Search Results - "Zink, Alexander M."

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability by Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André

“…Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases…”
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment by Hempel, Maja, Cremer, Kirsten, Ockeloen, Charlotte W., Lichtenbelt, Klaske D., Herkert, Johanna C., Denecke, Jonas, Haack, Tobias B., Zink, Alexander M., Becker, Jessica, Wohlleber, Eva, Johannsen, Jessika, Alhaddad, Bader, Pfundt, Rolph, Fuchs, Sigrid, Wieczorek, Dagmar, Strom, Tim M., van Gassen, Koen L.I., Kleefstra, Tjitske, Kubisch, Christian, Engels, Hartmut, Lessel, Davor

“…CHAMP1 encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be…”
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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome by Kuechler, Alma, Zink, Alexander M, Wieland, Thomas, Lüdecke, Hermann-Josef, Cremer, Kirsten, Salviati, Leonardo, Magini, Pamela, Najafi, Kimia, Zweier, Christiane, Czeschik, Johanna Christina, Aretz, Stefan, Endele, Sabine, Tamburrino, Federica, Pinato, Claudia, Clementi, Maurizio, Gundlach, Jasmin, Maylahn, Carina, Mazzanti, Laura, Wohlleber, Eva, Schwarzmayr, Thomas, Kariminejad, Roxana, Schlessinger, Avner, Wieczorek, Dagmar, Strom, Tim M, Novarino, Gaia, Engels, Hartmut

“…Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases…”
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Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis by Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmüller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Nöthen, Markus M., Steinke, Verena, Perez‐Bouza, Alberto, Herms, Stefan, Holinski‐Feder, Elke, Fröhlich, Holger, Thiele, Holger, Hoffmann, Per, Aretz, Stefan

“…To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome‐wide analysis…”
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Loss-of-function variants in HIVEP2 are a cause of intellectual disability by Srivastava, Siddharth, Engels, Hartmut, Schanze, Ina, Cremer, Kirsten, Wieland, Thomas, Menzel, Moritz, Schubach, Max, Biskup, Saskia, Kreiß, Martina, Endele, Sabine, Strom, Tim M, Wieczorek, Dagmar, Zenker, Martin, Gupta, Siddharth, Cohen, Julie, Zink, Alexander M, Naidu, SakkuBai

“…Intellectual disability (ID) affects 2-3% of the population. In the past, many genetic causes of ID remained unidentified due to its vast heterogeneity…”
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study by Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

“…Summary Background The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about…”
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Protein expression profiling suggests relevance of noncanonical pathways in isolated pulmonary embolism by Ten Cate, Vincent, Prochaska, Jürgen H., Schulz, Andreas, Koeck, Thomas, Pallares Robles, Alejandro, Lenz, Michael, Eggebrecht, Lisa, Rapp, Steffen, Panova-Noeva, Marina, Ghofrani, H. Ardeschir, Meyer, F. Joachim, Espinola-Klein, Christine, Lackner, Karl J., Michal, Matthias, Schuster, Alexander K., Strauch, Konstantin, Zink, Alexander M., Laux, Volker, Heitmeier, Stefan, Konstantinides, Stavros V., Münzel, Thomas, Andrade-Navarro, Miguel A., Leineweber, Kirsten, Wild, Philipp S.

“…Patients with isolated pulmonary embolism (PE) have a distinct clinical profile from those with deep vein thrombosis (DVT)-associated PE, with more pulmonary…”
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Nine newly identified individuals refine the phenotype associated with MYT1L mutations by Windheuser, Isabelle C., Becker, Jessica, Cremer, Kirsten, Hundertmark, Hela, Yates, Laura M., Mangold, Elisabeth, Peters, Sophia, Degenhardt, Franziska, Ludwig, Kerstin U., Zink, Alexander M., Lessel, Davor, Bierhals, Tatjana, Herget, Theresia, Johannsen, Jessika, Denecke, Jonas, Wohlleber, Eva, Strom, Tim M., Wieczorek, Dagmar, Bertoli, Marta, Colombo, Roberto, Hempel, Maja, Engels, Hartmut

“…Both point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual…”
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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth by Schäfgen, Johanna, Cremer, Kirsten, Becker, Jessica, Wieland, Thomas, Zink, Alexander M, Kim, Sarah, Windheuser, Isabelle C, Kreiß, Martina, Aretz, Stefan, Strom, Tim M, Wieczorek, Dagmar, Engels, Hartmut

“…Recently, germline variants of the transcriptional co-regulator gene TCF20 have been implicated in the aetiology of autism spectrum disorders (ASD). However,…”
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Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions by Krutzke, Sophia K., Engels, Hartmut, Hofmann, Andrea, Schumann, Madita M., Cremer, Kirsten, Zink, Alexander M., Hilger, Alina, Ludwig, Michael, Gembruch, Ulrich, Reutter, Heiko, Merz, Waltraut M.

