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There are 4774 results for: content related to: Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

  1. Monosomy 1p36 deletion syndrome

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

    Volume 145C, Issue 4, 15 November 2007, Pages: 346–356, Marzena Gajecka, Katherine L. Mackay and Lisa G. Shaffer

    Version of Record online : 5 OCT 2007, DOI: 10.1002/ajmg.c.30154

  2. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2493–2500, Anne-Claire Bursztejn, Myriam Bronner, Sylviane Peudenier, Marie-José Grégoire, Philippe Jonveaux and Christophe Nemos

    Version of Record online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33051

  3. Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36

    Prenatal Diagnosis

    Volume 27, Issue 9, September 2007, Pages: 874–878, D. Lissauer, S. A. Larkins, S. Sharif, L. MacPherson, C. Rhodes and M. D. Kilby

    Version of Record online : 20 JUN 2007, DOI: 10.1002/pd.1796

  4. Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 23, 1 December 2008, Pages: 3062–3069, Philippe M. Campeau, Nicholas Ah Mew, Lola Cartier, Katherine L. Mackay, Lisa G. Shaffer, Vazken M. Der Kaloustian and Mary Ann Thomas

    Version of Record online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32563

  5. Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 22, 15 November 2008, Pages: 2891–2897, Shoji Saito, Rie Kawamura, Tomoki Kosho, Takashi Shimizu, Koki Aoyama, Kenichi Koike, Takahito Wada, Naomichi Matsumoto, Mitsuhiro Kato, Keiko Wakui and Yoshimitsu Fukushima

    Version of Record online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32556

  6. 1p36 deletion syndrome associated with Prader–Willi-like phenotype

    Pediatrics International

    Volume 52, Issue 4, August 2010, Pages: 547–550, Yu Tsuyusaki, Hiroshi Yoshihashi, Noritaka Furuya, Masanori Adachi, Hitoshi Osaka, Kayono Yamamoto and Kenji Kurosawa

    Version of Record online : 26 JAN 2010, DOI: 10.1111/j.1442-200X.2010.03090.x

  7. Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2777–2784, Marzena Gajecka, Reem Saadeh, Katherine L. Mackay, Caron D. Glotzbach, Krystyna Spodar, David Chitayat and Lisa G. Shaffer

    Version of Record online : 27 OCT 2008, DOI: 10.1002/ajmg.a.32427

  8. Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2785–2790, Emily Chen, Elise Obolensky, Katherine A. Rauen, Lisa G. Shaffer and Xu Li

    Version of Record online : 15 OCT 2008, DOI: 10.1002/ajmg.a.32437

  9. Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 2, 1 December 2005, Pages: 136–140, Vijay S. Tonk, Golder N. Wilson, Svetlana A. Yatsenko, Pawel Stankiewicz, James R. Lupski, Robert C. Schutt, J.K. Northup and Gopalrao V.N. Velagaleti

    Version of Record online : 8 NOV 2005, DOI: 10.1002/ajmg.a.30958

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    Growth patterns of patients with 1p36 deletion syndrome

    Congenital Anomalies

    Volume 54, Issue 2, May 2014, Pages: 82–86, Noriko Sangu, Keiko Shimojima, Shino Shimada, Tomohiro Ando and Toshiyuki Yamamoto

    Version of Record online : 21 APR 2014, DOI: 10.1111/cga.12029

  11. Detailed molecular analysis of 1p36 in neuroblastoma

    Medical and Pediatric Oncology

    Volume 36, Issue 1, 1 January 2001, Pages: 37–41, P.S. White, P.M. Thompson, B.A. Seifried, E.P. Sulman, S.J. Jensen, C. Guo, J.M. Maris, M.D. Hogarty, C. Allen, J.A. Biegel, T.C. Matise, S.G. Gregory, C.P. Reynolds and G.M. Brodeur

    Version of Record online : 10 JAN 2001, DOI: 10.1002/1096-911X(20010101)36:1<37::AID-MPO1010>3.0.CO;2-L

  12. A new case of proximal monosomy 1p36, extending the phenotype

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2018–2022, Sabine Rudnik-Schöneborn, Klaus Zerres, Martin Häusler, Alexandra Lott, Timo Krings and Herdit M. Schüler

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32405

  13. A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 3, 15 December 2005, Pages: 216–220, Tiong Yang Tan, Agnes Bankier, Howard R. Slater, Emma L. Northrop, Margaret Zacharin and Ravi Savarirayan

    Version of Record online : 8 NOV 2005, DOI: 10.1002/ajmg.a.31013

  14. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1637–1654, William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Zand, Fuki M. Hisama, Christopher A. Walsh, Richard J. Leventer, Christa L. Martin, Marzena Gajecka and Lisa G. Shaffer

    Version of Record online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32293

  15. Refined FISH characterization of a de novo 1p22–p36.2 paracentric inversion and associated 1p21–22 deletion in a patient with signs of 1p36 microdeletion syndrome

    American Journal of Medical Genetics

    Volume 99, Issue 4, 1 April 2001, Pages: 308–313, Palma Finelli, Daniela Giardino, Silvia Russo, Giulietta Gottardi, Francesca Cogliati, Graziano Grugni, Federka Natacci and Lidia Larizza

    Version of Record online : 26 FEB 2001, DOI: 10.1002/ajmg.1181

  16. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 15, 1 August 2006, Pages: 1692–1695, Jason Neal, Kira Apse, Mustafa Sahin, Christopher A. Walsh and Volney L. Sheen

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31334

  17. Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 1, 15 November 2004, Pages: 94–98, Hiroyuki Torisu, Toshiyuki Yamamoto, Takehisa Fujiwaki, Mitsutaka Kadota, Mitsuo Oshimura, Kenji Kurosawa, Shinjiro Akaboshi and Akira Oka

    Version of Record online : 21 SEP 2004, DOI: 10.1002/ajmg.a.30413

  18. Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1)

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 16, 15 August 2006, Pages: 1773–1777, Yoko Hiraki, Hiroko Fujita, Shunji Yamamori, Hirofumi Ohashi, Maki Eguchi, Naoki Harada, Takeshi Mizuguchi and Naomichi Matsumoto

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31364

  19. Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 11, 1 June 2006, Pages: 1156–1163, P.A. Lennon, M.L. Cooper, M.A. Curtis, C. Lim, Z. Ou, A. Patel, S.W. Cheung and C.A. Bacino

    Version of Record online : 10 MAY 2006, DOI: 10.1002/ajmg.a.31243

  20. Delineating the phenotype of 1p36 deletion in adolescents and adults

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2496–2503, Ashley Brazil, Kevin Stanford, Teresa Smolarek and Robert Hopkin

    Version of Record online : 8 JUL 2014, DOI: 10.1002/ajmg.a.36657