Search Results - "STUMM, Markus"

Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder by Waltes, Regina, Kalb, Reinhard, Gatei, Magtouf, Kijas, Amanda W., Stumm, Markus, Sobeck, Alexandra, Wieland, Britta, Varon, Raymonda, Lerenthal, Yaniv, Lavin, Martin F., Schindler, Detlev, Dörk, Thilo

“…The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks (DSBs). Hypomorphic mutations in NBN (previously known…”
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Non-invasive prenatal screening tests – update 2022 by Kypri, Elena, Ioannides, Marios, Achilleos, Achilleas, Koumbaris, George, Patsalis, Philippos, Stumm, Markus

“…Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or…”
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The influence of low molecular weight heparin medication on plasma DNA in pregnant women by Grömminger, Sebastian, Erkan, Sanli, Schöck, Ulrike, Stangier, Kerstin, Bonnet, Joachim, Schloo, Rüdiger, Schubert, Angela, Prott, Eva-Christina, Knoll, Ute, Stumm, Markus, von Kalle, Christof, Hofmann, Wera

“…What's already known about this topic? Until today the fetal fraction in cell‐free maternal plasma DNA is the most critical determinant for a successful NIPT…”
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The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes by Weber, André, Liehr, Thomas, Al-Rikabi, Ahmed, Bilgen, Simal, Heinrich, Uwe, Schiller, Jenny, Stumm, Markus

“…Background: The majority of small supernumerary marker chromosomes (sSMCs) are derived from one single chromosome. Complex sSMCs instead consist of two to…”
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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification by Starke, Heike, Nietzel, Angela, Weise, Anja, Heller, Anita, Mrasek, Kristin, Belitz, Britta, Kelbova, Christine, Volleth, Marianne, Albrecht, Beate, Mitulla, Beate, Trappe, Ralf, Bartels, Iris, Adolph, Sabine, Dufke, Andreas, Singer, Sylke, Stumm, Markus, Wegner, Rolf-Dieter, Seidel, Jörg, Schmidt, Angela, Kuechler, Alma, Schreyer, Isolde, Claussen, Uwe, von Eggeling, Ferdinand, Liehr, Thomas

“…Small supernumerary marker chromosomes (SMCs) are present in about 0.05% of the human population. In approximately 30% of SMC carriers (excluding the…”
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Bassoon, a Novel Zinc-Finger CAG/Glutamine-Repeat Protein Selectively Localized at the Active Zone of Presynaptic Nerve Terminals by Dieck, Susanne tom, Sanmartí-Vila, Lydia, Langnaese, Kristina, Richter, Karin, Kindler, Stefan, Soyke, Antje, Wex, Heike, Smalla, Karl-Heinz, Kämpf, Udo, Fränzer, Jürgen-Theodor, Stumm, Markus, Garner, Craig C., Gundelfinger, Eckart D.

“…The molecular architecture of the cytomatrix of presynaptic nerve terminals is poorly understood. Here we show that Bassoon, a novel protein of >400,000 M r,…”
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MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest by Gavvovidis, Ioannis, Pöhlmann, Charlotte, Marchal, Juan Alberto, Stumm, Markus, Yamashita, Daisuke, Hirano, Tatsuya, Schindler, Detlev, Neitzel, Heidemarie, Trimborn, Marc

“…Mutations in the MCPH1 gene cause primary microcephaly associated with a unique cellular phenotype of misregulated chromosome condensation. The encoded protein…”
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Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum by STRUK, B, LI CAI, GOLDSMITH, L. A, VILJOEN, D, FIGUERA, L. E, FUCHS, W, MUNIER, F, RAMESAR, R, HOHL, D, RICHARDS, R, NELDNER, K. H, LINDPAINTNER, K, ZÄCH, S, WAN JI, CHUNG, J, LUMSDEN, A, STUMM, M, HUBER, M, SCHAEN, L, KIM, C.-A

“…We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited…”
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Intersexual Twins due to Tetragametic Chimerism by Wimmer, Rainer, Neumann, Uta, Weber, André, Isau, Melanie, Renner-Luetzkendorf, Heike, Zschieschang, Petra, Wachter, Oliver, Hirv, Kaimo, Stumm, Markus

“…Disorders of or differences in sexual development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomic sex are…”
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Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1 by van der Lelij, Petra, Chrzanowska, Krystyna H., Godthelp, Barbara C., Rooimans, Martin A., Oostra, Anneke B., Stumm, Markus, Zdzienicka, Małgorzata Z., Joenje, Hans, de Winter, Johan P.

