Response to letter to the editor: ‘Gonadal tumour screening in XY gonadal dysgenesis’
Hannema, Sabine E., Wolffenbuttel, Katja P., Bever, Yolande, Bruggenwirth, Hennie T., Hersmus, Remko, Oosterhuis, J. Wolter, Looijenga, Leendert H. J.
Published in Clinical endocrinology (Oxford) (01.05.2024)
Published in Clinical endocrinology (Oxford) (01.05.2024)
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Journal Article
Undetectable anti‐Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis
Hannema, Sabine E., Wolffenbuttel, Katja P., Bever, Yolande, Brüggenwirth, Hennie T., Berg, Sjoerd A. A., Hersmus, Remko, Oosterhuis, J. Wolter, Looijenga, Leendert H. J.
Published in Clinical endocrinology (Oxford) (01.07.2023)
Published in Clinical endocrinology (Oxford) (01.07.2023)
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Journal Article
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
Douben, Hannie C. W., Nellist, Mark, Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, Veghel‐Plandsoen, Monique, Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., Vliet, Margreethe, Bever, Yolande, Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, Minkelen, Rick, Ierland, Yvette, Ham, Tjakko J.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
The biology of germ cell tumors in disorders of sex development
Hersmus, Remko, Bever, Yolande, Wolffenbuttel, Katja P., Biermann, Katharina, Cools, Martine, Looijenga, Leendert H.J.
Published in Clinical genetics (01.02.2017)
Published in Clinical genetics (01.02.2017)
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Journal Article
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes
Bever, Yolande, Groenenberg, Irene A. L., Knapen, Maarten F. C. M., Dessens, Arianne B., Hannema, Sabine E., Wolffenbuttel, Katja P., Diderich, Karin E. M., Hoefsloot, Lies H., Srebniak, Malgorzata I., Bruggenwirth, Hennie T.
Published in Prenatal diagnosis (01.02.2023)
Published in Prenatal diagnosis (01.02.2023)
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Journal Article
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Woerden, Geeske M., Senden, Richelle, Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., Bever, Yolande, Bird, Lynne M., Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, Wessels, Marja W., Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Journal Article
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, Slegtenhorst, Marjon A., Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2021)
Published in Acta obstetricia et gynecologica Scandinavica (01.06.2021)
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Journal Article
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
Bever, Yolande van, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E
Published in Journal of medical genetics (01.09.2020)
Published in Journal of medical genetics (01.09.2020)
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Journal Article
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
Sorokina, Elena A., Reis, Linda M., Thompson, Samuel, Agre, Katherine, Babovic-Vuksanovic, Dusica, Ellingson, Marissa S., Hasadsri, Linda, van Bever, Yolande, Semina, Elena V.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
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Journal Article
DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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Journal Article
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Beauregard-Lacroix, Eliane, Pacheco-Cuellar, Guillermo, Ajeawung, Norbert F., Tardif, Jessica, Dieterich, Klaus, Dabir, Tabib, Vind-Kezunovic, Dina, White, Susan M., Zadori, Denes, Castiglioni, Claudia, Tranebjærg, Lisbeth, Tørring, Pernille Mathiesen, Blair, Ed, Wisniewska, Marzena, Camurri, Maria Vittoria, van Bever, Yolande, Molidperee, Sirinart, Taylor, Juliet, Dionne-Laporte, Alexandre, Sisodiya, Sanjay M., Hennekam, Raoul C.M., Campeau, Philippe M.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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Journal Article
Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
Eleftheriadou, Maria, Medici‐ van den Herik, Evita, Stuurman, Kyra, Bever, Yolande, Hellebrekers, Debby M. E. I., Slegtenhorst, Marjon, Ruijter, George, Barakat, Tahsin Stefan
Published in Molecular genetics & genomic medicine (01.02.2021)
Published in Molecular genetics & genomic medicine (01.02.2021)
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Journal Article
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
Douben, Hannie, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Louwen, Jesse, Haan, Marian Kroos-de, Punt, Mattijs, van Ommeren, Babeth, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, van Bever, Yolande, van Vliet, Margreethe, Oostenbrink, Rianne, Saris, Jasper J., Wagner, Anja, van Ierland, Yvette, van Ham, Tjakko, van Minkelen, Rick
Published in Human mutation (15.02.2023)
Published in Human mutation (15.02.2023)
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Journal Article
Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature
van Bever, Yolande, Boers, Ruben G, Brüggenwirth, Hennie T, van IJcken, Wilfred Fj, Magielsen, Frank J, de Klein, Annelies, Boers, Joachim B, Looijenga, Leendert Hj, Brosens, Erwin, Gribnau, Joost, Hannema, Sabine E
Published in Epigenetics (01.12.2024)
Published in Epigenetics (01.12.2024)
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Journal Article
Omphalocele: from diagnosis to growth and development at 2 years of age
Hijkoop, Annelieke, Peters, Nina C J, Lechner, Rosan L, van Bever, Yolande, van Gils-Frijters, Annabel P J M, Tibboel, Dick, Wijnen, René M H, Cohen-Overbeek, Titia E, IJsselstijn, Hanneke
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.2019)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.01.2019)
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Journal Article
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia
Ten Kate, Chantal A, Brouwer, Rutger W W, van Bever, Yolande, Martens, Vera K, Brands, Tom, van Beelen, Nicole W G, Brooks, Alice S, Huigh, Daphne, van der Helm, Robert M, Eussen, Bert H F M M, van IJcken, Wilfred F J, IJsselstijn, Hanneke, Tibboel, Dick, Wijnen, Rene M H, de Klein, Annelies, Hofstra, Robert M W, Brosens, Erwin
Published in Birth defects research (15.05.2020)
Published in Birth defects research (15.05.2020)
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Journal Article
A low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
Kampen, Francoise S., Doornbos, Marianne E., Rijn, Monique A., Bever, Yolande
Published in Clinical case reports (01.02.2018)
Published in Clinical case reports (01.02.2018)
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Journal Article
Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias
van de Putte, Romy, Wijers, Charlotte H. W., de Blaauw, Ivo, Feitz, Wout F. J., Marcelis, Carlo L. M., Hakobjan, Marina, Sloots, Cornelius E. J., van Bever, Yolande, Brunner, Han G., Roeleveld, Nel, van Rooij, Iris A. L. M., van der Zanden, Loes F. M.
Published in European journal of pediatrics (01.05.2015)
Published in European journal of pediatrics (01.05.2015)
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Journal Article
Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia
Ten Kate, Chantal A, de Klein, Annelies, de Graaf, Bianca M, Doukas, Michail, Koivusalo, Antti, Pakarinen, Mikko P, van der Helm, Robert, Brands, Tom, IJsselstijn, Hanneke, van Bever, Yolande, Wijnen, René M H, Spaander, Manon C W, Brosens, Erwin
Published in Cancers (20.01.2022)
Published in Cancers (20.01.2022)
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Journal Article
Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology
Brosens, Erwin, Brouwer, Rutger W W, Douben, Hannie, van Bever, Yolande, Brooks, Alice S, Wijnen, Rene M H, van IJcken, Wilfred F J, Tibboel, Dick, Rottier, Robbert J, de Klein, Annelies
Published in Genes (10.10.2021)
Published in Genes (10.10.2021)
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