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There are 18022 results for: content related to: Developmental and behavioral characteristics of individuals with Pallister–Killian syndrome

  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

    Article first published online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35722

  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

    Article first published online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35726

  3. 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

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

  4. 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

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1998.tb03731.x

  5. 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

    Article first published online : 7 FEB 2012, DOI: 10.1002/ajmg.a.35209

  6. 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

    Article first published online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35567

  7. 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

    Article first published online : 6 JUN 2002, DOI: 10.1002/pd.342

  8. 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

    Article first published online : 12 FEB 2009, DOI: 10.1002/ajmg.a.32664

  9. 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

    Article first published online : 30 AUG 2002, DOI: 10.1002/ajmg.a.10877

  10. 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

    Article first published online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35500

  11. 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

    Article first published online : 12 FEB 2009, DOI: 10.1002/ajmg.a.32681

  12. 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

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320470219

  13. Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

    Prenatal Diagnosis

    Volume 15, Issue 12, December 1995, Pages: 1155–1159, Frans J. Los, Diane Van Opstal, Martin P. Schol, Johannes L. J. Gaillard, Helen Brandenburg, Ans M. W. Van Den Ouweland and Peter A. In 'T Veld

    Article first published online : 14 DEC 2005, DOI: 10.1002/pd.1970151212

  14. 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

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32767

  15. 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

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

  16. Clinical variability of tetrasomy 12p

    Clinical Genetics

    Volume 51, Issue 2, February 1997, Pages: 102–108, G. B. Schaefer, A. Jochar, R. Muneer and W. G. Sanger

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02429.x

  17. Prenatal diagnosis of Pallister–Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization

    Prenatal Diagnosis

    Volume 12, Issue 12, December 1992, Pages: 985–991, S. McLean, W. Stanley, H. Stern, J. Fonda-Allen, G. Devine, T. Ellingham and K. Rosenbaum

    Article first published online : 21 NOV 2005, DOI: 10.1002/pd.1970121203

  18. 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

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

  19. Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister–Killian syndrome

    American Journal of Medical Genetics

    Volume 42, Issue 6, 1 April 1992, Pages: 815–819, Suzanne L. Thornburg Reeser and Sharon L. Wenger

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320420614

  20. 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

    Article first published online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31403