Search Results - Armand Bottani

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  1. 1
    Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

    Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. by Michel Longy, Vincent Coulon, B. Duboué, A. David, M Larrègue, Charis Eng, Patrizia Amati, J.L. Kraimps, Armand Bottani, Didier Lacombe, Dominique Bonneau

    Published 1998
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  2. 2
    Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

    Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions by Cédric Howald, Giuseppe Merla, M. Cristina Digilio, Styliani Amenta, Robert Lyle, Samuel Deutsch, Urmila Choudhury, Armand Bottani, Stylianos E. Antonarakis, Helen Fryssira, Bruno Dallapiccola, Alexandre Reymond

    Published 2005
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  3. 3
    The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

    The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position... by Uppala Radhakrishna, Dorothea Bornholdt, Hamish S. Scott, Uday C. Patel, Colette Rossier, Hartmut Engel, Armand Bottani, Divya Chandal, Jean-Louis Blouin, J. V. Solanki, Karl‐Heinz Grzeschik, Stylianos E. Antonarakis

    Published 1999
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  4. 4
    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms by Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter L. Myers, A. Gélot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Isabelle Le Ber

    Published 2019
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  5. 5
    Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

    Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) by Christiane Zweier, Maarit Peippo, Juliane Hoyer, Sérgio B. Sousa, Armand Bottani, Jill Clayton‐Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koenraad Devriendt, Thomy de Ravel, Emilia K. Bijlsma, Raoul C. M. Hennekam, Alfredo Orrico, Monika Cohen, Alexander Dreweke, André Reis, Peter Nürnberg, Anita Rauch

    Published 2007
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  6. 6
    Nicolaides–Baraitser syndrome: Delineation of the phenotype

    Nicolaides–Baraitser syndrome: Delineation of the phenotype by Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani, Valérie Cormier‐Daire, Alan Fryer, Gabriele Gillessen‐Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice‐Picard, Elizabeth C. Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte‐Dijkstra, Alain Verloès, Emma Wakeling, Louise C. Wilson, Raoul C. M. Hennekam

    Published 2009
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  7. 7
    Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

    Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Sin... by Linda L. Bachinski, Bjarne Udd, G. Meola, Valeria Sansone, Guillaume Bassez, B. Eymard, Charles A. Thornton, Richard T. Moxley, Peter S. Harper, Mark T. Rogers, Karin Jurkat‐Rott, Frank Lehmann‐Horn, Thomas Wieser, Josep Gámez, Carmen Navarro, Armand Bottani, André Köhler, Mark D. Shriver, Riitta Sallinen, Maija Wessman, Shanxiang Zhang, Fred A. Wright, Ralf Krahe

    Published 2003
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  8. 8
    Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

    Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B by Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A. Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A. Morris, Małgorzata J.M. Nowaczyk, Helga V. Toriello, Michael J. Bamshad, John C. Carey, Eric Rappaport, Shimako Kawauchi, Arthur D. Lander, Anne L. Calof, Hui-hua Li, Marcella Devoto, Laird G. Jackson

    Published 2004
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  9. 9
    <i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

    <i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO by Martina Škopková, Friederike Hennig, Byung‐Sik Shin, Clesson Turner, Daniela Staníková, Katarína Brennerová, Juraj Staník, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky‐Silver, Armand Bottani, Tímea Kurdiová, Jozef Ukropec, Olga Nyitrayova, Miriam Kolníková, I Klimeś, Guntram Borck, Melanie Bahlo, Stefan A. Haas, Joo-Ran Kim, Leda E. Lotspeich-Cole, Daniela Gašperíková, Thomas Dever, Vera M. Kalscheuer

    Published 2017
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  10. 10
    Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

    Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 by Robert Lyle, Frédérique Béna, Sarantis Gagos, Corinne Gehrig, Gipsy Lopez, Albert Schinzel, James Lespinasse, Armand Bottani, Sophie Dahoun, Laurence Taine, Martine Doco‐Fenzy, Pascale Cornillet‐Lefèbvre, Anna Pelet, Stanislas Lyonnet, Annick Toutain, Laurence Colleaux, Jürgen Horst, Ingo Kennerknecht, Nobuaki Wakamatsu, Maria Descartes, Judy Franklin, L. Florentin-Arar, Sophia Kitsiou, Emilie Ait‐Yahya, Maher Costantine, Pierre‐Marie Sinet, Jean Maurice Delabar, Stylianos E. Antonarakis

    Published 2008
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  11. 11
    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

    Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders by Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi, Julie S. Cohen, Anna Chassevent, Júlia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joël Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith‐Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla S. Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane‐Yeboa

    Published 2021
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  12. 12
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature by Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Published 2013
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  13. 13
    Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

    Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome by Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Ming-Yang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M. Kroisel, Gianluca Tadini, Scott D. Walter, Fabian Hauck, Katta M. Girisha, Anne‐Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buneß, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl‐Heinz Grzeschik, Regina C. Betz, Zhimiao Lin

    Published 2020
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  14. 14
    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

    Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families by Periklis Makrythanasis, Mari Nelis, Federico Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia A. Temtamy, André Mégarbané, Amira Masri, Mona Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos A. Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou‐Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al‐Allawi, Abdelaziz Sefiani, Sana' A. S. Al Hait, Siham Chafai Elalaoui, Nadine Jalkh, Lihadh Al‐Gazali, Fatma Al‐Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, D.N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis

    Published 2014
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  15. 15
    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

    Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report by Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Samia A. Temtamy, G. Cara Romeo, Leo P. ten Kate, Robin L. Bennett, Alison Shaw, André Mégarbané, Cornelia M. van Duijn, Heli Bathija, Siv Fokstuen, Eric Engel, Joël Zlotogora, Emmanouil T. Dermitzakis, Armand Bottani, Sophie Dahoun, Michael A. Morris, Steve Arsenault, Mona Aglan, Mubasshir Ajaz, Ayad Alkalamchi, Dhekra Alnaqeb, Mohamed K. Alwasiyah, Nawfal Anwer, Rawan I. Awwad, Melissa Bonnefin, Michael Corry, Lorraine Gwanmesia, Gulshan Karbani, Maryam Mostafavi, Tommaso Pippucci, Emmanuelle Ranza-Boscardin, Bruno Reversade, Saghira Malik Sharif, Marieke Teeuw, A.H. Bittles

    Published 2011
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  16. 16
    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

    Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1 by M. Renaud, Maria-Céu Moreira, B. Monga, Diana Rodriguez, Rabab Debs, Perrine Charles, Malika Chaouch, Farida Ferrat, Chloé Laurencin, Laurent Vercueil, Martial Mallaret, M’zahem Abderrahim, Lamia Ali Pacha, Mériem Tazir, Caroline Tilikete, Elisabeth Ollagnon, François Ochsner, Thierry Küntzer, Hans H. Jung, Jean-Marie Beis, J C Netter, Atbin Djamshidian, Mattew Bower, Armand Bottani, Richard A. Walsh, Sinéad M. Murphy, Thomas Reiley, Éric Bieth, Filip Roelens, Bwee Tien Poll‐The, Charles Marques Lourenço, Laura Bannach Jardim, Rachel Straussberg, P. Landrieu, Emmanuel Roze, Stéphane Thobois, Jean Pouget, Claire Guissart, Cyril Goizet, Alexandra Dürr, Christine Tranchant, Michel Kœnig, Mathieu Anheim

    Published 2018
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  17. 17
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome by María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    Published 2011
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  18. 18
    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU by Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

    Published 2017
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  19. 19
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Published 2022
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  20. 20
    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus by Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Sergi Villatoro, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas

    Published 2011
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