ESPE Abstracts Search

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Loss-Of-Function and Missense Mutations in MYRF are a Novel Cause of Autosomal Dominant 46,XY Leydig Cell Hypoplasia and 46,XY Gonadal Dysgenesis | ESPE2019
Ken McElreavey; Evgenia Globa; Rita Bertalan; Joelle Bignon-Topalovic; Raja Brauner; Anu Bashamboo
http://abstracts.eurospe.org/hrp/0092/hrp0092FC10.4
Published: 2019-08-22

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Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome | ESPE2019
Ken McElreavey; Anne Jorgensen; Caroline Eozenou; Tiphanie Merel; Joelle Bignon-Topalovic; Daisy Tan; Denis Houzelstein; Federic
http://abstracts.eurospe.org/hrp/0092/hrp0092FC10.3
Published: 2019-08-22

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Mutations Involving Nuclear Receptors and Their Cofactors as a Major Cause of 46,XX DSD | ESPE2018
Anu Bashamboo; Caroline Eozenou; Denis Houzelstein; Joelle Bignon-Topalovic; John Achermann; Ken McElreavey
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p215.htm
Published: 2018-08-28

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A Mutation in WT1 (Wilms' Tumor Suppressor 1) Associated with 46,XX TDSD | ESPE2016
Caroline Eozenou; Leila Fusee; Ines Mazen; Joelle Bignon-Topalovic; Ken McElreavey; Anu Bashamboo
http://abstracts.eurospe.org/hrp/0086/hrp0086rfc7.4.htm
Published: 2016-08-19

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MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis | ESPE2015
Birgit Kohler; Nicole Gehrmann; Annette Gruters-Kieslich; Joelle Bignon-Topalovic; Kenneth McElreavey; Anu Bashamboo
http://abstracts.eurospe.org/hrp/0084/hrp0084p2-308.htm
Published: 2015-08-26