Ghent University Academic Bibliography

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Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cecile Brachet, Alexander Laemmle, Martine Cools (UGent) , Kay-Sara Sauter, Elfride De Baere (UGent) , Arnaud Vanlander (UGent) , Amit V. Pandey, Therina Du Toit, Clarissa D. Voegel, Claudine Heinrichs, et al.

(2024) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 97(Supplement 3). p.61-61
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Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cécile Brachet, Alexander Laemmle, Martine Cools (UGent) , Kay-Sara Sauter, Elfride De Baere (UGent) , Arnaud Vanlander (UGent) , Amit V Pandey, Therina du Toit, Clarissa D Voegel, Claudine Heinrichs, et al.

(2024) EUROPEAN JOURNAL OF ENDOCRINOLOGY. 191(2). p.144-155
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Etiology, histology and long-term outcome of bilateral testicular regression : a large Belgian series

Lloyd Tack (UGent) , Cecile Brachet, Veronique Beauloye, Claudine Heinrichs, E Boros, Kathleen De Waele (UGent) , Saskia van der Straaten (UGent) , Sara Van Aken (UGent) , Annelies Lemay, Anne Rochtus, et al.

(2023) HUMAN REPRODUCTION OPEN. 2023(4).
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Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development

Hannes Syryn (UGent) , Hannah Verdin (UGent) , Julie Van De Velde (UGent) , Marianne Becker, Cécile Brachet, Marieke Den Brinker, Sylvia Depoorter, Julie Fudvoye, Daniel Klink, Philippe Lysy, et al.

(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.382-383
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Efficacy and safety of a 4-year combination therapy of growth hormone and gonadotropin-releasing hormone analogue in pubertal girls with short predicted adult height

Hilde Dotremont, Annick France, Claudine Heinrichs, Sylvie Tenoutasse, Cécile Brachet, Martine Cools (UGent) , Kathleen De Waele (UGent) , Guy Massa, Marie-Christine Lebrethon, Inge Gies, et al.

(2023) FRONTIERS IN ENDOCRINOLOGY. 14.
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Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Frauke Coppieters (UGent) , Giulia Ascari (UGent) , Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman (UGent) , Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K Tsilimbaris, et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(2). p.470-480
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Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

Françoise Meire (UGent) , Isabelle Delpierre, Cecile Brachet, Françoise Roulez, Chrisitan Van Nechel, Fanny Depasse, Catherine Christophe, Björn Menten (UGent) and Elfride De Baere (UGent)

(2011) MOLECULAR VISION. 17(225-26). p.2072-2079

Academic Bibliography

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Etiology, histology and long-term outcome of bilateral testicular regression : a large Belgian series

Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development

Efficacy and safety of a 4-year combination therapy of growth hormone and gonadotropin-releasing hormone analogue in pubertal girls with short predicted adult height

Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

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