Search Results

There are 2539 results for: content related to: 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

  1. You have free access to this content
    Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3


    Volume 52, Issue 7, July 2011, Pages: e66–e69, Akihisa Okumura, Toshiyuki Yamamoto, Keiko Shimojima, Yoshinobu Honda, Shinpei Abe, Mitsuru Ikeno and Toshiaki Shimizu

    Article first published online : 21 JUN 2011, DOI: 10.1111/j.1528-1167.2011.03139.x

  2. Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 1020–1025, Shinichi Takatsuki, Rina Nakamura, Youichi Haga, Kazumasa Mitsui, Takuji Hashimoto, Keiko Shimojima, Tsutomu Saji and Toshiyuki Yamamoto

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33362

  3. Microdeletion 2q23.3q24.1: Exploring genotype-phenotype correlations

    Congenital Anomalies

    Volume 55, Issue 2, May 2015, Pages: 107–111, Donatella Milani, Caterina Sabatini, Francesca Maria Paola Manzoni, Paola Francesca Ajmone, Claudia Rigamonti, Michela Malacarne, Mauro Pierluigi, Simona Cavani and Maria Antonella Costantino

    Article first published online : 16 APR 2015, DOI: 10.1111/cga.12080

  4. You have free access to this content
    Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy


    Volume 51, Issue 12, December 2010, Pages: 2457–2460, Ana Cristina Victorino Krepischi, Jeroen Knijnenburg, Debora Romeo Bertola, Chong Ae Kim, Peter Lees Pearson, Emilia Bijlsma, Karoly Szuhai, Fernando Kok, Angela Maria Vianna-Morgante and Carla Rosenberg

    Article first published online : 30 SEP 2010, DOI: 10.1111/j.1528-1167.2010.02742.x

  5. A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 841–844, Lindsay C. Burrage, Tanya N. Eble, Patricia M. Hixson, Erin K. Roney, Sau W. Cheung and Luis M. Franco

    Article first published online : 26 FEB 2013, DOI: 10.1002/ajmg.a.35751

  6. Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1213–1224, Diana Mitter, Barbara Delle Chiaie, Hermann-Josef Lüdecke, Gabriele Gillessen-Kaesbach, Axel Bohring, Jürgen Kohlhase, Almuth Caliebe, Reiner Siebert, Albrecht Roepke, Maria A. Ramos-Arroyo, Beatriz Nieva, Björn Menten, Bart Loeys, Geert Mortier and Dagmar Wieczorek

    Article first published online : 13 APR 2010, DOI: 10.1002/ajmg.a.33344

  7. TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 828–833, Orazio Palumbo, Marco Fichera, Pietro Palumbo, Renata Rizzo, Elisabetta Mazzolla, Donatella Maria Cocuzza, Massimo Carella and Teresa Mattina

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36363

  8. Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1398–1410, Linda Siggberg, Sirpa Ala-Mello, Elisa Jaakkola, Esa Kuusinen, Robert Schuit, Jürgen Kohlhase, Detlef Böhm, Jaakko Ignatius and Sakari Knuutila

    Article first published online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33402

  9. You have free access to this content
    Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy


    Volume 53, Issue 12, December 2012, Pages: 2128–2134, Barbara Goeggel Simonetti, Claudine Rieubland, Carolina Courage, Susi Strozzi, Sibylle Tschumi, Sabina Gallati and Johannes R. Lemke

    Article first published online : 27 SEP 2012, DOI: 10.1111/j.1528-1167.2012.03676.x

  10. Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 191–195, M Bartnik, A Chun-Hui Tsai, Z Xia, SW Cheung and P Stankiewicz

    Article first published online : 2 AUG 2010, DOI: 10.1111/j.1399-0004.2010.01526.x

  11. MECP2 deletions and genotype–phenotype correlation in Rett syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 23, 1 December 2007, Pages: 2775–2784, Elisa Scala, Ilaria Longo, Federica Ottimo, Caterina Speciale, Katia Sampieri, Eleni Katzaki, Rosangela Artuso, Maria Antonietta Mencarelli, Tatiana D'Ambrogio, Giuseppina Vonella, Michele Zappella, Giuseppe Hayek, Agatino Battaglia, Francesca Mari, Alessandra Renieri and Francesca Ariani

    Article first published online : 29 OCT 2007, DOI: 10.1002/ajmg.a.32002

  12. Toward a developmental neurobiology of autism

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 10, Issue 4, November 2004, Pages: 303–317, Franck Polleux and Jean M. Lauder

    Article first published online : 21 JAN 2005, DOI: 10.1002/mrdd.20044

  13. An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1671–1673, Chiara Barone, Antonio Novelli, Anna Capalbo, Antonella Cataliotti del Grano, Maria Grazia Giuffrida, Lara Indaco and Sebastiano Bianca

    Article first published online : 9 APR 2015, DOI: 10.1002/ajmg.a.37054

  14. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

    Clinical Genetics

    Volume 77, Issue 4, April 2010, Pages: 404–407, JF Mazzeu, AM Vianna-Morgante, ACV Krepischi, A Oudakker, C Rosenberg, K Szuhai, J McGill, J MacCraughan, H Van Bokhoven and HG Brunner

    Article first published online : 20 JAN 2010, DOI: 10.1111/j.1399-0004.2009.01355.x

  15. Autistic and dysmorphic features associated with a submicroscopic 2q33.3–q34 interstitial deletion detected by array comparative genomic hybridization

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 4, 15 February 2008, Pages: 521–524, Duane T. Brandau, Molly Lund, Linda D. Cooley, Warren G. Sanger and Merlin G. Butler

    Article first published online : 17 JAN 2008, DOI: 10.1002/ajmg.a.32153

  16. Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1195–1199, Rossella Caselli, Maria Antonietta Mencarelli, Filomena Tiziana Papa, Francesca Ariani, Ilaria Longo, Ilaria Meloni, Giuseppina Vonella, Maurizio Acampa, Alberto Auteri, Stefano Vicari, Alessandra Orsi, Giuseppe Hayek, Alessandra Renieri and Francesca Mari

    Article first published online : 17 MAR 2008, DOI: 10.1002/ajmg.a.32197

  17. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1066–1078, Jonathan S. Berg, Lorraine Potocki and Carlos A. Bacino

    Article first published online : 7 APR 2010, DOI: 10.1002/ajmg.a.33185

  18. Genomic copy number alterations of primary and secondary metastasizing pleomorphic adenomas


    Fernanda Viviane Mariano, Rogério de Oliveira Gondak, Antonio Santos Martins, Ricardo Della Coletta, Oslei Paes de Almeida, Luiz Paulo Kowalski, Ana Cristina Victorino Krepischi and Albina Altemani

    Article first published online : 12 MAR 2015, DOI: 10.1111/his.12655

  19. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 1994–1998, Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, Eleni Katzaki, Katia Sampieri, Ilaria Meloni, Francesca Ariani, Ilaria Longo, Angela Maggio, Paolo Balestri, Salvatore Grosso, Maria Angela Farnetani, Rosario Berardi, Francesca Mari and Alessandra Renieri

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32413

  20. You have full text access to this OnlineOpen article
    De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

    American Journal of Medical Genetics Part A

    Michael J Parker, Alan E Fryer, Deborah J Shears, Katherine L Lachlan, Shane A McKee, Alex C Magee, Shehla Mohammed, Pradeep C Vasudevan, Soo-Mi Park, Valérie Benoit, Damien Lederer, Isabelle Maystadt, DDD study and David R FitzPatrick

    Article first published online : 15 JUN 2015, DOI: 10.1002/ajmg.a.37189