Search Results

There are 64047 results for: content related to: Hypothalamic Hamartomas and Seizures: Distinct Natural History of Isolated and Pallister-Hall Syndrome Cases

  1. Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome

    American Journal of Medical Genetics

    Volume 94, Issue 1, 4 September 2000, Pages: 64–67, Frank Ondrey, Andrew Griffith, Carter Van Waes, Susan Rudy, Kathryn Peters, Linda McCullagh and Leslie G. Biesecker

    Version of Record online : 6 SEP 2000, DOI: 10.1002/1096-8628(20000904)94:1<64::AID-AJMG13>3.0.CO;2-D

  2. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: 1142–1154, Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann N. Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C.M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa M.J. Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep C. Vasudevan, Bernhard Zabel, Janice Zunich, Graeme C.M. Black and Leslie G. Biesecker

    Version of Record online : 29 JUL 2010, DOI: 10.1002/humu.21328

  3. Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome

    American Journal of Medical Genetics

    Volume 99, Issue 2, 1 March 2001, Pages: 128–131, C. Galasso, G. Scirè, F. Fabbri, G.L. Spadoni, C.E. Killoran, L.G. Biesecker and B. Boscherini

    Version of Record online : 6 FEB 2001, DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1128>3.0.CO;2-S

  4. Pallister–Hall syndrome: Unreported skeletal features of a GLI3 mutation

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 390–394, T. Roscioli, D. Kennedy, J. Cui, B. Fonseca, G.F. Watson, J. Pereira, Y-G. Xie and D. Mowat

    Version of Record online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30818

  5. You have free access to this content
    Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 617–620, Mindy H. Li, Moriah Eberhard, Pamela Mudd, Luv Javia, Robert Zimmerman, Nahla Khalek and Elaine H. Zackai

    Version of Record online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36915

  6. Gonadal mosaicism in severe Pallister–Hall syndrome

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 3, 30 January 2004, Pages: 296–302, David Ng, Jennifer J. Johnston, Joyce T. Turner, Eilis A. Boudreau, Edythe A. Wiggs, William H. Theodore and Leslie G. Biesecker

    Version of Record online : 9 JUN 2003, DOI: 10.1002/ajmg.a.20338

  7. You have free access to this content
    Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1108–1115, Fabien Guimiot, Pascale Marcorelles, Azzedine Aboura, Georges Bonyhay, Sophie Patrier, Françoise Menez, Valérie Drouin-Garraud, Valentine Icowick, Danièle Eurin, Catherine Garel, Hélène Moirot, Eric Verspyck, Pascale Saugier-Veber, Tania Attie-Bitach, Olivier Picone, Jean François Oury, Alain Verloes, Anne Lise Delezoide and Pr. Annie Laquerrière

    Version of Record online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32859

  8. Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis

    Clinical Genetics

    Volume 58, Issue 1, July 2000, Pages: 28–30, Ce Killoran, M Abbott, Va McKusick and Lg Biesecker

    Version of Record online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580105.x

  9. Psychiatric and neuropsychological characterization of Pallister-Hall syndrome

    Clinical Genetics

    Volume 67, Issue 1, January 2005, Pages: 87–92, A Azzam, DM Lerner, KF Peters, E Wiggs, DL Rosenstein and LG Biesecker

    Version of Record online : 22 DEC 2004, DOI: 10.1111/j.1399-0004.2005.00370.x

  10. Bifid epiglottis: Syndromic constituent rather than isolated anomaly

    Pediatrics International

    Volume 52, Issue 5, October 2010, Pages: 723–728, Haruko Tsurumi, Masaki Ito, Kenji Ishikura, Hiroshi Hataya, Masahiro Ikeda, Masataka Honda and Gen Nishimura

    Version of Record online : 9 FEB 2010, DOI: 10.1111/j.1442-200X.2010.03096.x

  11. You have full text access to this OnlineOpen article
    Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

    Annals of Clinical and Translational Neurology

    Volume 3, Issue 5, May 2016, Pages: 356–365, Hirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Jun Tohyama, Mitsuhiro Kato, Mitsuko Nakashima, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Shigeki Kameyama and Naomichi Matsumoto

    Version of Record online : 24 MAR 2016, DOI: 10.1002/acn3.300

  12. Pallister–Hall syndrome has gone the way of modern medical genetics

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

    Volume 166, Issue 4, December 2014, Pages: 414–418, Judith G. Hall

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.c.31419

  13. Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3143–3147, Yoko Narumi, Tomoki Kosho, Goro Tsuruta, Masaaki Shiohara, Ei Shimazaki, Tetsuo Mori, Ayako Shimizu, Yasuhiko Igawa, Shuji Nishizawa, Kimiyo Takagi, Rie Kawamura, Keiko Wakui and Yoshimitsu Fukushima

    Version of Record online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33720

  14. Pallister-Hall and Greig Cephalopolysyndactyly Syndromes

    Standard Article

    Management of Genetic Syndromes

    Leslie G. Biesecker

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs035

  15. You have free access to this content
    Phytosphingosine-phosphate is a signal for AtMPK6 activation and Arabidopsis response to chilling

    New Phytologist

    Volume 194, Issue 1, April 2012, Pages: 181–191, Christelle Dutilleul, Ghouziel Benhassaine-Kesri, Chantal Demandre, Nathalie Rézé, Alban Launay, Sandra Pelletier, Jean-Pierre Renou, Alain Zachowski, Emmanuel Baudouin and Isabelle Guillas

    Version of Record online : 11 JAN 2012, DOI: 10.1111/j.1469-8137.2011.04017.x

  16. Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome

    Management of Genetic Syndromes

    Suzanne B. Cassidy, Judith E. Allanson, Pages: 615–623, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch41

  17. You have free access to this content
    Geologic relationships between gray hematite, sulfates, and clays in Capri Chasma

    Journal of Geophysical Research: Planets (1991–2012)

    Volume 117, Issue E11, November 2012, Catherine M. Weitz, Eldar Z. Noe Dobrea, Melissa D. Lane and Amy T. Knudson

    Version of Record online : 25 JUL 2012, DOI: 10.1029/2012JE004092

  18. Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 3, 1 February 2007, Pages: 277–284, Marco Castori, Sofia Douzgou, Evelina Silvestri, Férechté Encha-Razavi and Bruno Dallapiccola

    Version of Record online : 17 JAN 2007, DOI: 10.1002/ajmg.a.31591

  19. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome)

    American Journal of Medical Genetics

    Volume 33, Issue 4, August 1989, Pages: 489–499, Kimberly Iafolla, Jonathan D. Fratkin, Peter K. Spiegel, M. Michael Cohen Jr. and John M. Graham Jr.

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320330416

  20. You have free access to this content
    GLI3 is rarely implicated in OFD syndromes with midline abnormalities

    Human Mutation

    Volume 32, Issue 11, November 2011, Pages: 1332–1333, M. Avila, N. Gigot, B. Aral, P. Callier, E. Gautier, J. Thevenon, L. Pasquier, E. Lopez, L. Gueneau, L. Duplomb, A. Goldenberg, C. Baumann, V. Cormier, S. Marlin, A. Masurel-Paulet, F. Huet, T. Attié-Bitach, L. Faivre and C. Thauvin-Robinet

    Version of Record online : 19 SEP 2011, DOI: 10.1002/humu.21570