Search Results - "Zhou, Eray Yihui"
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Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
Published in American journal of human genetics (05-03-2015)“…Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin…”
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Quality of life of adult vitiligo patients using camouflage: A survey in a Chinese vitiligo community
Published in PloS one (24-01-2019)“…Vitiligo is an acquired depigmented skin disease resulting in white macules, which may significantly impair the quality of life (QoL) of the patients. To…”
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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome
Published in Human molecular genetics (01-01-2015)“…Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin hyperkeratosis,…”
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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome
Published in Human molecular genetics (15-11-2015)Get full text
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Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients
Published in Journal of dermatology (01-01-2017)“…Xeroderma pigmentosum (XP) is a rare genetic disorder which is divided into eight complementation groups: XP‐A to XP‐G and XP‐V. Some XP patients demonstrate…”
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sQUIZ your knowledge! Erythematous annular plaques in a patient with diabetes mellitus
Published in EJD. European journal of dermatology (01-12-2019)Get full text
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Annular Plaques With Skin Atrophy in a Young Patient
Published in JAMA dermatology (Chicago, Ill.) (01-06-2017)Get more information
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Is chemoprophylaxis necessary for all latent tuberculosis infection patients receiving IL‐17 inhibitors? A cohort study
Published in Dermatologic therapy (01-11-2020)“…The tuberculosis (TB) burden is high in China, with a 32% prevalence of latent tuberculosis infection (LTBI) in Beijing. Screening for LTBI and the…”
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Clinical and pathological evaluation of cladribine treatment response in a case series of patients with xanthoma disseminatum
Published in EJD. European journal of dermatology (01-06-2023)“…Background Xanthoma disseminatum (XD) is a rare form of non-Langerhans histiocytosis with extensive cutaneous involvement. There is a paucity of evidence-based…”
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A proposed scoring system for facial port‐wine stain evaluation: Facial port‐wine stain area and severity index
Published in Journal of cosmetic dermatology (01-07-2022)“…Background Port‐wine stain (PWS) is a congenital capillary malformation that often occurs on the face. Feasible and quantitative evaluation of facial port‐wine…”
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Epidermoid cyst removal with CO2 laser fenestration: A retrospective cohort study
Published in Journal of cosmetic dermatology (01-06-2021)“…Background Epidermoid cyst (EC) is a common and benign tumor, which can occur anywhere on the skin. Surgical excision is usually considered as the first‐line…”
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Epidermoid cyst removal with CO 2 laser fenestration: A retrospective cohort study
Published in Journal of cosmetic dermatology (01-06-2021)“…Epidermoid cyst (EC) is a common and benign tumor, which can occur anywhere on the skin. Surgical excision is usually considered as the first-line treatment…”
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Gain-of-function mutation of a voltage-gated sodium channel NaV1.7 associated with peripheral pain and impaired limb development
Published in The Journal of biological chemistry (02-06-2017)“…Dominant mutations in voltage-gated sodium channel NaV1.7 cause inherited erythromelalgia, a debilitating pain disorder characterized by severe burning pain…”
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Gain-of-function mutation of a voltage-gated sodium channel Na V 1.7 associated with peripheral pain and impaired limb development
Published in The Journal of biological chemistry (02-06-2017)“…Dominant mutations in voltage-gated sodium channel Na 1.7 cause inherited erythromelalgia, a debilitating pain disorder characterized by severe burning pain…”
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