American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Cover image for Vol. 157 Issue 4

Special Issue: Very Rare Defects: What Can We Learn?

15 November 2011

Volume 157, Issue 4

Pages 251–373

Issue edited by: Eduardo E. Castilla, Pierpaolo Mastroiacovo

  1. Editorial Comments

    1. Top of page
    2. Editorial Comments
    3. Introduction
    4. Articles
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  2. Introduction

    1. Top of page
    2. Editorial Comments
    3. Introduction
    4. Articles
    1. Very rare defects: What can we learn? (pages 252–261)

      Eduardo E. Castilla and Pierpaolo Mastroiacovo

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30315

  3. Articles

    1. Top of page
    2. Editorial Comments
    3. Introduction
    4. Articles
    1. Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research (pages 262–273)

      Lorenzo D. Botto, Marcia L. Feldkamp, Emmanuelle Amar, John C. Carey, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Hermien E.K. de Walle, Jane Halliday, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Lisa K. Marengo, María-Luisa Martínez-Frías, Paul Merlob, Margery Morgan, Leonora Luna Muñoz, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano and Pierpaolo Mastroiacovo

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30318

    2. Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research (pages 274–287)

      Osvaldo M. Mutchinick, Leonora Luna-Muñoz, Emmanuelle Amar, Marian K. Bakker, Maurizio Clementi, Guido Cocchi, Maria da Graça Dutra, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, Brian Lowry, Lisa K. Marengo, María-Luisa Martínez-Frías, Pierpaolo Mastroiacovo, Julia Métneki, Margery Morgan, Anna Pierini, Anke Rissman, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabova and Jazmín Arteaga-Vázquez

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30321

    3. Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature (pages 288–304)

      Eva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, Marian K. Bakker, Sebastiano Bianca, Fabrizio Bianchi, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Osvaldo M. Mutchinick, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabova and María-Luisa Martínez-Frías

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30319

    4. Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature (pages 305–320)

      Eva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, Sebastiano Bianca, Fabrizio Bianchi, Lorenzo D. Botto, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Osvaldo M. Mutchinick, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Elena Szabova and María-Luisa Martínez-Frías

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30320

    5. Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature (pages 321–332)

      Csaba Siffel, Adolfo Correa, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo-Sánchez, Sebastiano Bianca, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Melinda Csáky-Szunyogh, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Lisa K. Marengo, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Anna Pierini, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Elena Szabova and Richard S. Olney

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30316

    6. Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research (pages 333–343)

      Marcia L. Feldkamp, Lorenzo D. Botto, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo-Sánchez, Sebastiano Bianca, Mark A. Canfield, Eduardo E. Castilla, Maurizio Clementi, Melinda Csaky-Szunyogh, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Paul Merlob, Margery Morgan, Osvaldo M. Mutchinick, Anke Rissmann, Annukka Ritvanen, Csaba Siffel and John C. Carey

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30317

    7. Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research (pages 344–357)

      Iêda M. Orioli, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo-Sánchez, Fabrizio Bianchi, Mark A. Canfield, Maurizio Clementi, Adolfo Correa, Melinda Csáky-Szunyogh, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Anke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Elena Szabova and Eduardo E. Castilla

      Version of Record online: 17 OCT 2011 | DOI: 10.1002/ajmg.c.30323

    8. Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review (pages 358–373)

      Iêda M. Orioli, Emmanuelle Amar, Jazmin Arteaga-Vazquez, Marian K. Bakker, Sebastiano Bianca, Lorenzo D. Botto, Maurizio Clementi, Adolfo Correa, Melinda Csaky-Szunyogh, Emanuele Leoncini, Zhu Li, Jorge S. López-Camelo, R. Brian Lowry, Lisa Marengo, María-Luisa Martínez-Frías, Pierpaolo Mastroiacovo, Margery Morgan, Anna Pierini, Annukka Ritvanen, Gioacchino Scarano, Elena Szabova and Eduardo E. Castilla

      Version of Record online: 14 OCT 2011 | DOI: 10.1002/ajmg.c.30324

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