The Co‐Occurrence of Tricho‐Rhino‐Phalangeal Syndrome and Early‐Onset Levodopa‐Sensitive Parkinsonism

Autor Hopfner, Franziska, Caliebe, Almuth, Deuschl, Günther, Schneider, Susanne A.
Vydáno v Mov Disord Clin Pract (2014)

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia and skeletal abnormalities: a novel phenotype

Autor Shah, Hitesh, Bens, Susanne, Caliebe, Almuth, Graham, John M., Girisha, Katta Mohan
Vydáno 2012

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a p...

Autor Frohnauer, Judith, Caliebe, Almuth, Gesk, Stefan, Partsch, Carl-Joachim, Siebert, Reiner, Pankau, Rainer, Jenderny, Jutta
Vydáno 2010

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10

Autor Weimer, Jörg, Heidemann, Simone, von Kaisenberg, Constantin S, Grote, Werner, Arnold, Norbert, Bens, Susanne, Caliebe, Almuth
Vydáno 2011

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

Autor Kanber, Deniz, Giltay, Jacques, Wieczorek, Dagmar, Zogel, Corinna, Hochstenbach, Ron, Caliebe, Almuth, Kuechler, Alma, Horsthemke, Bernhard, Buiting, Karin
Vydáno 2009

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

Autor Beygo, Jasmin, Ammerpohl, Ole, Gritzan, Daniela, Heitmann, Melanie, Rademacher, Katrin, Richter, Julia, Caliebe, Almuth, Siebert, Reiner, Horsthemke, Bernhard, Buiting, Karin
Vydáno 2013

Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

Autor Beygo, Jasmin, Ammerpohl, Ole, Gritzan, Daniela, Heitmann, Melanie, Rademacher, Katrin, Richter, Julia, Caliebe, Almuth, Siebert, Reiner, Horsthemke, Bernhard, Buiting, Karin
Vydáno 2013

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular kary...

Autor Eckmann-Scholz Christel, Gesk Stefan, Nagel Inga, Haake Andrea, Bens Susanne, Heidemann Simone, Kautza Monika, Timke Christian, Siebert Reiner, Caliebe Almuth
Vydáno 2010-09-01

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular kary...

Autor Eckmann-Scholz, Christel, Gesk, Stefan, Nagel, Inga, Haake, Andrea, Bens, Susanne, Heidemann, Simone, Kautza, Monika, Timke, Christian, Siebert, Reiner, Caliebe, Almuth
Vydáno 2010

DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples

Autor Eckmann-Scholz, Christel, Bens, Susanne, Kolarova, Julia, Schneppenheim, Sina, Caliebe, Almuth, Heidemann, Simone, von Kaisenberg, Constantin, Kautza, Monika, Jonat, Walter, Siebert, Reiner, Ammerpohl, Ole
Vydáno 2012

In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans

Autor Kolarova, Julia, Ammerpohl, Ole, Gutwein, Jana, Welzel, Maik, Baus, Inka, Riepe, Felix G., Eggermann, Thomas, Caliebe, Almuth, Holterhus, Paul-Martin, Siebert, Reiner, Bens, Susanne
Vydáno v PLoS One (2015)

A Giant Mammary Hamartoma in a Young Breast Cancer Patient

Autor Rumpf, Anna-Lena, Mathiak, Micaela, Schäfer, Fritz K., Caliebe, Almuth, Farrokh, Andre, Elessawy, Mohamed, Bauerschlag, Dirk O., Maass, Nicolai, van Mackelenbergh, Marion, Heilmann, Thorsten
Vydáno v Breast Care (Basel) (2021)

Frequency and characterization of DNA methylation defects in children born SGA

Autor Bens, Susanne, Haake, Andrea, Richter, Julia, Leohold, Judith, Kolarova, Julia, Vater, Inga, Riepe, Felix G, Buiting, Karin, Eggermann, Thomas, Gillessen-Kaesbach, Gabriele, Platzer, Konrad, Prawitt, Dirk, Caliebe, Almuth, Siebert, Reiner
Vydáno 2013

Mutations in CDK5RAP2 cause Seckel syndrome

Autor Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd
Vydáno v Mol Genet Genomic Med (2015)

DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs

Autor Hoff, Kirstin, Lemme, Marta, Kahlert, Anne-Karin, Runde, Kerstin, Audain, Enrique, Schuster, Dorit, Scheewe, Jens, Attmann, Tim, Pickardt, Thomas, Caliebe, Almuth, Siebert, Reiner, Kramer, Hans-Heiner, Milting, Hendrik, Hansen, Arne, Ammerpohl, Ole, Hitz, Marc-Phillip
Vydáno v Clin Epigenetics (2019)

Hematopoietic stem cell involvement in BCR-ABL1–positive ALL as a potential mechanism of resistance to blinatumomab therapy

Autor Nagel, Inga, Bartels, Marius, Duell, Johannes, Oberg, Hans-Heinrich, Ussat, Sandra, Bruckmueller, Henrike, Ottmann, Oliver, Pfeifer, Heike, Trautmann, Heiko, Gökbuget, Nicola, Caliebe, Almuth, Kabelitz, Dieter, Kneba, Michael, Horst, Heinz-August, Hoelzer, Dieter, Topp, Max S., Cascorbi, Ingolf, Siebert, Reiner, Brüggemann, Monika
Vydáno v Blood (2017)

Antiviral and regulatory T cell immunity in a patient with STIM1 deficiency()

Autor Fuchs, Sebastian, Rensing-Ehl, Anne, Speckmann, Carsten, Bengsch, Bertram, Schmitt-Graeff, Annette, Bondzio, Ilka, Maul-Pavicic, Andrea, Bass, Thilo, Vraetz, Thomas, Strahm, Brigitte, Ankermann, Tobias, Benson, Melina, Caliebe, Almuth, Fölster-Holst, Regina, Kaiser, Petra, Thimme, Robert, Schamel, Wolfgang W., Schwarz, Klaus, Feske, Stefan, Ehl, Stephan
Vydáno 2011

Structural genomic variation in childhood epilepsies with complex phenotypes

Autor Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, Koeleman, Bobby PC
Vydáno 2014

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Autor Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan
Vydáno v Am J Hum Genet (2014)

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

Autor De Franco, Elisa, Watson, Rachel A., Weninger, Wolfgang J., Wong, Chi C., Flanagan, Sarah E., Caswell, Richard, Green, Angela, Tudor, Catherine, Lelliott, Christopher J., Geyer, Stefan H., Maurer-Gesek, Barbara, Reissig, Lukas F., Lango Allen, Hana, Caliebe, Almuth, Siebert, Reiner, Holterhus, Paul Martin, Deeb, Asma, Prin, Fabrice, Hilbrands, Robert, Heimberg, Harry, Ellard, Sian, Hattersley, Andrew T., Barroso, Inês
Vydáno v Am J Hum Genet (2019)