Sylvie Jaillard

ORCID: 0000-0002-0593-0261 · 2 papers in corpus

2023

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.

Human genetics ·doi:10.1007/s00439-023-02563-z

Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with other features such as sensorineura…

article 2013

Le pneumothorax cataménial : un diagnostic souvent méconnu

Revue de pneumologie clinique ·doi:10.1016/j.pneumo.2012.11.005

The catamenial pneumothorax (CP) is defined as recurrent pneumothorax occurring from the day before menstruations until 72 hours after their beginning, but remains a diagnostic and therapeutic problem. We herein report the cases of two youn…