Literature DB >> 29168296

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

Francesca Pasutto1, Frances Flinter2, Anita Rauch3, André Reis1.   

Abstract

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Year:  2017        PMID: 29168296     DOI: 10.1002/ajmg.a.38529

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  Vitamin A homeostasis and cardiometabolic disease in humans: lost in translation?

Authors:  Aprajita S Yadav; Nina Isoherranen; Katya B Rubinow
Journal:  J Mol Endocrinol       Date:  2022-08-22       Impact factor: 4.869

2.  Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.

Authors:  Hairui Sun; Shaomei Yu; Xiaoxue Zhou; Lu Han; Hongjia Zhang; Yihua He
Journal:  Mol Genet Genomic Med       Date:  2020-06-29       Impact factor: 2.183

3.  STRA6 Polymorphisms Are Associated With EGFR Mutations in Locally-Advanced and Metastatic Non-Small Cell Lung Cancer Patients.

Authors:  Saé Muñiz-Hernández; Jesús Bernardino Velázquez-Fernández; José Díaz-Chávez; Omar Mondragón-Fonseca; Yerye Mayén-Lobo; Alberto Ortega; Marisol López-López; Oscar Arrieta
Journal:  Front Oncol       Date:  2020-11-24       Impact factor: 6.244

Review 4.  The Role of Vitamin A in Retinal Diseases.

Authors:  Jana Sajovic; Andrej Meglič; Damjan Glavač; Špela Markelj; Marko Hawlina; Ana Fakin
Journal:  Int J Mol Sci       Date:  2022-01-18       Impact factor: 5.923

Review 5.  Genetics and functions of the retinoic acid pathway, with special emphasis on the eye.

Authors:  Brian Thompson; Nicholas Katsanis; Nicholas Apostolopoulos; David C Thompson; Daniel W Nebert; Vasilis Vasiliou
Journal:  Hum Genomics       Date:  2019-12-03       Impact factor: 4.639

  5 in total

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