Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder

by Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Delphine Mallet, Delphine Mallet, Nicolas Chatron, Nicolas Chatron, Nicolas Chatron, Frédérique Dijoud, Daniela Brindusa Gorduza, Daniela Brindusa Gorduza, Patricia Bretones, Patricia Bretones, Yves Morel, Yves Morel, Yves Morel
Published 2019-09-01

Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene

by Claire Goursaud, Delphine Mallet, Delphine Mallet, Alexandre Janin, Alexandre Janin, Alexandre Janin, Rita Menassa, Rita Menassa, Véronique Tardy-Guidollet, Véronique Tardy-Guidollet, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton, Yves Morel, Yves Morel, Yves Morel, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez
Published 2018-09-01

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

by Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez
Published 2019-06-01

Age- and Sex-Specific TSH Upper-Limit Reference Intervals in the General French Population: There Is a Need to Adjust Our Actual Practices

by Véronique Raverot, Maxime Bonjour, Juliette Abeillon du Payrat, Pauline Perrin, Florence Roucher-Boulez, Helene Lasolle, Fabien Subtil, Françoise Borson-Chazot
Published 2020-03-01