Literature DB >> 12676923

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.

A Baumstark1, K M Lower, A Sinkus, I Andriuskeviciute, L Jurkeniene, J Gécz, W Just.   

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Year:  2003        PMID： 12676923      PMCID： PMC1735415          DOI： 10.1136/jmg.40.4.e50

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

Authors:  J Crawford; K M Lower; R C M Hennekam; H Van Esch; A Mégarbané; S A Lynch; G Turner; J Gécz
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

2.  PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.

Authors:  S Berland; K Alme; A Brendehaug; G Houge; R Hovland
Journal:  Mol Syndromol       Date:  2011-07-19

3.  Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.

Authors:  Zhonghua Liu; Fudong Li; Ke Ruan; Jiahai Zhang; Yide Mei; Jihui Wu; Yunyu Shi
Journal:  J Biol Chem       Date:  2014-02-19       Impact factor: 5.157

4.  The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

Authors:  Anja Ernst; Vang Q Le; Allan T Højland; Inge S Pedersen; Tine H Sørensen; Lise L Bjerregaard; Troels J B Lyngbye; Ninna M Gammelager; Henrik Krarup; Michael B Petersen
Journal:  Mol Syndromol       Date:  2015-09-29

Review 5.  PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.

Authors:  Matthew A M Todd; Danton Ivanochko; David J Picketts
Journal:  Genes (Basel)       Date:  2015-06-19       Impact factor: 4.096

6.  Proteomic Comparison of Malignant Human Germ Cell Tumor Cell Lines.

Authors:  Felix Bremmer; Hanibal Bohnenberger; Stefan Küffer; Thomas Oellerich; Hubert Serve; Henning Urlaub; Arne Strauss; Yasmine Maatoug; Carl Ludwig Behnes; Christoph Oing; Heinz Joachim Radzun; Philipp Ströbel; Stefan Balabanov; Friedemann Honecker
Journal:  Dis Markers       Date:  2019-09-03       Impact factor: 3.434

7.  A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Authors:  Xia Zhang; Yanjie Fan; Xiaomin Liu; Ming-Ang Zhu; Yu Sun; Hui Yan; Yunjuan He; Xiantao Ye; Xuefan Gu; Yongguo Yu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-01-11

8.  Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Authors:  Céline B Gerber; Anna Fliedner; Oliver Bartsch; Siren Berland; Malin Dewenter; Marte Haug; Ian Hayes; Purificacion Marin-Reina; Paul R Mark; Francisco Martinez-Castellano; Isabelle Maystadt; Deniz Karadurmus; Katharina Steindl; Antje Wiesener; Markus Zweier; Heinrich Sticht; Christiane Zweier
Journal:  Clin Genet       Date:  2022-06-14       Impact factor: 4.296

9.  Loss of PHF6 leads to aberrant development of human neuron-like cells.

Authors:  Anna Fliedner; Anne Gregor; Fulvia Ferrazzi; Arif B Ekici; Heinrich Sticht; Christiane Zweier
Journal:  Sci Rep       Date:  2020-11-04       Impact factor: 4.996
  9 in total

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