Literature DB >> 35102303

Mosaicism in PTEN-new case and comment on the literature.

Paula Rofes1,2, Álex Teulé1, Lídia Feliubadaló1,2, Mònica Salinas1, Raquel Cuesta1, Sílvia Iglesias1, Olga Campos1, Sara González1,2, Gabriel Capellá1,2, Joan Brunet1,2, Jesús Del Valle1,2, Conxi Lázaro3,4.   

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Year:  2022        PMID： 35102303      PMCID： PMC9177841          DOI： 10.1038/s41431-022-01052-7

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   5.351


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  5 in total

1.  A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

Authors:  Taylor L Mighell; Sara Evans-Dutson; Brian J O'Roak
Journal:  Am J Hum Genet       Date:  2018-04-26       Impact factor: 11.025

2.  Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

Authors:  X Zhou; H Hampel; H Thiele; R J Gorlin; R C Hennekam; M Parisi; R M Winter; C Eng
Journal:  Lancet       Date:  2001-07-21       Impact factor: 79.321

Review 3.  Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

Authors:  Robert Pilarski; Randall Burt; Wendy Kohlman; Lana Pho; Kristen M Shannon; Elizabeth Swisher
Journal:  J Natl Cancer Inst       Date:  2013-10-17       Impact factor: 13.506

4.  Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Authors:  Jessica L Mester; Rajarshi Ghosh; Tina Pesaran; Robert Huether; Rachid Karam; Kathleen S Hruska; Helio A Costa; Katherine Lachlan; Joanne Ngeow; Jill Barnholtz-Sloan; Kaitlin Sesock; Felicia Hernandez; Liying Zhang; Laura Milko; Sharon E Plon; Madhuri Hegde; Charis Eng
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

5.  Multiplex assessment of protein variant abundance by massively parallel sequencing.

Authors:  Kenneth A Matreyek; Lea M Starita; Jason J Stephany; Beth Martin; Melissa A Chiasson; Vanessa E Gray; Martin Kircher; Arineh Khechaduri; Jennifer N Dines; Ronald J Hause; Smita Bhatia; William E Evans; Mary V Relling; Wenjian Yang; Jay Shendure; Douglas M Fowler
Journal:  Nat Genet       Date:  2018-05-21       Impact factor: 38.330
  5 in total
  1 in total

1.  What's new in genetics in June 2022?

Authors:  Alisdair McNeill
Journal:  Eur J Hum Genet       Date:  2022-06       Impact factor: 5.351
  1 in total

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