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There are 14774 results for: content related to: Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith–Magenis syndrome by Vieira and colleagues

  1. 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

    Article first published online : 8 JUL 2014, DOI: 10.1002/ajmg.a.36657

  2. 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

    Article first published online : 12 NOV 2008, DOI: 10.1002/ajmg.a.32563

  3. Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality

    American Journal of Medical Genetics Part A

    Volume 155, Issue 8, August 2011, Pages: 1964–1968, A. Nicoulaz, F. Rubi, L. Lieder, R. Wolf, B. Goeggel-Simonetti, M. Steinlin, R. Wiest, H.M. Bonel, A. Schaller, S. Gallati and B. Conrad

    Article first published online : 7 JUL 2011, DOI: 10.1002/ajmg.a.33210

  4. 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

    Article first published online : 5 OCT 2007, DOI: 10.1002/ajmg.c.30154

  5. Genomic instability in Ip and human malignancies

    Genes, Chromosomes and Cancer

    Volume 16, Issue 4, August 1996, Pages: 211–229, Manfred Schwab, Christian Praml and Lukas C. Amler

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2264(199608)16:4<211::AID-GCC1>3.0.CO;2-0

  6. 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

    Article first published online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33051

  7. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 1, January 2010, Pages: 102–110, Carla S. D'Angelo, Ilana Kohl, Monica Castro Varela, Cláudia I.E. de Castro, Chong A. Kim, Débora R. Bertola, Charles M. Lourenço and Célia P. Koiffmann

    Article first published online : 23 DEC 2009, DOI: 10.1002/ajmg.a.33160

  8. Deletion 1p36 Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 239–247, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch18

  9. You have free access to this content
    Decreased expression of DFF45/ICAD is correlated with a poor prognosis in patients with esophageal carcinoma

    Cancer

    Volume 95, Issue 12, 15 December 2002, Pages: 2473–2478, Shigeru Konishi, Hideyuki Ishiguro, Yasuyuki Shibata, Junzo Kudo, Yukio Terashita, Hironori Sugiura, Hiroshi Koyama, Masahiro Kimura, Atsushi Sato, Noriyuki Shinoda, Yoshiyuki Kuwabara and Yoshitaka Fujii

    Article first published online : 3 DEC 2002, DOI: 10.1002/cncr.10987

  10. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 1951–1959, Jill A. Rosenfeld, John A. Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow, Jerome Gorski, Robin Troxell, Cynthia Forster-Gibson, Deirdre Cilliers, R. Gordon Hislop, Allen Lamb, Beth Torchia, Blake C. Ballif and Lisa G. Shaffer

    Article first published online : 15 JUL 2010, DOI: 10.1002/ajmg.a.33516

  11. 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

    Article first published online : 20 JUN 2007, DOI: 10.1002/pd.1796

  12. 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

    Article first published online : 8 NOV 2005, DOI: 10.1002/ajmg.a.30958

  13. Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 415–420, Shino Shimada, Yoshihiro Maegaki, Makiko Osawa and Toshiyuki Yamamoto

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36304

  14. 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

    Article first published online : 16 OCT 2008, DOI: 10.1002/ajmg.a.32556

  15. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome

    Clinical Genetics

    Volume 72, Issue 4, October 2007, Pages: 329–338, S-HL Kang, A Scheffer, Z Ou, J Li, F Scaglia, J Belmont, SR Lalani, E Roeder, V Enciso, S Braddock, J Buchholz, S Vacha, AC Chinault, SW Cheung and CA Bacino

    Article first published online : 29 AUG 2007, DOI: 10.1111/j.1399-0004.2007.00876.x

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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

    Article first published online : 21 APR 2014, DOI: 10.1111/cga.12029

  17. 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

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

  18. 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

    Article first published online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32405

  19. 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

    Article first published online : 8 NOV 2005, DOI: 10.1002/ajmg.a.31013

  20. Minimal genotype–phenotype correlation for small deletions within distal 1p36

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3164–3169, A. Buck, C. du Souich and Cornelius F. Boerkoel

    Article first published online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34333