Search Results - "Duba, Christoph"

Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation by Csillag, Bernhard, Ilencikova, Denisa, Meissl, Manfred, Webersinke, Gerald, Laccone, Franco, Narumi, Satoshi, Haas, Oskar, Duba, Hans‐Christoph

“…MIRAGE syndrome caused by mutations in SAMD9 is associated with potential loss of chromosome 7 (‐7/7q‐) and an increased risk to develop myelodysplastic…”
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Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender by Ebner, Thomas, Tritscher, Katja, Mayer, Richard B., Oppelt, Peter, Duba, Hans-Christoph, Maurer, Maria, Schappacher-Tilp, Gudrun, Petek, Erwin, Shebl, Omar

“…Purpose Prolonged in vitro culture is thought to affect pre- and postnatal development of the embryo. This prospective study was set up to determine whether…”
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Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations by Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco

“…Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid aneuploidy…”
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Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability by Bernkopf, Marie, Webersinke, Gerald, Tongsook, Chanakan, Koyani, Chintan N, Rafiq, Muhammad A, Ayaz, Muhammad, Müller, Doris, Enzinger, Christian, Aslam, Muhammad, Naeem, Farooq, Schmidt, Kurt, Gruber, Karl, Speicher, Michael R, Malle, Ernst, Macheroux, Peter, Ayub, Muhammad, Vincent, John B, Windpassinger, Christian, Duba, Hans-Christoph

“…We describe the characterization of a gene for mild nonsyndromic autosomal recessive intellectual disability (ID) in two unrelated families, one from Austria,…”
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Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy by Kušíková, Katarína, Feichtinger, René Günther, Csillag, Bernhard, Kalev, Ognian Kostadinov, Weis, Serge, Duba, Hans-Christoph, Mayr, Johannes Adalbert, Weis, Denisa

“…Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The…”
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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype by Wade, Emma M., Jenkins, Zandra A., Daniel, Philip B., Morgan, Tim, Addor, Marie C., Adés, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae‐Joon, de Geus, Christa M., Duba, Hans‐Christoph, Fletcher, Elaine, Hadzsiev, Kinga, Hennekam, Raoul C. M., Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Sillence, David, Superti‐Furga, Andrea, Veenstra‐Knol, Hermine E., Wieczorek, Dagmar, Wilson, Louise C., Markie, David M., Robertson, Stephen P.

“…Frontometaphyseal dysplasia (FMD) is caused by gain‐of‐function mutations in the X‐linked gene FLNA in approximately 50% of patients. Recently we characterized…”
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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals by Garcia Segarra, Nuria, Mittaz, Laureane, Campos-Xavier, Ana Belinda, Bartels, Cynthia F., Tuysuz, Beyhan, Alanay, Yasemin, Cimaz, Rolando, Cormier-Daire, Valerie, Di Rocco, Maja, Duba, Hans-Christoph, Elcioglu, Nursel H., Forzano, Francesca, Hospach, Toni, Kilic, Esra, Kuemmerle-Deschner, Jasmin B., Mortier, Geert, Mrusek, Sonja, Nampoothiri, Sheela, Obersztyn, Ewa, Pauli, Richard M., Selicorni, Angelo, Tenconi, Romano, Unger, Sheila, Utine, G. Eda, Wright, Michael, Zabel, Bernhard, Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

“…Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non‐inflammatory arthropathy caused by recessive loss of function mutations in WISP3…”
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A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta by El-Gazzar, Ahmed, Mayr, Johannes A., Voraberger, Barbara, Brugger, Karin, Blouin, Stéphane, Tischlinger, Katharina, Duba, Hans-Christoph, Prokisch, Holger, Fratzl-Zelman, Nadja, Högler, Wolfgang

“…Osteogenesis imperfecta (OI) is an inherited genetic disorder characterized by frequent bone fractures and reduced bone mass. Most cases of OI are caused by…”
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Chromosomal Aneuploidies and Early Embryonic Developmental Arrest by Maurer, Maria, Ebner, Thomas, Puchner, Manuela, Mayer, Richard Bernhard, Shebl, Omar, Oppelt, Peter, Duba, Hans-Christoph

