Search Results - "Ishorst, Nina"

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only by Ludwig, Kerstin U, Böhmer, Anne C, Bowes, John, Nikolic, Miloš, Ishorst, Nina, Wyatt, Niki, Hammond, Nigel L, Gölz, Lina, Thieme, Frederic, Barth, Sandra, Schuenke, Hannah, Klamt, Johanna, Spielmann, Malte, Aldhorae, Khalid, Rojas-Martinez, Augusto, Nöthen, Markus M, Rada-Iglesias, Alvaro, Dixon, Michael J, Knapp, Michael, Mangold, Elisabeth

“…Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present…”
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EZH2 specifically regulates ISL1 during embryonic urinary tract formation by Mingardo, Enrico, Kalanithy, Jeshurun C., Dworschak, Gabriel, Ishorst, Nina, Yilmaz, Öznur, Lindenberg, Tobias, Hollstein, Ronja, Felger, Tim, Angrand, Pierre-Olivier, Reutter, Heiko, Odermatt, Benjamin

“…Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of Isl1 from the genital mesenchyme in mice leads…”
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Deletions and loss-of-function variants in TP63 associated with orofacial clefting by Khandelwal, Kriti D, van den Boogaard, Marie-José H, Mehrem, Sarah L, Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A L M, Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C, Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U, Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E L, van Bokhoven, Hans

“…We aimed to identify novel deletions and variants of TP63 associated with orofacial clefting (OFC). Copy number variants were assessed in three OFC families…”
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Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate by Welzenbach, Julia, Hammond, Nigel L., Nikolić, Miloš, Thieme, Frederic, Ishorst, Nina, Leslie, Elizabeth J., Weinberg, Seth M., Beaty, Terri H., Marazita, Mary L., Mangold, Elisabeth, Knapp, Michael, Cotney, Justin, Rada-Iglesias, Alvaro, Dixon, Michael J., Ludwig, Kerstin U.

“…Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital facial malformation with a multifactorial etiology. Genome-wide…”
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Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations by Zieger, Hanna K., Weinhold, Leonie, Schmidt, Axel, Holtgrewe, Manuel, Juranek, Stefan A., Siewert, Anna, Scheer, Annika B., Thieme, Frederic, Mangold, Elisabeth, Ishorst, Nina, Brand, Fabian U., Welzenbach, Julia, Beule, Dieter, Paeschke, Katrin, Krawitz, Peter M., Ludwig, Kerstin U.

“…Non-syndromic cleft lip with/without cleft palate (nsCL/P) is a highly heritable facial disorder. To date, systematic investigations of the contribution of…”
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Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample by Ishorst, Nina, Francheschelli, Paola, Böhmer, Anne C., Khan, Mohammad Faisal J., Heilmann‐Heimbach, Stefanie, Fricker, Nadine, Little, Julian, Steegers‐Theunissen, Regine P.M., Peterlin, Borut, Nowak, Stefanie, Martini, Markus, Kruse, Teresa, Dunsche, Anton, Kreusch, Thomas, Gölz, Lina, Aldhorae, Khalid, Halboub, Esam, Reutter, Heiko, Mossey, Peter, Nöthen, Markus M., Rubini, Michele, Ludwig, Kerstin U., Knapp, Michael, Mangold, Elisabeth

“…Background Nonsyndromic cleft palate only (nsCPO) is a common and multifactorial form of orofacial clefting. In contrast to successes achieved for the other…”
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LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding by Ludwig, Kerstin U., Schmithausen, Ricarda M., Li, David, Jacobs, Max L., Hollstein, Ronja, Blumenstock, Katja, Liebing, Jana, Słabicki, Mikołaj, Ben-Shmuel, Amir, Israeli, Ofir, Weiss, Shay, Ebert, Thomas S., Paran, Nir, Rüdiger, Wibke, Wilbring, Gero, Feldman, David, Lippke, Bärbel, Ishorst, Nina, Hochfeld, Lara M., Beins, Eva C., Kaltheuner, Ines H., Schmitz, Maximilian, Wöhler, Aliona, Döhla, Manuel, Sib, Esther, Jentzsch, Marius, Moench, Eva-Maria C., Borrajo, Jacob D., Strecker, Jonathan, Reinhardt, Julia, Cleary, Brian, Geyer, Matthias, Hölzel, Michael, Macrae, Rhiannon, Nöthen, Markus M., Hoffmann, Per, Exner, Martin, Regev, Aviv, Zhang, Feng, Schmid-Burgk, Jonathan L.

“…Frequent testing of large population groups combined with contact tracing and isolation measures will be crucial for containing Coronavirus Disease 2019…”
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Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate by Mangold, Elisabeth, Böhmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gültepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Gölz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Gül, Jäger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Nöthen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba, Stanier, Philip, Knapp, Michael, Ludwig, Kerstin U.

