Search Results

There are 18226 results for: content related to: In this issue

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  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. 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

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02429.x

  9. 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

  10. Parental origin and mechanisms of formation of three eases of 12p tetrasomy

    Clinical Genetics

    Volume 50, Issue 1, July 1996, Pages: 41–46, Catherine Turleau, Brigitte Simon-Bouy, Estelle Austruy, Marie-Claude Grisard, Françoise Lemaire, Denise Molina-Gomes, Jean-Pierre Siffroi and Joëlle Boué

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1996.tb02344.x

  11. Targeted prenatal diagnosis of Pallister–Killian syndrome

    Prenatal Diagnosis

    Volume 37, Issue 5, May 2017, Pages: 446–452, Anna Kucińska-Chahwan, Julia Bijok, Sylwia Dąbkowska, Anna Jóźwiak, Alicja Ilnicka, Beata Nowakowska, Grzegorz Jakiel and Tomasz Roszkowski

    Version of Record online : 27 MAR 2017, DOI: 10.1002/pd.5030

  12. 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

  13. Cytogenetic variability in the proportion of abnormal cells between the various tissues in prenatally detected mosaic tetrasomy 12p

    Prenatal Diagnosis

    Volume 27, Issue 12, 15 December 2007, Pages: 1170–1173, Chih-Ping Chen, Fuu-Jen Tsai, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town and Wayseen Wang

    Version of Record online : 20 SEP 2007, DOI: 10.1002/pd.1850

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3211–3213, Claudio Graziano, Michèle David, Pamela Magini, Andrea Superti-Furga and Marco Seri

    Version of Record online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35656

  20. 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