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There are 7927043 results for: content related to: Pallister–Killian syndrome: Historical perspective and foreword

  1. Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3002–3017, Alisha Wilkens, Hongbin Liu, Kristen Park, Lindsey B. Campbell, Marie Jackson, Anna Kostanecka, Mary Pipan, Kosuke Izumi, Phillip Pallister and Ian D. Krantz

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35722

  2. 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

  3. 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

  4. 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

  5. Between Worlds: The Rhetorical Universe of Paradise Lost– By William Pallister

    Milton Quarterly

    Volume 44, Issue 4, December 2010, Pages: 281–284, James Egan

    Version of Record online : 20 DEC 2010, DOI: 10.1111/j.1094-348X.2010.00261.x

  6. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype

    American Journal of Medical Genetics

    Volume 65, Issue 2, 16 October 1996, Pages: 104–108, Magdalena M. Bielanska, Mohamed M. Khalifa and Alessandra M.V. Duncan

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.0.CO;2-S

  7. 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

  8. THE USE OF INTERPHASE FISH FOR PRENATAL DIAGNOSIS OF PALLISTER–KILLIAN SYNDROME

    Prenatal Diagnosis

    Volume 17, Issue 3, March 1997, Pages: 255–265, PATRICIA A. MOWERY-RUSHTON, MONA P. STADLER, SALLY J. KOCHMAR, ELIZABETH McPHERSON, URVASHI SURTI and W. ALLEN HOGGE

    Version of Record online : 28 APR 1999, DOI: 10.1002/(SICI)1097-0223(199703)17:3<255::AID-PD49>3.0.CO;2-T

  9. 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

  10. Pallister–Killian syndrome presenting through nuchal translucency screening for trisomy 21

    Prenatal Diagnosis

    Volume 20, Issue 8, August 2000, Pages: 670–672, K. Langford, S. Hodgson, M. Seller and D. Maxwell

    Version of Record online : 14 AUG 2000, DOI: 10.1002/1097-0223(200008)20:8<670::AID-PD885>3.0.CO;2-U

  11. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro-Acro-Visceral Early lethality (CAVE) multiplex syndrome

    American Journal of Medical Genetics

    Volume 43, Issue 4, 1 July 1992, Pages: 669–677, Dr. Alain Verloes, Yves Gillerot, Jean-Paul Langhendries, Jean-Pierre Fryns and Lucien Koulischer

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320430404

  12. 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

  13. 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

  14. 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

  15. Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selection

    American Journal of Medical Genetics

    Volume 72, Issue 1, 3 October 1997, Pages: 106–110, Regine Schubert, Renate Viersbach, Thomas Eggermann, Manfred Hansmann and Gesa Schwanitz

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971003)72:1<106::AID-AJMG21>3.0.CO;2-U

  16. Pallister-killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridization

    American Journal of Medical Genetics

    Volume 41, Issue 3, 1 December 1991, Pages: 381–387, Frank Speleman, Jules G. Leroy, Nadine Van Roy, Anne De Paepe, Ron Suijkerbuijk, Han Brunner, Leendert Looijenga, Marie-Rose Verschraegen-Spae and Edward Orye

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320410321

  17. 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

  18. Tetrasomy 12p (Pallister-Killian syndrome): Ultrasound indicators and confirmation by interphase fish

    Prenatal Diagnosis

    Volume 14, Issue 9, September 1994, Pages: 787–792, Dr. R. D. Wilson, K. Harrison, L. A. Clarke and S. L. Yong

    Version of Record online : 22 NOV 2005, DOI: 10.1002/pd.1970140904

  19. Extending the Pallister-Hall syndrome to include other central nervous system malformations

    American Journal of Medical Genetics

    Volume 40, Issue 4, 15 September 1991, Pages: 395–400, David P. Finnigan, Sterling K. Clarren and Joel E. Haas

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320400403

  20. Pallister—Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization

    Clinical Genetics

    Volume 54, Issue 4, October 1998, Pages: 294–302, J. Chiesa, M. Hoffet, O. Rousseau, JM Bourgeois, P. Sarda, P. Mares and JP Bureau

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1998.tb03731.x