“…Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A…”
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Extending the allelic spectrum at noncoding risk loci of orofacial clefting by Thieme, Frederic, Henschel, Leonie, Hammond, Nigel L., Ishorst, Nina, Hausen, Jonas, Adamson, Antony D., Biedermann, Angelika, Bowes, John, Zieger, Hanna K., Maj, Carlo, Kruse, Teresa, Buness, Andreas, Hoischen, Alexander, Gilissen, Christian, Kreusch, Thomas, Jäger, Andreas, Gölz, Lina, Braumann, Bert, Aldhorae, Khalid, Rojas‐Martinez, Augusto, Krawitz, Peter M., Mangold, Elisabeth, Dixon, Michael J., Ludwig, Kerstin U.

“…Genome‐wide association studies (GWAS) have generated unprecedented insights into the genetic etiology of orofacial clefting (OFC). The moderate effect sizes…”
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Author Correction: LAMP-Seq enables sensitive, multiplexed COVID-19 diagnostics using molecular barcoding by Ludwig, Kerstin U., Schmithausen, Ricarda M., Li, David, Jacobs, Max L., Hollstein, Ronja, Blumenstock, Katja, Liebing, Jana, Słabicki, Mikołaj, Ben-Shmuel, Amir, Israeli, Ofir, Weiss, Shay, Ebert, Thomas S., Paran, Nir, Rüdiger, Wibke, Wilbring, Gero, Feldman, David, Lippke, Bärbel, Ishorst, Nina, Hochfeld, Lara M., Beins, Eva C., Kaltheuner, Ines H., Schmitz, Maximilian, Wöhler, Aliona, Döhla, Manuel, Sib, Esther, Jentzsch, Marius, Moench, Eva-Maria C., Borrajo, Jacob D., Strecker, Jonathan, Reinhardt, Julia, Cleary, Brian, Geyer, Matthias, Hölzel, Michael, Macrae, Rhiannon, Nöthen, Markus M., Hoffmann, Per, Exner, Martin, Regev, Aviv, Zhang, Feng, Schmid-Burgk, Jonathan L.

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LAMP-Seq: Sensitive, Scalable, and Multiplexable COVID-19 Diagnostics Using Molecular Barcoding by Ludwig, Kerstin U., Schmithausen, Ricarda M., Li, David, Jacobs, Max L., Hollstein, Ronja, Blumenstock, Katja, Liebing, Jana, Słabicki, Mikołaj, Ben-Shmuel, Amir, Israeli, Ofir, Weiss, Shay, Ebert, Thomas S., Paran, Nir, Rüdiger, Wibke, Wilbring, Gero, Feldman, David, Lippke, Bärbel, Ishorst, Nina, Hochfeld, Lara M., Beins, Eva C., Kaltheuner, Ines H., Schmitz, Maximilian, Wöhler, Aliona, Döhla, Manuel, Sib, Esther, Jentzsch, Marius, Borrajo, Jacob D., Strecker, Jonathan, Reinhardt, Julia, Cleary, Brian, Geyer, Matthias, Hölzel, Michael, Macrae, Rhiannon, Nöthen, Markus M., Hoffmann, Per, Exner, Martin, Regev, Aviv, Zhang, Feng, Schmid-Burgk, Jonathan L.

“…Frequent testing of large population groups combined with contact tracing and isolation measures will be crucial for containing COVID-19 outbreaks. Here, we…”
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Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene by van Rooij, Iris Alm, Ludwig, Kerstin U, Welzenbach, Julia, Ishorst, Nina, Thonissen, Michelle, Galesloot, Tessel E, Ongkosuwito, Edwin, Bergé, Stefaan J, Aldhorae, Khalid, Rojas-Martinez, Augusto, Kiemeney, Lambertus Alm, Vermeesch, Joris Robert, Brunner, Han, Roeleveld, Nel, Devriendt, Koen, Dormaar, Titiaan, Hens, Greet, Knapp, Michael, Carels, Carine, Mangold, Elisabeth

“…Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background…”
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Wie ist die Weiterbildungssituation der NaturwissenschaftlerInnen in der Humangenetik in Deutschland, und wie erreichen wir eine staatliche Anerkennung der Weiterbildung zur/zum FachhumangenetikerIn? by Behrens, Yvonne Lisa, Hollstein, Ronja, Ishorst, Nina, Lischka, Annette, Sindermann, Lisa

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Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse‐Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene by Nanda, Arti, Pasternack, Sandra M., Mahmoudi, Hassnaa, Ishorst, Nina, Grimalt, Ramon, Betz, Regina C.

“…Woodhouse‐Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability,…”
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Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene by Nanda, Arti, Pasternack, Sandra M., Mahmoudi, Hassnaa, Ishorst, Nina, Grimalt, Ramon, Betz, Regina C.

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