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There are 9135 results for: content related to: Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

  1. Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3033–3045, Kosuke Izumi, Laura K. Conlin, Donna Berrodin, Christopher Fincher, Alisha Wilkens, Chad Haldeman-Englert, Sulagna C. Saitta, Elaine H. Zackai, Nancy B. Spinner and Ian D. Krantz

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35500

  2. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3046–3053, Laura K. Conlin, Maninder Kaur, Kosuke Izumi, Lindsey Campbell, Alisha Wilkens, Dinah Clark, Matthew A. Deardorff, Elaine H. Zackai, Phillip Pallister, Hakon Hakonarson, Nancy B. Spinner and Ian D. Krantz

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35726

  3. Seizure characteristics in Pallister–Killian syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3026–3032, Meghan S. Candee, John C. Carey, Ian D. Krantz and Francis M. Filloux

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35567

  4. Pallister–Killian syndrome

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

    Volume 166, Issue 4, December 2014, Pages: 406–413, Kosuke Izumi and Ian D. Krantz

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.c.31423

  5. Developmental and behavioral characteristics of individuals with Pallister–Killian syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3018–3025, Anna Kostanecka, Lindsey B. Close, Kosuke Izumi, Ian D. Krantz and Mary Pipan

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35670

  6. Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: A skin biopsy should remain the diagnostic gold standard

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 669–673, Jennelle C. Hodge, Rachael L. Hulshizer, Pam Seger, Angelique St Antoine, Jennifer Bair and Salman Kirmani

    Version of Record online : 7 FEB 2012, DOI: 10.1002/ajmg.a.35209

  7. Elevation of insulin-like growth factor binding protein-2 level in Pallister–Killian syndrome: Implications for the postnatal growth retardation phenotype

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1268–1274, Kosuke Izumi, Emily Kellogg, Katsunori Fujiki, Maninder Kaur, Richard K. Tilton, Sarah Noon, Alisha Wilkens, Katsuhiko Shirahige and Ian D. Krantz

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.36976

  8. Pallister-Killian syndrome: Case report with pineal tumor

    American Journal of Medical Genetics

    Volume 95, Issue 1, 6 November 2000, Pages: 75–78, Laura Mauceri, Giovanni Sorge, Gemma Incorpora and Lorenzo Pavone

    Version of Record online : 7 NOV 2000, DOI: 10.1002/1096-8628(20001106)95:1<75::AID-AJMG15>3.0.CO;2-J

  9. Pallister–Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 510–514, Ida Vogel, Troels Lyngbye, Alice Nielsen, Søren Pedersen and Jens Michael Hertz

    Version of Record online : 12 FEB 2009, DOI: 10.1002/ajmg.a.32681

  10. Samail Ophiolite plutonic suite: Field relations, phase variation, cryptic variation and layering, and a model of a spreading ridge magma chamber

    Journal of Geophysical Research: Solid Earth (1978–2012)

    Volume 86, Issue B4, 10 April 1981, Pages: 2593–2644, J. S. Pallister, C. A. Hopson

    Version of Record online : 20 SEP 2012, DOI: 10.1029/JB086iB04p02593

  11. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1950–1954, Heather J. Stalker, B.A. Gray, A. Bent-Williams and R.T. Zori

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31403

  12. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 3, 15 December 2003, Pages: 296–300, Barbara Leube, Frank Majewski, Jürgen Gebauer and Brigitte Royer-Pokora

    Version of Record online : 12 JUN 2003, DOI: 10.1002/ajmg.a.20339

  13. 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

  14. Pallister–Killian syndrome: tetrasomy of 12pter[RIGHTWARDS ARROW]12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome

    Clinical Genetics

    Volume 72, Issue 5, November 2007, Pages: 434–440, X-L Huang, M Isabel de Michelena, E Leon, TA Maher, R McClure and A Milunsky

    Version of Record online : 25 SEP 2007, DOI: 10.1111/j.1399-0004.2007.00894.x

  15. Pallister-Killian and Fryns syndromes: Nosology

    American Journal of Medical Genetics

    Volume 47, Issue 2, 15 August 1993, Pages: 241–245, Elizabeth W. McPherson, Deborah M. Ketterer and Donna J. Salsburey

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320470219

  16. Pallister-Killian syndrome: difficulties of prenatal diagnosis

    Prenatal Diagnosis

    Volume 22, Issue 6, June 2002, Pages: 470–477, Bérénice Doray, Françoise Girard-Lemaire, Bernard Gasser, Jean-Jacques Baldauf, Bernard de Geeter, Michèle Spizzo, Charles Zeidan and Elisabeth Flori

    Version of Record online : 6 JUN 2002, DOI: 10.1002/pd.342

  17. aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 914–918, Aaron Theisen, Jill A. Rosenfeld, Sandra A. Farrell, Catharine J. Harris, Heather H. Wetzel, Beth A. Torchia, Bassem A. Bejjani, Blake C. Ballif and Lisa G. Shaffer

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32767

  18. Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 505–509, Alison Yeung, David Francis, Olivia Giouzeppos and David J. Amor

    Version of Record online : 12 FEB 2009, DOI: 10.1002/ajmg.a.32664

  19. Mild phenotype in a 15-year-old boy with Pallister–Killian syndrome

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 90–93, D. Genevieve, V. Cormier-Daire, D. Sanlaville, L. Faivre, P. Gosset, L. Allart, M. Picq, A. Munnich, S. Romana, Mc. de Blois and M. Vekemans

    Version of Record online : 30 AUG 2002, DOI: 10.1002/ajmg.a.10877

  20. You have full text access to this OnlineOpen article
    Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

    Molecular Genetics & Genomic Medicine

    Volume 4, Issue 3, May 2016, Pages: 257–261, Katsunori Fujiki, Katsuhiko Shirahige, Maninder Kaur, Matthew A. Deardorff, Laura K. Conlin, Ian D. Krantz and Kosuke Izumi

    Version of Record online : 20 JAN 2016, DOI: 10.1002/mgg3.200