Search Results

There are 11253 results for: content related to: Clinical Comparison of Overlapping Deletions of 19p13.3

  1. 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

  2. Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1105–1109, Manjunath Nimmakayalu, V. Kim Horton, Ben Darbro, Shivanand R. Patil, Hamza Alsayouf, Kim Keppler-Noreuil and Oleg A. Shchelochkov

    Version of Record online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35790

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  13. High-resolution 19p13.2–13.3 allelotyping of breast carcinomas demonstrates frequent loss of heterozygosity

    Genes, Chromosomes and Cancer

    Volume 41, Issue 3, November 2004, Pages: 250–256, Tseng-Long Yang, Yen-Rey Su, Chiun-Sheng Huang, Jyh-Cherng Yu, Yen-Li Lo, Pei-Ei Wu and Chen-Yang Shen

    Version of Record online : 11 AUG 2004, DOI: 10.1002/gcc.20080

  14. Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Version of Record online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  15. Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 46, Issue 5, May 2007, Pages: 478–486, Kerry E. Barber, Christine J. Harrison, Zoe J. Broadfield, Adam R. M. Stewart, Sarah L. Wright, Mary Martineau, Jon C. Strefford and Anthony V. Moorman

    Version of Record online : 20 FEB 2007, DOI: 10.1002/gcc.20431

  16. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  17. You have free access to this content
    The Human Obesity Gene Map: The 2005 Update

    Obesity

    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  18. Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P)

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 965–972, Azeez Butali, Satoshi Suzuki, Margaret E. Cooper, Adela M. Mansilla, Karen Cuenco, Elizabeth J. Leslie, Yasushi Suzuki, Teruyuki Niimi, Masahiko Yamamoto, Gongorjav Ayanga, Tudevdorj Erkhembaatar, Hiroo Furukawa, Kumiko Fujiwawa, Hideto Imura, Aline L. Petrin, Nagato Natsume, Terri H. Beaty, Mary L. Marazita and Jeffery C. Murray

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35749

  19. You have free access to this content
    The Human Obesity Gene Map: The 2003 Update

    Obesity Research

    Volume 12, Issue 3, March 2004, Pages: 369–439, Eric E. Snyder, Brandon Walts, Louis Pérusse, Yvon C. Chagnon, S. John Weisnagel, Tuomo Rankinen and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2004.47

  20. 11q23 balanced chromosome aberrations in treatment-related myelodysplastic syndromes and acute leukemia: Report from an International Workshop

    Genes, Chromosomes and Cancer

    Volume 33, Issue 4, April 2002, Pages: 362–378, Clara D. Bloomfield, Kellie J. Archer, Krzysztof Mrózek, Debra M. Lillington, Yasuhiko Kaneko, David R. Head, Paola Dal Cin and Susana C. Raimondi

    Version of Record online : 31 DEC 2001, DOI: 10.1002/gcc.10046