Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: PNPLA1[original query] |
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Genetic variance in the adiponutrin gene family and childhood obesity. PloS one 2009 4 (4): e5327. Johansson Lovisa E, Johansson Lina M, Danielsson Pernilla, Norgren Svante, Johansson Stina, Marcus Claude, Ridderstråle Mart |
Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population. Cancer biomarkers : section A of Disease markers 2017 Oct . Lu Nanhang, Wang Jinzeng, Zhu Bijun, Zhang Miaomiao, Qi Fazhi, Wang Xiangdong, Gu Jianyi |
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Human mutation 2018 7 39 (10): 1305-1313. Hotz Alrun, Bourrat Emmanuelle, Küsel Julia, Oji Vinzenz, Alter Svenja, Hake Lisanne, Korbi Mouna, Ott Hagen, Hausser Ingrid, Zimmer Andreas D, Fischer Judi |
Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs. Veterinary sciences 2018 5 5 (2): . Graziano Lisa, Vasconi Mauro, Cornegliani Lui |
ABHD5 stimulates PNPLA1-mediated ?-O-acylceramide biosynthesis essential for a functional skin permeability barrier. Journal of lipid research 2018 10 59 (12): 2360-2367. Kien Benedikt, Grond Susanne, Haemmerle Guenter, Lass Achim, Eichmann Thomas O, Radner Franz P |
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. Acta dermato-venereologica 2019 5 99 (10): 894-898. Esperón-Moldes Uxia, Ginarte Val Manuel, Rodríguez-Pazos Laura, Fachal Laura, Azaña José Manuel, Barberá Fons María, Viejo Diaz Mónica, Vega A |
[Analysis of PNPLA1 gene mutation in a child with ichthyosis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 9 37 (10): 1136-1138. Li Han, Qiao Lixi |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. Pediatric investigation 2020 8 4 (1): 51-54. Yang Zhou, Qi Zhan, Xu Zhe, Li Wei, Ma L |
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India. Pediatric dermatology 2022 4 39 (3): 420-424. Chiramel Minu Jose, Mathew Lydia, Athirayath Rekha, Chapla Aaron, Sathishkumar Dharshini, Mani Thenmozhi, Danda Sumita, George Re |
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients. Dermatology (Basel, Switzerland) 2024 4 . Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, May El Hach |
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- Page last updated:Apr 22, 2024
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