Literature DB >> 18541969

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome.

Raveen Shahdadpuri1, Anne O'Meara, Maureen O'Sullivan, William Reardon.   

Abstract

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Year:  2008        PMID: 18541969     DOI: 10.1097/MCD.0b013e3282f5f4e3

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


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  6 in total

1.  How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Authors:  Siddharth Banka; Ratna Veeramachaneni; William Reardon; Emma Howard; Sancha Bunstone; Nicola Ragge; Michael J Parker; Yanick J Crow; Bronwyn Kerr; Helen Kingston; Kay Metcalfe; Kate Chandler; Alex Magee; Fiona Stewart; Vivienne P M McConnell; Deirdre E Donnelly; Siren Berland; Gunnar Houge; Jenny E Morton; Christine Oley; Nicole Revencu; Soo-Mi Park; Sally J Davies; Andrew E Fry; Sally Ann Lynch; Harinder Gill; Susann Schweiger; Wayne W K Lam; John Tolmie; Shehla N Mohammed; Emma Hobson; Audrey Smith; Moira Blyth; Christopher Bennett; Pradeep C Vasudevan; Sixto García-Miñaúr; Alex Henderson; Judith Goodship; Michael J Wright; Richard Fisher; Richard Gibbons; Susan M Price; Deepthi C de Silva; I Karen Temple; Amanda L Collins; Katherine Lachlan; Frances Elmslie; Meriel McEntagart; Bruce Castle; Jill Clayton-Smith; Graeme C Black; Dian Donnai
Journal:  Eur J Hum Genet       Date:  2011-11-30       Impact factor: 4.246

2.  Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Authors:  Sietse M Aukema; Selina Glaser; Mari F C M van den Hout; Sonja Dahlum; Marinus J Blok; Morten Hillmer; Julia Kolarova; Raf Sciot; Dina A Schott; Reiner Siebert; Constance T R M Stumpel
Journal:  Fam Cancer       Date:  2022-07-19       Impact factor: 2.446

3.  Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Authors:  Chong Kun Cheon; Young Bae Sohn; Jung Min Ko; Yeoun Joo Lee; Ji Sun Song; Jea Woo Moon; Bo Kyoung Yang; Il Soo Ha; Eun Jung Bae; Hyun-Seok Jin; Seon-Yong Jeong
Journal:  J Hum Genet       Date:  2014-04-17       Impact factor: 3.172

Review 4.  The H3K27me3 demethylase UTX in normal development and disease.

Authors:  Joni Van der Meulen; Frank Speleman; Pieter Van Vlierberghe
Journal:  Epigenetics       Date:  2014-02-21       Impact factor: 4.528

5.  Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Authors:  Davide Roma; Paolo Palma; Rossella Capolino; Lorenzo Figà-Talamanca; Francesca Diomedi-Camassei; Francesca Romana Lepri; Maria Cristina Digilio; Carlo Efisio Marras; Raffaella Messina; Andrea Carai; Franco Randi; Angela Mastronuzzi
Journal:  BMC Med Genet       Date:  2015-09-05       Impact factor: 2.103

Review 6.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096

  6 in total

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