“…The iron-sulfur-containing DNA helicases XPD, FANCJ, DDX11, and RTEL represent a small subclass of superfamily 2 helicases. XPD and FANCJ have been connected…”
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Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChIR1 by VAN DER LELIJ, Petra, CHRZANOWSKA, Krystyna H, GODTHELP, Barbara C, ROOIMANS, Martin A, OOSTRA, Anneke B, STUMM, Markus, ZDZIENICKA, Małgorzata Z, JOENJE, Hans, DE WINTER, Johan P

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Aktuelle und künftige pränatale genetische Analysemethoden – vom Chromosom zum Genom by Stumm, Markus, Isau, Melanie

“…Zusammenfassung Die zunehmende Integration der genetischen Diagnostik in die pränatale Medizin hat das Fachgebiet in den letzten Jahren maßgeblich verändert…”
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Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins by Grömminger, Sebastian, Yagmur, Erbil, Erkan, Sanli, Nagy, Sándor, Schöck, Ulrike, Bonnet, Joachim, Smerdka, Patricia, Ehrich, Mathias, Wegner, Rolf-Dieter, Hofmann, Wera, Stumm, Markus

“…Non-invasive prenatal testing (NIPT) by random massively parallel sequencing of maternal plasma DNA for multiple pregnancies is a promising new option for…”
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Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population by Becker, Rolf, Keller, Thomas, Wegner, Rolf-Dieter, Neitzel, Heidemarie, Stumm, Markus, Knoll, Ute, Stärk, Markus, Fangerau, Heiner, Bittles, Alan

“…Objective The aim of the present study was to assess the risk of major anomalies in the offspring of consanguineous couples, including data on the prenatal…”
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'Normal' nuchal translucency: a justification to refrain from detailed scan? Analysis of 6858 cases with special reference to ethical aspects by Becker, Rolf, Schmitz, Lothar, Kilavuz, Stefania, Stumm, Markus, Wegner, Rolf-Dieter, Bittner, Uta

“…ABSTRACT Objective To assess the prevalence and detection rate of major anomalies (MAs) by applying first trimester anomaly scan (FTAS) including first…”
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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe by Stumm, Markus, Entezami, Michael, Haug, Karsten, Blank, Cornelia, Wüstemann, Max, Schulze, Bernt, Raabe-Meyer, Gisela, Hempel, Maja, Schelling, Markus, Ostermayer, Eva, Langer-Freitag, Sabine, Burkhardt, Tilo, Zimmermann, Roland, Schleicher, Tina, Weil, Bernd, Schöck, Ulrike, Smerdka, Patricia, Grömminger, Sebastian, Kumar, Yadhu, Hofmann, Wera

“…ABSTRACT Objective The objective of this study is to validate the diagnostic accuracy of a non‐invasive prenatal test for detecting trisomies 13, 18, and 21…”
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DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency by O'Driscoll, Mark, Cerosaletti, Karen M., Girard, Pierre-M, Dai, Yan, Stumm, Markus, Kysela, Boris, Hirsch, Betsy, Gennery, Andrew, Palmer, Susan E., Seidel, Jörg, Gatti, Richard A., Varon, Raymonda, Oettinger, Marjorie A., Neitzel, Heidemarie, Jeggo, Penny A., Concannon, Patrick

“…DNA ligase IV functions in DNA nonhomologous end-joining and V(D)J recombination. Four patients with features including immunodeficiency and developmental and…”
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Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms by Stumm, Markus, Entezami, Michael, Trunk, Nastasja, Beck, Martina, Löcherbach, Julia, Wegner, Rolf-Dieter, Hagen, Andreas, Becker, Rolf, Hofmann, Wera

“…ABSTRACT Objective Here we describe the successful application of massively parallel sequencing for noninvasive prenatal detection of trisomy 21. In addition,…”
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Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany by Wegner, Rolf-Dieter, Stumm, Markus, Hofmann, Wera

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MCPH1 patient cells exhibit delayed release from DNA damage-induced G 2 /M checkpoint arrest by Gavvovidis, Ioannis, Pöhlmann, Charlotte, Marchal, Juan Alberto, Stumm, Markus, Yamashita, Daisuke, Hirano, Tatsuya, Schindler, Detlev, Neitzel, Heidemarie, Trimborn, Marc

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