Search Results - Annick Raas‐Rothschild

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  1. 1
    Mutations in NPHS2 Encoding Podocin Are a Prevalent Cause of Steroid-Resistant Nephrotic Syndrome among Israeli-Arab Children

    Mutations in NPHS2 Encoding Podocin Are a Prevalent Cause of Steroid-Resistant Nephrotic Syndrome among Israeli-Arab Children by Yaacov Frishberg, Choni Rinat, Orli Megged, Eli Shapira, Sofia Feinstein, Annick Raas‐Rothschild

    Published 2002
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  2. 2
    Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

    Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population by Ruth Bargal, Nili Avidan, Tzvia Olender, Edna Ben Asher, Marcia Zeigler, Annick Raas‐Rothschild, Ayala Frumkin, Omer Ben-Yoseph, Yechiel Friedlender, Doron Lancet, Gideon Bach

    Published 2001
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  3. 3
    Mutations in the mitochondrial glutamate carrier <i>SLC25A22</i> in neonatal epileptic encephalopathy with suppression bursts

    Mutations in the mitochondrial glutamate carrier <i>SLC25A22</i> in neonatal epileptic encephalopathy with suppression bursts by Florence Molinari, Anna Kaminśka, Giuseppe Fiermonte, Nathalie Boddaert, Annick Raas‐Rothschild, P. Plouin, Luigi Palmieri, F Brunelle, Ferdinando Palmieri, Olivier Dulac, A Munnich, Laurence Colleaux

    Published 2009
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  4. 4
    Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

    Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications by Ruth Bargal, Valérie Cormier‐Daire, Ziva Ben‐Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David Zangen, Sarah Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas‐Rothschild

    Published 2008
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  5. 5
    Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

    Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC) by Annick Raas‐Rothschild, Valérie Cormier‐Daire, Ming Bao, Emmanuelle Génin, Rémi Salomon, Kevin Brewer, Marsha Zeigler, Hanna Mandel, Steve Toth, Bruce A. Roe, Arnold Munnich, William M. Canfield

    Published 2000
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  6. 6
    Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

    Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy by Florence Molinari, Annick Raas‐Rothschild, Marlène Rio, Giuseppe Fiermonte, Férechté Encha‐Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben‐Neriah, Noman Kadhom, Michel Vekemans, Tania Attié‐Bitach, Arnold Münnich, Pierre Rustin, Laurence Colleaux

    Published 2005
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  7. 7
    Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

    Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C by Eyal Reinstein, Ana Gutiérrez‐Fernández, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas‐Rothschild, Dana Irge, Meytal Landau, Mordechai Shohat, Xosé S. Puente, Doron M. Behar, Carlos López‐Otín

    Published 2016
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  8. 8
    <i>PLS3</i> Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

    <i>PLS3</i> Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization by Anders Kämpe, Alice Costantini, Yael Levy‐Shraga, Leonid Zeitlin, Paul Roschger, Fulya Taylan, Anna Lindstrand, Eleftherios P. Paschalis, Sonja Gamsjaeger, Annick Raas‐Rothschild, M. Hövel, Hong Jiao, Klaus Klaushofer, Corinna Grasemann, Outi Mäkitie

    Published 2017
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  9. 9
    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature by Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild, Sebastian Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif B. Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Münnich, Tim M. Strom, André Reis, Laurence Colleaux

    Published 2011
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  10. 10
    Encephalopathy Caused by Ablation of Very Long Acyl Chain Ceramide Synthesis May Be Largely Due to Reduced Galactosylceramide Levels

    Encephalopathy Caused by Ablation of Very Long Acyl Chain Ceramide Synthesis May Be Largely Due to Reduced Galactosylceramide Levels by Oshrit Ben‐David, Yael Pewzner‐Jung, Ori Brenner, Elad L. Laviad, Aviram Kogot‐Levin, Itai Weissberg, Inbal Biton, Reut Pienik, Elaine Wang, Samuel Kelly, Joseph Alroy, Annick Raas‐Rothschild, Alon Friedman, Britta Brügger, Alfred H. Merrill, Anthony H. Futerman

    Published 2011
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  11. 11
    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia by Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T. Lu, Lisette Nevarez, Nurit Magal, Annick Raas‐Rothschild, Eric C. Swindell, Daniel H. Cohn, Richard A. Gibbs, Philippe M. Campeau, Mordechai Shohat, Brendan Lee

