Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein von Oliver, Guillermo, Dubourg, Christele, Jeong, Yongsu, Muenke, Maximilian, Geng, Xin, Li, Xue, Epstein, Douglas J, Yocum, Anastasia, Roessler, Erich, El-Jaick, Kenia, Leskow, Federico Coluccio

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A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers von Jeong, Yongsu, El-Jaick, Kenia, Roessler, Erich, Muenke, Maximilian, Epstein, Douglas J

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Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene int... von Roessler, Erich, Vélez, Jorge I., Zhou, Nan, Muenke, Maximilian

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Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly von Roessler, Erich, Ouspenskaia, Maia V., Karkera, Jayaprakash D., Vélez, Jorge I., Kantipong, Amy, Lacbawan, Felicitas, Bowers, Peter, Belmont, John W., Towbin, Jeffrey A., Goldmuntz, Elizabeth, Feldman, Benjamin, Muenke, Maximilian

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Loss-of-Function Mutations in the Human GLI2 Gene Are Associated with Pituitary Anomalies and Holoprosencephaly-like Features von Roessler, Erich, Du, Yang-Zhu, Mullor, Jose L., Casas, Esther, Allen, William P., Gillessen-Kaesbach, Gabriele, Roeder, Elizabeth R., Ming, Jeffrey E., Ariel Ruiz i Altaba, Muenke, Maximilian

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A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2 von Roessler, Erich, Ermilov, Alexandre N., Grange, Dorothy Katherine, Wang, Aiqin, Grachtchouk, Marina, Dlugosz, Andrzej A., Muenke, Maximilian

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Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos von Abe, Yu, Kruszka, Paul, Martinez, Ariel F., Roessler, Erich, Shiota, Kohei, Yamada, Shigehito, Muenke, Maximilian

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Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH von Pineda-Alvarez, Daniel E., Roessler, Erich, Hu, Ping, Srivastava, Kshitij, Solomon, Benjamin D., Siple, C. Evan, Fan, Chen-Ming, Muenke, Maximilian

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SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly von Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Martinez, Ariel F., Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian

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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans von Roessler, Erich, Ma, Yong, Ouspenskaia, Maia V., Lacbawan, Felicitas, Bendavid, Claude, Dubourg, Christèle, Beachy, Philip A., Muenke, Maximilian

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly von Gaudenz, Karin, Jay, Philippe, Berta, Philippe, Scherer, Stephen W, Belloni, Elena, Roessler, Erich, Tsui, Lap-Chee, Muenke, Maximilian

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Mutations in the human SIX3 gene in holoprosencephaly are loss of function von Domené, Sabina, Roessler, Erich, El-Jaick, Kenia B., Snir, Mirit, Brown, Jamie L., Vélez, Jorge I., Bale, Sherri, Lacbawan, Felicitas, Muenke, Maximilian, Feldman, Benjamin

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly von Muenke, Maximilian, Wallis, Deeann E, Roessler, Erich, Hehr, Ute, Nanni, Luisa, Wiltshire, Tim, Richieri-Costa, Antonio, Gillessen-Kaesbach, Gabriele, Zackai, Elaine H, Rommens, Johanna

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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly von Roessler, Erich, Pei, Wuhong, Ouspenskaia, Maia V., Karkera, Jayaprakash D., Veléz, Jorge Ivan, Banerjee-Basu, Sharmilla, Gibney, Gretchen, Lupo, Philip J., Mitchell, Laura E., Towbin, Jeffrey A., Bowers, Peter, Belmont, John W., Goldmuntz, Elizabeth, Baxevanis, Andreas D., Feldman, Benjamin, Muenke, Maximilian

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Midline and laterality defects: Left and right meet in the middle von Roessler, Erich, Muenke, Maximilian

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Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia von Schimmenti, Lisa A., de la Cruz, June, Lewis, Richard Alan, Karkera, J.D., Manligas, Glenda S., Roessler, Erich, Muenke, Maximilian

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Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly von Hong, Sungkook, Hu, Ping, Roessler, Erich, Hu, Tommy, Muenke, Maximilian

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Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly von Roessler, Erich, Hu, Ping, Hong, Sung-Kook, Srivastava, Kshitij, Carrington, Blake, Sood, Raman, Petrykowska, Hanna, Elnitski, Laura, Ribeiro, Lucilene A, Richieri-Costa, Antonio, Feldman, Benjamin, Odenwald, Ward F, Muenke, Maximilian

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Cover, Volume 41, Issue 12 von Nagai‐Tanima, Momoko, Hong, Sungkook, Hu, Ping, Carrington, Blake, Sood, Raman, Roessler, Erich, Muenke, Maximilian

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Low-level parental mosaicism affects the recurrence risk of holoprosencephaly von Hu, Ping, Martinez, Ariel F., Kruszka, Paul, Berger, Seth, Roessler, Erich, Muenke, Maximilian

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