Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression (Q33587852)

28 July 2017

title

Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression (English)

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aromatase excess syndrome

28 July 2017

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Martin Wabitsch

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Kristy A Brown

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Tsutomu Ogata

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Henry Burger

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Akihiro Umezawa

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28 July 2017

Serdar E Bulun

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28 July 2017

Maki Fukami

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28 July 2017

Takayoshi Tsuchiya

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28 July 2017

Heike Vollbach

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28 July 2017

Shuji Abe

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28 July 2017

Shigeyuki Ohtsu

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28 July 2017

Evan R Simpson

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28 July 2017

Daizou Shihara

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28 July 2017

Kazuhiko Nakabayashi

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28 July 2017

Makio Shozu

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28 July 2017

language of work or name

English

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publication date

24 September 2013

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The Journal of Clinical Endocrinology and Metabolism

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

E2013-21

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

28 July 2017

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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Novel promoter I.8 and promoter usage in the CYP19 (aromatase) gene

28 July 2018

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28 July 2018

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28 July 2018

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Organization of the human aromatase p450 (CYP19) gene

28 July 2018

1 reference

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28 July 2018

1 reference

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Estrogen Excess Associated with Novel Gain-of-Function Mutations Affecting the Aromatase Gene

28 July 2018

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28 July 2018

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28 July 2018

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28 July 2018

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Replication-timing boundaries facilitate cell-type and species-specific regulation of a rearranged human chromosome in mouse

28 July 2018

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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

31 October 2018

1 reference

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Use of the aromatase inhibitor letrozole to treat male infertility.

31 October 2018

1 reference

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

31 October 2018

1 reference

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

31 October 2018

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Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.

31 October 2018

1 reference

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31 October 2018

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31 October 2018

Identifiers

DOI

10.1210/JC.2013-2520

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28 July 2017

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28 July 2017

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