日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Validation of the Ectropion Severity Score in Epidermal Differentiation Disorders

表皮分化障碍中睑外翻严重程度评分的验证

Echeandia-Francis, Caroline; Luo, Angela J; Jiang, Xingyuan; Ellis, Katharine T; Mani, Mitra V; Chen, Tiffany X; Gan, Geliang; Deng, Yanhong; Choate, Keith A

De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.

De Novo Germline L858R EGFR 变异与全身性黑棘皮病。

Jiang Xingyuan, Jeng Mark Y, Yang Zhou, Ugwu Nelson, Cheng Yuan, Echeandia-Francis Caroline, Mortlock Ryland D, Mani Mitra V, Rekhtman Natasha, Podolanczuk Anna J, Fiorino Elizabeth, Plodkowski Andrew, Lekwuttikarn Ramrada, Teng Joyce, Walsh Michael F, Yu Helena A, Lin Zhimiao, Choate Keith A

Progressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants

与双等位基因PNPLA1变异相关的进行性对称性红斑角化病

Jiang, Xingyuan; Echeandia-Francis, Caroline; Mani, Mitra V; Hyden, Martin; Lange-Asschenfeldt, Bernhard; Hügel, Rainer; Hausser, Ingrid; Süßmuth, Kira; Oji, Vinzenz; Kopp, Julia; Liu, William; Fischer, Judith; Choate, Keith A

Erythrokeratodermia-Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions

红斑角化病-心肌病综合征:DSP突变谱的扩展,超越脯氨酸取代

Hamzehlou, Sepideh; Mortlock, Ryland D; Echeandia-Francis, Caroline; Zhou, Jing; Xing, Chao; Agim, Nnenna G; Choate, Keith A; Glass, Donald A 2nd

A 12-year expanding pink plaque on the chest

胸部有一块持续12年、不断扩大的粉红色斑块。

Etaee, Farshid; Castiglione, Frank; Jiang, Xingyuan; Hu, Ronghua; Galan, Anjela; Choate, Keith A; Vesely, Matthew D

Reliability of the Ichthyosis Scoring System in Individuals With Skin of Color

鱼鳞病评分系统在有色人种中的可靠性

Luo, Angela J; Arkin, Lisa M; Asch, Sarah; Benjamin, Latanya; Bruckner, Anna L; Cossio, María Laura; Diaz, Lucia; Lilly, Evelyn; Mathes, Erin F; Nelson, Caroline A; Pope, Elena; Ramachandran, Sarika; Siegel, Dawn H; Teng, Joyce M C; Xu, Yunshan; Deng, Yanhong; Paller, Amy S; Choate, Keith A

Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma

常染色体显性遗传的SLURP1变异会导致掌跖角化症和进行性对称性红斑角化症。

Jiang, Xingyuan; Mortlock, Ryland D; Lomakin, Ivan B; Zhou, Jing; Hu, Ronghua; Cossio, María Laura; Bunick, Christopher G; Choate, Keith A

Linear epidermal naevus associated with a novel mosaic heterozygous PTPN11 variant

与一种新型嵌合杂合PTPN11变异相关的线状表皮痣

Jiang, Xingyuan; Chen, Tiffany X; Hu, Ronghua; Mortlock, Ryland D; Ko, Christine; Choate, Keith A

An analysis of preterm birth rates among 500 kindreds with epidermal differentiation disorders

对500个患有表皮分化障碍的家族的早产率进行分析

Echeandia-Francis, Caroline; Choate, Keith A

A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma.

EMP2 中反复出现的新生有害变异会导致进行性对称性红斑角化症

Jiang Xingyuan, Mortlock Ryland D, Pironon Nathalie, Zhou Jing, Hu Ronghua, Liu William, Acosta Agustina, Shwayder Tor A, Hovnanian Alain, Lifton Richard P, Choate Keith A