A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation
Hersmus, Remko, van der Zwan, Yvonne G, Stoop, Hans, Bernard, Pascal, Sreenivasan, Rajini, Oosterhuis, J Wolter, Brüggenwirth, Hennie T, de Boer, Suzan, White, Stefan, Wolffenbuttel, Katja P, Alders, Marielle, McElreavy, Kenneth, Drop, Stenvert L S, Harley, Vincent R, Looijenga, Leendert H J
Published in PloS one (18.07.2012)
Published in PloS one (18.07.2012)
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New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing
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Published in Maturitas (01.11.2020)
Published in Maturitas (01.11.2020)
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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia
Jaillard, Sylvie, McElreavy, Kenneth, Robevska, Gorjana, Akloul, Linda, Ghieh, Farah, Sreenivasan, Rajini, Beaumont, Marion, Bashamboo, Anu, Bignon-Topalovic, Joelle, Neyroud, Anne-Sophie, Bell, Katrina, Veron-Gastard, Elisabeth, Launay, Erika, van den Bergen, Jocelyn, Nouyou, Bénédicte, Vialard, François, Belaud-Rotureau, Marc-Antoine, Ayers, Katie L, Odent, Sylvie, Ravel, Célia, Tucker, Elena J, Sinclair, Andrew H
Published in Molecular human reproduction (01.09.2020)
Published in Molecular human reproduction (01.09.2020)
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Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency
Pavlidou, Efterpi, Salpietro, Vincenzo, Phadke, Rahul, Hargreaves, Iain P, Batten, Leigh, McElreavy, Kenneth, Pitt, Matthew, Mankad, Kshitij, Wilson, Clare, Cutrupi, Maria Concetta, Ruggieri, Martino, McCormick, David, Saggar, Anand, Kinali, Maria
Published in European journal of paediatric neurology (01.05.2016)
Published in European journal of paediatric neurology (01.05.2016)
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Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2
Piard, Juliette, Mignot, Brigitte, Arbez-Gindre, Francine, Aubert, Didier, Morel, Yves, Roze, Virginie, McElreavy, Kenneth, Jonveaux, Philippe, Valduga, Mylène, Van Maldergem, Lionel
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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Journal Article
Severe sex differentiation disorder in a boy with a 3.8Mb 10q25.3-q26.12 microdeletion encompassing EMX2
Piard, Juliette, Mignot, Brigitte, Arbez-Gindre, Francine, Aubert, Didier, Morel, Yves, Roze, Virginie, McElreavy, Kenneth, Jonveaux, Philippe, Valduga, Mylène, Van Maldergem, Lionel
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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