Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX ChildrenAnu Bashamboo, Ken McElreavey, Caroline Eozénou et al.|The American Journal of Human Genetics|2018Cited by 104
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anu Bashamboo, Anne Jørgensen et al.|Genetics in Medicine|2019Cited by 69
Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndromeAntoine Tabarin, Jérôme Bertherat, Philippe Chanson et al.|Annales d Endocrinologie|2022Cited by 62
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?Laurence Dumeige, Lætitia Martinerie, Livie Chatelais et al.|European Journal of Endocrinology|2018Cited by 56
<i>SRY</i>‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axisSophie Lambert, Lætitia Martinerie, Matthieu Peycelon et al.|Clinical Endocrinology|2020Cited by 46