“…BACKGROUND For the majority of congenital brain malformations, the underlying cause remains unknown. Recent studies have implicated rare copy number variations…”
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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association by Hilger, Alina, Schramm, Charlotte, Pennimpede, Tracie, Wittler, Lars, Dworschak, Gabriel C, Bartels, Enrika, Engels, Hartmut, Zink, Alexander M, Degenhardt, Franziska, Müller, Annette M, Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Wijers, Charlotte H W, Marcelis, Carlo L M, van Rooij, Iris A L M, Hildebrandt, Friedhelm, Herrmann, Bernhard G, Nöthen, Markus M, Ludwig, Michael, Reutter, Heiko, Draaken, Markus

“…The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal…”
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De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations by Dennert, Nicola, Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Wohlleber, Eva, Albrecht, Beate, Ehret, Julia K., Lüdecke, Hermann‐Josef, Suri, Mohnish, Carignani, Giulia, Renieri, Alessandra, Kukuk, Guido M., Wieland, Thomas, Andrieux, Joris, Strom, Tim M., Wieczorek, Dagmar, Dieux‐Coëslier, Anne, Zink, Alexander M.

“…Loss‐of‐function mutations and deletions of the SOX2 gene are known to cause uni‐ and bilateral anophthalmia and microphthalmia as well as related disorders…”
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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement by Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb‐Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J., Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M., Hoffmann, Georg F., Mayr, Johannes A., Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean‐Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas

“…Objective Short‐chain enoyl‐CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and…”
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Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate by Klamt, Johanna, Hofmann, Andrea, Böhmer, Anne C., Hoebel, Ann-Kathrin, Gölz, Lina, Becker, Jessica, Zink, Alexander M., Draaken, Markus, Hemprich, Alexander, Scheer, Martin, Schmidt, Gül, Martini, Markus, Knapp, Michael, Mangold, Elisabeth, Degenhardt, Franziska, Ludwig, Kerstin U.

“…Background Nonsyndromic cleft with or without cleft palate (nsCL/P) is a common birth defect. Although genome‐wide association studies (GWAS) have identified…”
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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? by Ehret, Julia K, Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Zimmermann, Johannes P, Wohlleber, Eva, Grasshoff, Ute, Rossier, Eva, Bonin, Michael, Mangold, Elisabeth, Bevot, Andrea, Schön, Stefanie, Heilmann-Heimbach, Stefanie, Dennert, Nicola, Mathieu-Dramard, Michèle, Lacaze, Elodie, Plessis, Ghislaine, de Broca, Alain, Jedraszak, Guillaume, Röthlisberger, Benno, Miny, Peter, Filges, Isabel, Dufke, Andreas, Andrieux, Joris, Lee, Jennifer A, Zink, Alexander M

“…Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early…”
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De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation by Schramm, Charlotte, Draaken, Markus, Bartels, Enrika, Boemers, Thomas M., Schmiedeke, Eberhard, Grasshoff-Derr, Sabine, Märzheuser, Stefanie, Hosie, Stuart, Holland-Cunz, Stefan, Baudisch, Friederike, Priebe, Lutz, Hoffmann, Per, Zink, Alexander M., Engels, Hartmut, Brockschmidt, Felix F., Aretz, Stefan, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko

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A phenotype map for 14q32.3 terminal deletions by Engels, Hartmut, Schüler, Herdit M., Zink, Alexander M., Wohlleber, Eva, Brockschmidt, Antje, Hoischen, Alexander, Drechsler, Matthias, Lee, Jennifer A., Ludwig, Kerstin U., Kubisch, Christian, Schwanitz, Gesa, Weber, Ruthild G., Leube, Barbara, Hennekam, Raoul C. M., Rudnik-Schöneborn, Sabine, Kreiß-Nachtsheim, Martina, Reutter, Heiko

“…Detailed molecular‐cytogenetic studies combined with thorough clinical characterization are needed to establish genotype–phenotype correlations for specific…”
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Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation by Wohlleber, Eva, Kirchhoff, Maria, Zink, Alexander M, Kreiß-Nachtsheim, Martina, Küchler, Alma, Jepsen, Birgit, Kjaergaard, Susanne, Engels, Hartmut

“…Abstract Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language…”
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Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement by Haack, Tobias B., Jackson, Christopher B., Murayama, Kei, Kremer, Laura S., Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C., Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb‐Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J., Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M., Hoffmann, Georg F., Mayr, Johannes A., Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean‐Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas

“…Abstract Objective Short‐chain enoyl‐CoA hydratase ( ECHS 1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids…”
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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity by Witteveen, Josefine S, Willemsen, Marjolein H, Dombroski, Thaís C D, van Bakel, Nick H M, Nillesen, Willy M, van Hulten, Josephus A, Jansen, Eric J R, Verkaik, Dave, Veenstra-Knol, Hermine E, van Ravenswaaij-Arts, Conny M A, Wassink-Ruiter, Jolien S Klein, Vincent, Marie, David, Albert, Le Caignec, Cedric, Schieving, Jolanda, Gilissen, Christian, Foulds, Nicola, Rump, Patrick, Strom, Tim, Cremer, Kirsten, Zink, Alexander M, Engels, Hartmut, de Munnik, Sonja A, Visser, Jasper E, Brunner, Han G, Martens, Gerard J M, Pfundt, Rolph, Kleefstra, Tjitske, Kolk, Sharon M

“…Sharon Kolk, Tjitske Kleefstra and colleagues identify loss-of-function mutations in SIN3A in individuals with intellectual disability and other clinical…”
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