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There are 17680 results for: content related to: Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

  1. Intellectual disability and overgrowth—A new case of 19p13.13 microdeletion syndrome with digital abnormalities

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2839–2843, Rita Jorge, Carmen Silva, Sofia Águeda, Sofia Dória and Miguel Leão

    Version of Record online : 4 SEP 2015, DOI: 10.1002/ajmg.a.37280

  2. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 724–730, Keiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, Noriko Sangu, Shino Shimada and Toshiyuki Yamamoto

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36959

  3. Behavioral characteristics associated with 19p13.2 microdeletions

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2334–2343, Alice Welham, Bursharan Barth, Joanna Moss, Jessica Penhallow, Krupa Sheth, Lucy Wilde, Sarah Wynn and Chris Oliver

    Version of Record online : 16 JUL 2015, DOI: 10.1002/ajmg.a.37180

  4. Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1884–1889, Ratna N. G. B. Tan, Ruben S. G. M. Witlox, Yvonne Hilhorst-Hofstee, Cacha M. P. C. D. Peeters-Scholte, Nicolette S. den Hollander, Claudia A. L. Ruivenkamp, Mariëtte J.V. Hoffer, Kerstin B. Hansson, Mark J. van Roosmalen, Wigard P. Kloosterman and Gijs W. E. Santen

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.37076

  5. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1722–1725, Alexander G. Bassuk, Eileen Geraghty, Shu Wu, Saul A. Mullen, Samuel F. Berkovic, Ingrid E. Scheffer and Heather C. Mefford

    Version of Record online : 17 MAY 2013, DOI: 10.1002/ajmg.a.35946

  6. Clinical Comparison of Overlapping Deletions of 19p13.3

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1110–1116, Hiba Risheg, Romela Pasion, Stephanie Sacharow, Virginia Proud, LaDonna Immken, Stuart Schwartz, Jim H. Tepperberg, Peter Papenhausen, Tiong Y. Tan, Joris Andrieux, Ghislaine Plessis, David J. Amor and Elisabeth A. Keitges

    Version of Record online : 22 APR 2013, DOI: 10.1002/ajmg.a.35923

  7. Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2953–2963, Sirisha Peddibhotla, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance, Marilyn J. Bull, Dorothy K. Grange, Gunter H. Scharer, Sue-Hae L. Kang, Pawel Stankiewicz, Carlos A. Bacino, Sau W. Cheung and Ankita Patel

    Version of Record online : 2 OCT 2013, DOI: 10.1002/ajmg.a.35886

  8. Microdeletion 19p13.2 in an almost 5-year-old boy

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1190–1194, Edda Haberlandt, Ana Spreiz, Sara Baumgartner Sigl, Carolin Janetschek, Benno Röthlisberger, Sibylle Zotter, Kevin Rostasy, Johannes Zschocke and Dieter Kotzot

    Version of Record online : 9 APR 2012, DOI: 10.1002/ajmg.a.35291

  9. You have full text access to this OnlineOpen article
    Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12–p13.13 deletion

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 888–893, Giuseppe Marangi, Daniela Orteschi, Federico Vigevano, Jillian Felie, Christopher A. Walsh, M. Chiara Manzini and Giovanni Neri

    Version of Record online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35254

  10. Microdeletion of 19p13.3 in a girl with Peutz–Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 389–393, Yukiko Kuroda, Toshiyuki Saito, Jun-Ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno and Kenji Kurosawa

    Version of Record online : 8 DEC 2014, DOI: 10.1002/ajmg.a.36813

  11. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1614–1620, Carmen Orellana, Mónica Roselló, Sandra Monfort, Sonia Mayo, Silvestre Oltra and Francisco Martínez

    Version of Record online : 9 APR 2015, DOI: 10.1002/ajmg.a.37046

  12. A new case of syndromic craniosynostosis with cryptic 19p13.2–p13.13 deletion

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2564–2568, Philippe A. Lysy, Marie Ravoet, Sandrine Wustefeld, Pierre Bernard, Marie-Cécile Nassogne, Elisabeth Wyns and Catherine Sibille

    Version of Record online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33056

  13. De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1480–1486, Teresia Wangensteen, Lars Retterstøl, Olaug K. Rødningen, Jøran Hjelmesæth, Pål Aukrust and Bente Halvorsen

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35927

  14. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

    Clinical Genetics

    Volume 81, Issue 1, January 2012, Pages: 56–63, AM Lehman, C du Souich, D Chai, P Eydoux, JL Huang, AK Fok, L Avila, J Swingland, AD Delaney, B McGillivray, D Goldowitz, B Argiropoulos, MS Kobor and CF Boerkoel

    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1399-0004.2010.01615.x

  15. You have free access to this content
    Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms

    Epilepsia

    Volume 50, Issue 11, November 2009, Pages: 2501–2503, Stéphane Auvin, Muriel Holder-Espinasse, Marie-Dominique Lamblin and Joris Andrieux

    Version of Record online : 23 OCT 2009, DOI: 10.1111/j.1528-1167.2009.02189.x

  16. Pure duplication of 19p13.3

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2300–2304, Aki Ishikawa, Keisuke Enomoto, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Noritaka Furuya, Kentaro Ueno, Hideaki Ueda, Mitsuo Masuno and Kenji Kurosawa

    Version of Record online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36041

  17. Chromosome 19p13 loci in Finnish migraine with aura families

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 132B, Issue 1, 5 January 2005, Pages: 85–89, Mari A. Kaunisto, Päivi J. Tikka, Mikko Kallela, Suzanne M. Leal, Jeanette C. Papp, Arja Korhonen, Eija Hämäläinen, Hanna Harno, Hannele Havanka, Markku Nissilä, Erkki Säkö, Matti Ilmavirta, Jaakko Kaprio, Markus Färkkilä, Roel A. Ophoff, Aarno Palotie and Maija Wessman

    Version of Record online : 24 SEP 2004, DOI: 10.1002/ajmg.b.30082

  18. Currently recognized genes for schizophrenia: High-resolution chromosome ideogram representation

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 171, Issue 2, March 2016, Pages: 181–202, Merlin G. Butler, Austen B. McGuire, Humaira Masoud and Ann M. Manzardo

    Version of Record online : 13 OCT 2015, DOI: 10.1002/ajmg.b.32391

  19. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 38–44, H.L. Archer, S. Gupta, S. Enoch, P. Thompson, A. Rowbottom, I. Chua, S. Warren, D. Johnson, D.H. Ledbetter, C. Lese-Martin, P. Williams and D.T. Pilz

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.a.30774

  20. Reverse painting of microdissected chromosome 19 markers in ovarian carcinoma identifies a complex rearrangement map

    Genes, Chromosomes and Cancer

    Volume 48, Issue 2, February 2009, Pages: 184–193, Francesca Micci, Jörg Weimer, Lisbeth Haugom, Rolf I. Skotheim, Regina Grunewald, Vera M. Abeler, Ilvar Silins, Ragnhild A. Lothe, Claes G. Trope, Norbert Arnold and Sverre Heim

    Version of Record online : 30 OCT 2008, DOI: 10.1002/gcc.20628