“…Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF)…”
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Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay by Malli, Theodora, Duba, Hans-Christoph, Erdel, Martin, Marschon, Renate, Kranewitter, Wolfgang, Deutschbauer, Sabine, Kralik, Johanna, Diel, Evita, Güenther, Barbara, Mueller, Doris, Webersinke, Gerald

“…Here, we report on a male patient with developmental delay, speech impairment, mild dysmorphic features, and borderline intellectual disability, bearing a de…”
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Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes by Obenauf, Anna C., Schwarzbraun, Thomas, Auer, Martina, Hoffmann, Eva M., Waldispuehl‐Geigl, Julie, Ulz, Peter, Günther, Barbara, Duba, Hans‐Christoph, Speicher, Michael R., Geigl, Jochen B.

“…The analysis of structural variants associated with specific phenotypic features is promising for the elucidation of the function of involved genes. There is,…”
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Combination of Cytology, Fluorescence In Situ Hybridization for Aneuploidy, and Reverse-Transcriptase Polymerase Chain Reaction for Human Mammaglobin/Mammaglobin B Expression Improves Diagnosis of Malignant Effusions by FIEGL, Michael, HAUN, Margot, GRÜNEWALD, Kurt, MASSONER, Anita, KRUGMANN, Jens, MÜLLER-HOLZNER, Elisabeth, HACK, Rene, HILBE, Wolfgang, MARTH, Christian, DUBA, Hans-Christoph, GASTL, Günther

“…The identification of malignant cells in effusions by conventional cytology is hampered by its limited sensitivity. The aim of this study was to improve tumor…”
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Labelling of human adipose-derived stem cells for non-invasive in vivo cell tracking by WOLBANK, Susanne, PETERBAUER, Anja, WASSERMANN, Esther, HENNERBICHLER, Simone, VOGLAUER, Regina, VAN GRIENSVEN, Martijn, DUBA, Hans-Christoph, GABRIEL, Christian, REDL, Heinz

“…Human adipose-derived stem cells (ASC) can be expanded in an undifferentiated state or differentiated along the osteogenic, chondrogenic, adipogenic, myogenic,…”
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Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature by Obermair, Florian, Rammer, Melanie, Burghofer, Jonathan, Malli, Theodora, Schossig, Anna, Wimmer, Katharina, Kranewitter, Wolfgang, Mayrbaeurl, Beate, Duba, Hans-Christoph, Webersinke, Gerald

“…Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular…”
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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia by Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.

“…Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is…”
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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring by Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M, Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A, Chung, Wendy K, Schieving, Jolanda H, Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans-Christoph, Weis, Denisa

“…-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease…”
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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations by Aldrian, Denise, Vogel, Georg F, Frey, Teresa K, Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Ester, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H, Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M, Hess, Michael W, Huber, Lukas A, Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R

“…Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic…”
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Prenatal Genetic Testing for Dopa-Responsive Dystonia - Clinical Judgment in the Context of Next Generation Sequencing by Nedelea, Florina, Veduta, Alina, Duta, Simona, Vayna, Ana-Maria, Panaitescu, Anca, Peltecu, Gheorghe, Duba, Hans-Christoph

“…We present a family in which the first child was diagnosed with dopa-responsive dystonia based on biochemical findings only. Dopa-responsive dystonia is a…”
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Fluorescence in situ hybridization (FISH) on peripheral blood smears for monitoring Philadelphia chromosome-positive chronic myeloid leukemia (CML) during interferon treatment: A new strategy for remission assessment by Mühlmann, Josef, Thaler, Josef, Hilbe, Wolfgang, Bechter, Oliver, Erdel, Martin, Utermann, Gerd, Duba, Hans-Christoph

“…Interferon‐α (IFN‐α) alone or in combination with cytostatic drugs can induce major and durable cytogenetic responses in about 20 to 25% of chronic myeloid…”
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FISH cytogenetics and prognosis in breast and non–small cell lung cancers by Massoner, Anita, Augustin, Florian, Duba, Hans‐Christoph, Zojer, Niklas, Fiegl, Michael

“…Background Interphase cytogenetics by fluorescence in situ hybridization (FISH) has been demonstrated to be a valuable diagnostic tool in effusions from…”
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