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Associative mechanisms linking a defective minipuberty to the appearance of mental and nonmental disorders: infantile NO replenishment as a new therapeutic possibility

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Publications

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

Author(s): Stylianos E Antonarakis, Ales Holoubek, Melivoia Rapti, Jesse Rademaker, Jenny Meylan, Justyna Iwaszkiewicz, Vincent Zoete, Callum Wilson, Juliet Taylor, Muhammad Ansar, Christelle Borel, Olivier Menzel, Kateřina Kuželová, Federico A Santoni
Published in: Human Molecular Genetics, 2021, Page(s) in press, ISSN 0964-6906
Publisher: Oxford University Press
DOI: 10.1093/hmg/ddab026

The KiNG of reproduction: Kisspeptin/ nNOS interactions shaping hypothalamic GnRH release

Author(s): Virginia Delli, Mauro S.B. Silva, Vincent Prévot, Konstantina Chachlaki
Published in: Molecular and Cellular Endocrinology, Issue 532, 2021, Page(s) 111302, ISSN 0303-7207
Publisher: Elsevier BV
DOI: 10.1016/j.mce.2021.111302

Male minipuberty involves the gonad-independent activation of preoptic nNOS neurons

Author(s): Virginia Dellia Julien Dehame Delphine Franssen S.Rasika Anne-Simone Parent Vincent Prevot Konstantina Chachlaki
Published in: Free Radical Biology and Medicine, 2022, Page(s) ALL, ISSN 0891-5849
Publisher: Elsevier BV
DOI: 10.1016/j.freeradbiomed.2022.11.040

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

Author(s): Melivoia Rapti, Yassine Zouaghi, Jenny Meylan, Emmanuelle Ranza, Stylianos E Antonarakis, Federico A Santoni 
Published in: Briefings in Bioinformatics, 2019, ISSN 1467-5463
Publisher: Oxford University Press
DOI: 10.1093/bib/bbac049

NOS1 mutations in humans cause hypogonadotropic hypogonadism with sensory and intellectual comorbidities, reversible experimentally by NO treatment at minipuberty

Author(s): Konstantina Chachlaki, Andrea Messina Virginia Delli Valerie Leysen Csilla Maurnyi Chieko Huber Gaëtan Ternier Katalin Skrapits Georgios Papadakis Sonal Shruti Maria Kapanidou Xu Cheng James Acierno Jesse Rademaker Sowmyalakshmi Rasika Richard Quinton Marek Niedziela Dagmar L’allemand Duarte Pignatelli Mirjam Dirlewander Mariarosaria Lang-Muritano Patrick Kempf Sophie Catteau
Published in: Science Translational Medicine, Issue Vol. 14, 2022, Page(s) all, ISSN 1946-6234
Publisher: American Association for the Advancement of Science
DOI: 10.1126/scitranslmed.abh2369

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