Search Results - "Baetens, Dorien"

Update on the genetics of differences of sex development (DSD) by Baetens, Dorien, Verdin, Hannah, De Baere, Elfride, Cools, Martine

“…Human gonadal development is regulated by the temporospatial expression of many different genes with critical dosage effects. Subsequent sex steroid hormone…”
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Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development by Baetens, Dorien, Güran, Tülay, Mendonca, Berenice B., Gomes, Nathalia L., De Cauwer, Lode, Peelman, Frank, Verdin, Hannah, Vuylsteke, Marnik, Van der Linden, Malaïka, Stoop, Hans, Looijenga, Leendert H., De Bosscher, Karolien, Cools, Martine, De Baere, Elfride, Atay, Zeynep, Bereket, Abdullah, de Krijger, Ronald R., Preter, Katleen de, Domenice, Sorahia, Turan, Serap

“…Disorders or differences of sex development (DSDs) are rare congenital conditions characterized by atypical sex development. Despite advances in genomic…”
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Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development by Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine

“…One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up…”
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NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development by Baetens, Dorien, Stoop, Hans, Peelman, Frank, Todeschini, Anne-Laure, Rosseel, Toon, Coppieters, Frauke, Veitia, Reiner A., Looijenga, Leendert H.J., De Baere, Elfride, Cools, Martine

“…We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development…”
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