Clinical utility gene card for: Axenfeld–Rieger syndrome

Por Weisschuh, Nicole, De Baere, Elfride, Wissinger, Bernd, Tümer, Zeynep
Publicado em 2011

Compositional biases and polyalanine runs in humans.

Por Cocquet, Julie, De Baere, Elfride, Caburet, Sandrine, Veitia, Reiner A
Publicado em 2003

Mother and daughter became father and son: a case report

Por Sajevets, Tatjana, Verroken, Charlotte, Heylens, Gunter, De Baere, Elfride, T'Sjoen, Guy
Publicado no Asian J Androl (2015)

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Por Désir, Julie, Coppieters, Frauke, Van Regemorter, Nicole, De Baere, Elfride, Abramowicz, Marc, Cordonnier, Monique
Publicado em 2012

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

Por Haghighi, Alireza, Verdin, Hannah, Haghighi-Kakhki, Hamidreza, Piri, Niloofar, Gohari, Nasrollah Saleh, De Baere, Elfride
Publicado em 2012

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional character...

Por Verdin, Hannah, Sorokina, Elena A, Meire, Françoise, Casteels, Ingele, de Ravel, Thomy, Semina, Elena V, De Baere, Elfride
Publicado em 2014

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

Por Meire, Françoise, Delpierre, Isabelle, Brachet, Cecile, Roulez, Françoise, Van Nechel, Christian, Depasse, Fanny, Christophe, Catherine, Menten, Björn, De Baere, Elfride
Publicado em 2011

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

Por Van Schil, Kristof, Karlstetter, Marcus, Aslanidis, Alexander, Dannhausen, Katharina, Azam, Maleeha, Qamar, Raheel, Leroy, Bart P., Depasse, Fanny, Langmann, Thomas, De Baere, Elfride
Publicado no Sci Rep (2016)

Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa

Por Coppieters, Frauke , Leroy, Bart P. , Beysen, Diane , Hellemans, Jan , De Bosscher, Karolien , Haegeman, Guy , Robberecht, Kirsten , Wuyts, Wim , Coucke, Paul J. , De Baere, Elfride 
Publicado em 2007

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Por 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
Publicado no Orphanet J Rare Dis (2014)

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Por 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
Publicado no Genet Med (2017)

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

Por Verdin, Hannah, D'haene, Barbara, Beysen, Diane, Novikova, Yana, Menten, Björn, Sante, Tom, Lapunzina, Pablo, Nevado, Julian, Carvalho, Claudia M. B., Lupski, James R., De Baere, Elfride
Publicado em 2013

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Por Van Cauwenbergh, Caroline, Van Schil, Kristof, Cannoodt, Robrecht, Bauwens, Miriam, Van Laethem, Thalia, De Jaegere, Sarah, Steyaert, Wouter, Sante, Tom, Menten, Björn, Leroy, Bart P., Coppieters, Frauke, De Baere, Elfride
Publicado no Genet Med (2017)

Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G)

Por Benayoun, Bérénice A., Caburet, Sandrine, Dipietromaria, Aurélie, Georges, Adrien, D'Haene, Barbara, Pandaranayaka, P. J. Eswari, L'Hôte, David, Todeschini, Anne-Laure, Krishnaswamy, Sankaran, Fellous, Marc, De Baere, Elfride, Veitia, Reiner A.
Publicado em 2010

Structural and numerical changes of chromosome X in patients with esophageal atresia

Por Brosens, Erwin, de Jong, Elisabeth M, Barakat, Tahsin Stefan, Eussen, Bert H, D'haene, Barbara, De Baere, Elfride, Verdin, Hannah, Poddighe, Pino J, Galjaard, Robert-Jan, Gribnau, Joost, Brooks, Alice S, Tibboel, Dick, de Klein, Annelies
Publicado em 2014

Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

Por Coppieters, Frauke, Todeschini, Anne Laure, Fujimaki, Takuro, Baert, Annelot, De Bruyne, Marieke, Van Cauwenbergh, Caroline, Verdin, Hannah, Bauwens, Miriam, Ongenaert, Maté, Kondo, Mineo, Meire, Françoise, Murakami, Akira, Veitia, Reiner A., Leroy, Bart P., De Baere, Elfride
Publicado no Hum Mutat (2015)

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Por Krawitz, Peter M., Murakami, Yoshiko, Hecht, Jochen, Krüger, Ulrike, Holder, Susan E., Mortier, Geert R., Delle Chiaie, Barbara, De Baere, Elfride, Thompson, Miles D., Roscioli, Tony, Kielbasa, Szymon, Kinoshita, Taroh, Mundlos, Stefan, Robinson, Peter N., Horn, Denise
Publicado em 2012

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Por Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P., De Baere, Elfride
Publicado no PLoS One (2017)

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Por Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd
Publicado em 2012

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

Por Astuti, Galuh D N, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W J, Koenekoop, Robert K
Publicado no Mol Genet Genomic Med (2015)