Published in:

2019

By:

Ran MO;
Huijun WANG;
Zhimiao LIN

Publication type:

Case Study

ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genitourinary Involvement.

Published in:

2015

By:

Mingyang Lee;
Quan Chen;
Huijun Wang;
Jie Zhang;
Zhimiao Lin;
Yong Yang

Publication type:

Case Study

Visit Adherence of Mild to Moderate Psoriasis Patients: A Mobile-Based Randomized Study.

Published in:

Patient Preference & Adherence, 2021, v. 15, p. 2551, doi. 10.2147/PPA.S277103

By:

Zhao, Yi;
Wang, Gang;
Ni, Wenqiong;
Song, Zhiqiang;
Chen, Kun;
Zhang, Chunlei;
Zhang, Shoumin;
Ding, Yangfeng;
Zheng, Min;
Shi, Yulin;
Lin, Zhimiao;
Liu, Xiaomin;
Zhang, Xiaofei;
Zhou, Qintian;
Ahmed, Kazi Deluwar

Publication type:

Article

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1711, doi. 10.1093/brain/awp078

By:

Han, Chongyang;
Dib-Hajj, Sulayman D.;
Lin, Zhimiao;
Li, Yan;
Eastman, Emmanuella M.;
Tyrrell, Lynda;
Cao, Xianwei;
Yang, Yong;
Waxman, Stephen G.

Publication type:

Article

Efficacy, safety, and cost‐effectiveness of all‐trans retinoic acid/Clobetasol Propionate Compound Ointment in the treatment of mild to moderate psoriasis vulgaris: A randomized, single‐blind, multicenter clinical trial.

Published in:

Dermatologic Therapy, 2018, v. 31, n. 5, p. N.PAG, doi. 10.1111/dth.12632

By:

Xia, Lixin;
Gao, Xing‐Hua;
Li, Ruoyu;
Wang, Yun;
Lin, Zhimiao;
Zheng, Jie;
Li, Xia;
Lu, Qianjin;
Zhang, Jing;
Jin, Hongzhong;
Fu, Lanqin;
Zhang, Xibao;
Liu, Yumei;
Yang, Sen;
Xiao, Fengli

Publication type:

Article

Mosaic TMEM173 gene mutation R284S leading to STING‐associated vasculopathy with onset in infancy (SAVI).

Published in:

International Journal of Dermatology, 2025, v. 64, n. 2, p. 448, doi. 10.1111/ijd.17445

By:

Yang, Zhou;
Lin, Zhimiao;
Zhang, Bin

Publication type:

Article

Two cases of Chanarin‐Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.

Published in:

International Journal of Dermatology, 2021, v. 60, n. 7, p. 904, doi. 10.1111/ijd.15432

By:

Jiang, Xingyuan;
Zhong, Weilong;
Yu, Bo;
Lin, Zhimiao;
Wang, Huijun

Publication type:

Article

Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.

Published in:

International Journal of Dermatology, 2015, v. 54, n. 2, p. 185, doi. 10.1111/ijd.12655

By:

Yin, Jinghua;
Ren, Yali;
Lin, Zhimiao;
Wang, Huijun;
Zhou, Yun;
Yang, Yong

Publication type:

Article

Epidermolysis Bullosa Pruriginosa Treated With Upadacitinib.

Published in:

JAMA Dermatology, 2024, v. 160, n. 10, p. 1124, doi. 10.1001/jamadermatol.2024.2787

By:

Zhang, Zeqiao;
Lin, Zhimiao

Publication type:

Article

Sodium-Dependent Multivitamin Transporter Deficiency.

Published in:

JAMA Dermatology, 2024, v. 160, n. 9, p. 993, doi. 10.1001/jamadermatol.2024.1845

By:

Jiang, Xingyuan;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Focal Dermal Hypoplasia.

Published in:

JAMA Dermatology, 2023, v. 159, n. 9, p. 998, doi. 10.1001/jamadermatol.2023.2435

By:

Lee, Tungchun;
Lin, Mao-ying;
Lin, Zhimiao

Publication type:

Article

Epidermolysis Bullosa Pruriginosa Treated With Baricitinib.

Published in:

2021

By:

Jiang, Xingyuan;
Wang, Huijun;
Lee, Mingyang;
Lin, Zhimiao

Publication type:

journal article

Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis.

Published in:

2021

By:

Mo, Ran;
Xu, Zhe;
Wang, Huijun;
Yan, Wei;
Jiang, Xingyuan;
Lin, Zhimiao

Publication type:

journal article

Dry Scaly Patches and Nodules in a Middle-aged Man.

Published in:

2019

By:

Wang, Ruojun;
Wang, Yang;
Lin, Zhimiao

Publication type:

journal article

Linear Keratotic Lesions in a Young Woman.

Published in:

2018

By:

Li, Yuan;
Wang, Yuhan;
Lin, Zhimiao

Publication type:

journal article

Disseminated Asymptomatic Papules Over the Body.

Published in:

2018

By:

Wang, Ruojun;
Lin, Zhimiao

Publication type:

journal article

Oral Acyclovir and Intralesional Interferon Injections for Treatment of Giant Pyogenic Granuloma-Like Lesions in an Immunocompromised Patient With Human Orf.

Published in:

JAMA Dermatology, 2015, v. 151, n. 9, p. 1032, doi. 10.1001/jamadermatol.2015.0760

By:

Menglong Ran;
Mingyang Lee;
Jie Gong;
Zhimiao Lin;
Ruoyu Li

Publication type:

Article

Generalized bullae in a young girl with KRT6A‐related pachyonychia congenita.

Published in:

Pediatric Dermatology, 2020, v. 37, n. 5, p. 974, doi. 10.1111/pde.14285

By:

Liu, Jie;
Zhong, Weilong;
Yu, Bo;
Lin, Zhimiao;
Zheng, Yalei;
Hu, Xiaoping

Publication type:

Article

A Case of Hailey-Hailey Disease in an Infant with a New ATP2C1 Gene Mutation.

Published in:

Pediatric Dermatology, 2011, v. 28, n. 2, p. 165, doi. 10.1111/j.1525-1470.2010.01088.x

By:

Zhe Xu;
Lixin Zhang;
Yuanyuan Xiao;
Li Li;
Zhimiao Lin;
Yong Yang;
Lin Ma

Publication type:

Article