    Published 2017
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  12. 12
    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families by Lior Greenbaum, Ben Pode‐Shakked, Shlomit Eisenberg‐Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik‐Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli‐Avella, Peter Bauer, Miriam Regev, Annick Raas‐Rothschild, Elon Pras, Michal Berkenstadt

    Published 2019
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  13. 13
    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications by Andreas Janecke, Ruijuan Xu, Elisabeth Steichen‐Gersdorf, Siegfried Waldegger, Andreas Entenmann, Thomas Giner, Iris M. Krainer, Lukas A. Huber, Michael W. Hess, Yaacov Frishberg, Hila Barash, Shay Tzur, Nira Schreyer‐Shafir, Rivka Sukenik‐Halevy, Tania Zehavi, Annick Raas‐Rothschild, Cungui Mao, Thomas Müller

    Published 2017
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  14. 14
    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome)

    Phenotypic expansion of <i>POGZ</i>‐related intellectual disability syndrome (White‐Sutton syndrome) by Nurit Assia Batzir, Jennifer E. Posey, Xiaofei Song, Zeynep Coban‐Akdemir, Jill A. Rosenfeld, Chester Brown, Emily Chen, Shannon Holtrop, Elizabeth Mizerik, Margarita Nieto Moreno, Katelyn Payne, Annick Raas‐Rothschild, Richard H. Scott, Hilary J. Vernon, Neda Zadeh, James R. Lupski, V. Reid Sutton

    Published 2019
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  15. 15
    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... by Horacio Astudillo‐de la Vega, Alison H. Trainer, Miriam Gordillo, Moira Crosier, Hülya Kayserili, Flemming Skovby, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, E Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Raoul C. M. Hennekam, Ethylin Wang Jabs

    Published 2009
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  16. 16
    Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

    Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome by Nathalie Dagoneau, Déborah Scheffer, Céline Huber, L.I. Al-Gazali, Maja Di Rocco, Anne Godard, Jéléna Martinovic, Annick Raas‐Rothschild, Sabine Sigaudy, Sheila Unger, Sophie Nicole, Bertrand Fontaine, Jean‐Luc Taupin, Jean-François Moreau, Andrea Superti‐Furga, Martine Le Merrer, Jacky Bonaventure, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire

    Published 2004
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  17. 17
    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome by Deborah A. McDermott, Michael Bressan, Jié He, Joseph S. Lee, Salim Aftimos, Martina Brueckner, Fiona J. Gilbert, Gail E. Graham, Mark C. Hannibal, Jeffrey W. Innis, Mary Ella Pierpont, Annick Raas‐Rothschild, Alan Shanske, Wendy E. Smith, Robert H. Spencer, Martin G. St. John-Sutton, Lionel Van Maldergem, Darrel Waggoner, Matthew P. Weber, Craig T. Basson

    Published 2005
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  18. 18
    New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

    New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes by Sabiha Abekhoukh, H. Bahar Şahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas‐Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea C. Stachon, Steven W. Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Spruyt Peter, Isabel M. Smith, Montserrat Milà, Adam C. Smith, Angela Giangrande, Isabelle Caillé, Barbara Bardoni

    Published 2017
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  19. 19
    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity

    The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity by Miriam Gordillo, Hugo Vega, Alison H. Trainer, Fajian Hou, Norio Sakai, Ricardo Luque, Hülya Kayserili, Seher Başaran, Flemming Skovby, Raoul C. M. Hennekam, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, Susan Chang, Edward Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Roger A. Schultz, Lisa D. McDaniel, Keiichi Ozono, Koji Inui, Hui Zou, Ethylin Wang Jabs

    Published 2008
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  20. 20
    Myhre and LAPS syndromes: clinical and molecular review of 32 patients

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients by Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S. Brooks, Philippe M. Campeau, Anne Destrèe, Maja Di Rocco, Dian Donnai, Raoul C. M. Hennekam, Delphine Héron, Sébastien Jacquemont, Pekka Kannus, Angela E. Lin, Sylvie Manouvrier‐Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas‐Rothschild, Marlène Rio, Marleen Simon, Irene Stolte‐Dijkstra, James R. Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloès, Arnold Münnich, Valérie Cormier‐Daire

    Published 2014
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