Søgeresultater - Alessandra Baumer

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  1. 1
    High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions

    High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions af Alessandra Baumer, Fabrizio Dutly, Damina Balmer, Mariluce Riegel, Turgut Tükel, Małgorzata Krajewska‐Walasek, Albert Schinzel

    Udgivet 1998
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  2. 2
    Novel Nox inhibitor VAS2870 attenuates PDGF-dependent smooth muscle cell chemotaxis, but not proliferation☆

    Novel Nox inhibitor VAS2870 attenuates PDGF-dependent smooth muscle cell chemotaxis, but not proliferation☆ af Henrik ten-Freyhaus, Michael Huntgeburth, Kirstin Wingler, J Schnitker, Alessandra Baumer, Marius Vantler, Mohamed M. Bekhite, Maria Wartenberg, Henning Sauer, Stephan Rosenkranz

    Udgivet 2006
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  3. 3
    Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

    Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes af Deborah Bartholdi, Małgorzata Krajewska‐Walasek, Katrin Õunap, H. Gaspar, Krystyńa Chrzańowska, H Ilyana, Hülya Kayserili, Iosif W. Lurie, Albert Schinzel, Alessandra Baumer

    Udgivet 2008
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  4. 4
    Dysregulation of Arachidonic Acid Metabolism Drives Inflammatory Lipid Production in Localized Provoked Vulvodynia

    Dysregulation of Arachidonic Acid Metabolism Drives Inflammatory Lipid Production in Localized Provoked Vulvodynia af Sarah Fischer, Oluwademilade Oladele, Zahra Mahamed, Emanuelle Chrysilla, Alessandra Baumer, Tamari Bekauri, Krishna Rao Maddipati, Tanzy Love, Mitchell Linder, Megan L. Falsetta

    Udgivet 2025
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  5. 5
    Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25–q31.1)” [Am J Med Genet Part A 152A:977–981]

    Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25–q31.1)” [Am J Med Genet Part A 152A:977–981] af Lília Maria de Azevedo Moreira, Albert Schinzel, Alessandra Baumer, P Enrique Pinto, Fátima Góes, Maria de Lourdes Lima Falcão, Ana Luiza N. H. Barbosa, Mariluce Riegel

    Udgivet 2010
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  6. 6
    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability af Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello‐Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch

    Udgivet 2013
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  7. 7
    Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications

    Long‐term follow‐up of four patients with langer–giedion syndrome: Clinical course and complications af Albert Schinzel, Mariluce Riegel, Alessandra Baumer, Andrea Superti‐Furga, Lília Maria de Azevedo Moreira, Layla D.E. Santo, Patricia P. Schiper, José Henrique Dantas Carvalho, A Giedion

    Udgivet 2013
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  8. 8
    Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)

    Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1) af Lília Maria de Azevedo Moreira, Albert Schinzel, Alessandra Baumer, Paula Sanders Pereira Pinto, Fátima Góes, Maria de Lourdes Lima Falcão, Ana Luiza N. H. Barbosa, Mariluce Riegel

    Udgivet 2010
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  9. 9
    APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

    APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex af Yutaka Shimomura, Dritan Agalliu, Alin Vonica, Victor Luria, Muhammad Wajid, Alessandra Baumer, Serena Belli, Lynn Petukhova, Albert Schinzel, Ali H. Brivanlou, Ben A. Barres, Angela M. Christiano

    Udgivet 2010
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  10. 10
    Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

    Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation af Elena Rossi, Mariluce Riegel, Jole Messa, Stefania Gimelli, P Maraschio, Roberto Ciccone, Michela Stroppi, Paola Riva, Concetta Simona Perrotta, Teresa Mattina, L. Memo, Alessandra Baumer, Vaidutis Kučinskas, Claudio Castellan, Albert Schinzel, Orsetta Zuffardi

    Udgivet 2007
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  11. 11
    Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

    Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) af Christian Templin, Jelena R. Ghadri, Jean‐Sébastien Rougier, Alessandra Baumer, V. A. Kaplan, Maxime Albesa, Heinrich Sticht, Anita Rauch, Chris Puleo, Dan Hu, Hector Barajas‐Martínez, Charles Antzelevitch, Thomas F. Lüscher, Hugues Abriel, Fırat Duru

    Udgivet 2011
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  12. 12
    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes af Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann‐Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch

    Udgivet 2019
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  13. 13
    Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

    Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex af M. T. Romano, Aylar Tafazzoli, Maximilian Mattern, Sugirthan Sivalingam, Sabrina Wolf, Alexander Rupp, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Jürgen Ellwanger, Reto Gambon, Alessandra Baumer, Nicolai Kohlschmidt, Dieter Metze, Stefan Holdenrieder, Ralf Paus, Dieter Lütjohann, Jorge Frank, Matthias Geyer, Marta Bertolini, P Kokordelis, Regina C. Betz

    Udgivet 2018
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  14. 14
    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons

    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons af Reza Asadollahi, Igor Delvendahl, Roman Muff, Ge Tan, Daymé González Rodríguez, Serap Turan, Marco Russo, Beatrice Oneda, Pascal Joset, Paranchai Boonsawat, Rahim Masood, Martina Mocera, Ivan Ivanovski, Alessandra Baumer, Ruxandra Bachmann‐Gagescu, Ralph Schlapbach, Hubert Rehrauer, Katharina Steindl, Anaïs Begemann, André Reis, Jürgen Winkler, Beate Winner, Martin Müller, Anita Rauch

    Udgivet 2023
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  15. 15
    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study af Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L. Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M. Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, T. Iff, Thomas Schmitt‐Mechelke, K. Otten, Annette Hackenberg, Marie‐Claude Addor, Andrea Klein, Silvia Azzarello‐Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauch

    Udgivet 2018
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  16. 16
    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations

    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations af Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi‐Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra, Arjan P.M. de Brouwer

    Udgivet 2014
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  17. 17
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies af Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer, Christian Gilissen, Sarah A. Graham, Sipko van Dam, Julie Hoover‐Fong, Aida Telegrafi, Anne Destrèe, Robert Śmigiel, Lindsday A. Lambie, Hülya Kayserili, Umut Altunoğlu, Elisabetta Lapi, Maria Luisa Giovannucci Uzielli, Mariana Aracena, Banu Nur, Ercan Mıhçı, Lília Maria de Azevedo Moreira, Viviane Borges Ferreira, Dafne Dain Gandelman Horovitz, Kátia M. Rocha, Aleksandra Jezela‐Stanek, Alice S. Brooks, Heiko Reutter, Julie S. Cohen, Ali Fatemi, Martin Smitka, Theresa A. Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaëlle André, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A. Veltman, Bert B.A. de Vries, Albert Schinzel, Simon E. Fisher, Alexander Hoischen, Bregje W.M. van Bon

    Udgivet 2017
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