Literature DB >> 35042990

Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor.

Lorenzo Sinibaldi1,2, Alessia Micalizzi3, Annalisa Serra4, Alessandro Crocoli5, Francesca Diomedi Camassei6, Domenico Barbuti7, Maria Lisa Dentici8,9, Alessandra Terracciano3, Matteo Mattiuzzo3, Antonio Novelli3, Maria Cristina Digilio8,9.   

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Year:  2022        PMID： 35042990      PMCID： PMC8904488          DOI： 10.1038/s41431-021-01035-0

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  4 in total

1.  Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors.

Authors:  E Cristy Ruteshouser; Stephen M Robinson; Vicki Huff
Journal:  Genes Chromosomes Cancer       Date:  2008-06       Impact factor: 5.006

2.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

3.  VarSome: the human genomic variant search engine.

Authors:  Christos Kopanos; Vasilis Tsiolkas; Alexandros Kouris; Charles E Chapple; Monica Albarca Aguilera; Richard Meyer; Andreas Massouras
Journal:  Bioinformatics       Date:  2019-06-01       Impact factor: 6.937

4.  Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Authors:  Alicia Bach; Jingyi Mi; Matthew Hunter; Benjamin J Halliday; Sixto García-Miñaúr; Francesca Sperotto; Eva Trevisson; David Markie; Ian M Morison; Marwan Shinawi; Daniel N Willis; Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2020-09-02       Impact factor: 4.246
  4 in total

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