Literature DB >> 25914220

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Yukiko Kuroda1, Ikuko Ohashi1, Yumi Enomoto1, Takuya Naruto1, Naoko Baba2, Yukichi Tanaka3, Noriko Aida4, Nobuhiko Okamoto5, Tetsuya Niihori6, Yoko Aoki6, Kenji Kurosawa1.   

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Year:  2015        PMID： 25914220     DOI： 10.1002/ajmg.a.37135

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


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  7 in total

1.  Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.

Authors:  Reinhard E Friedrich; Martin Gosau; Andreas M Luebke; Christian Hagel; Felix K Kohlrusch; Michael Hahn; Simon VON Kroge; Jan Hahn; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2022 Jan-Feb       Impact factor: 2.155

2.  A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.

Authors:  Misako Nagatsuma; Kei Takasawa; Takeru Yamauchi; Ryuichi Nakagawa; Tomoko Mizuno; Eriko Tanaka; Kouhei Yamamoto; Noriko Uemura; Kenichi Kashimada; Tomohiro Morio
Journal:  J Hum Genet       Date:  2018-11-16       Impact factor: 3.172

3.  Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis.

Authors:  Michio Ozeki; Yoko Aoki; Akifumi Nozawa; Shiho Yasue; Saori Endo; Yumiko Hori; Kentaro Matsuoka; Tetsuya Niihori; Ryo Funayama; Matsuyuki Shirota; Keiko Nakayama; Toshiyuki Fukao
Journal:  Orphanet J Rare Dis       Date:  2019-09-11       Impact factor: 4.123

4.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

5.  Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.

Authors:  Chun Pan; Xiaowei Zhou; Anlan Hong; Fang Fang; Yan Wang
Journal:  BMC Med Genomics       Date:  2020-12-12       Impact factor: 3.063

6.  Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.

Authors:  Anthony J Penington; Ingrid E Scheffer; Michael S Hildebrand; Timothy E Green; Duncan MacGregor; Susan M Carden; Rebekah V Harris; Chelsee A Hewitt; Samuel F Berkovic
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09

7.  Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations: A case report and literature review.

Authors:  Jiang Lihua; Gao Feng; Mao Shanshan; Xu Jialu; Jiang Kewen
Journal:  Medicine (Baltimore)       Date:  2017-11       Impact factor: 1.817
  7 in total

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