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There are 97203 results for: content related to: A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

  1. Uniparental Disomy for Individual Human Chromosomes: Review of Cases

    Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

    Eric Engel, Stylianos E. Antonarakis, Pages: 49–132, 2002

    Published Online : 19 MAR 2002, DOI: 10.1002/0471221937.ch4

  2. Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 287–305, Dieter Kotzot and Gerd Utermann

    Version of Record online : 14 JUN 2005, DOI: 10.1002/ajmg.a.30483

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    The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

    Biology of the Cell

    Volume 103, Issue 7, July 2011, Pages: 303–317, Pablo Lapunzina and David Monk

    Version of Record online : 3 JAN 2012, DOI: 10.1042/BC20110013

  4. Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2165–2171, Joerg Mattes, Bruce Whitehead, Thomas Liehr, Ian Wilkinson, John Bear, Kerry Fagan, Paul Craven, Bruce Bennetts and Matthew Edwards

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31896

  5. Uniparental disomy, isodisomy, and imprinting: Probable effects in man and strategies for their detection

    American Journal of Medical Genetics

    Volume 40, Issue 4, 15 September 1991, Pages: 432–439, Professor Eric Engel and C. Dawn DeLozier-Blanchet

    Version of Record online : 6 JUN 2005, DOI: 10.1002/ajmg.1320400411

  6. Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 2, 1 June 2004, Pages: 167–171, Cathy Chu, Stuart Schwartz and Elizabeth McPherson

    Version of Record online : 19 DEC 2003, DOI: 10.1002/ajmg.a.20618

  7. Interpretation of molecular results in segmental uniparental disomy

    Hepatology Research

    Volume 42, Issue 11, November 2012, Pages: 1150–1153, Edda Haberlandt and Dieter Kotzot

    Version of Record online : 25 OCT 2012, DOI: 10.1111/j.1872-034X.2012.01041.x

  8. Zellweger syndrome resulting from maternal isodisomy of chromosome 1

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 18, 15 September 2007, Pages: 2172–2177, Claire L.S. Turner, David J. Bunyan, N. Simon Thomas, Deborah J.G. Mackay, Huw P. Jones, Hans R. Waterham, Ronald J.A. Wanders and I. Karen Temple

    Version of Record online : 13 AUG 2007, DOI: 10.1002/ajmg.a.31912

  9. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15

    American Journal of Medical Genetics

    Volume 82, Issue 3, 29 January 1999, Pages: 265–274, Dieter Kotzot

    Version of Record online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19990129)82:3<265::AID-AJMG14>3.0.CO;2-6

  10. Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1

    American Journal of Medical Genetics

    Volume 104, Issue 3, 1 December 2001, Pages: 250–256, Osamu Miyoshi, Ryuichi Yabe, Keiko Wakui, Yoshimitsu Fukushima, Shigeki Koizumi, Makoto Uchikawa, Tadashi Kajii, Chikahiko Numakura, Shunji Takahashi, Kiyoshi Hayasaka and Norio Niikawa

    Version of Record online : 25 OCT 2001, DOI: 10.1002/ajmg.10000

  11. Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2

    Clinical Genetics

    Volume 76, Issue 6, December 2009, Pages: 552–557, M-P López-Garrido, E Campos-Mollo, M-Á Harto and J Escribano

    Version of Record online : 6 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01242.x

  12. Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 2, 1 October 2005, Pages: 127–132, Masayo Kagami, Gen Nishimura, Torayuki Okuyama, Michiko Hayashidani, Toshio Takeuchi, Shinya Tanaka, Fumitoshi Ishino, Kenji Kurosawa and Tsutomu Ogata

    Version of Record online : 8 SEP 2005, DOI: 10.1002/ajmg.a.30941

  13. Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy

    American Journal of Medical Genetics

    Volume 99, Issue 3, 15 March 2001, Pages: 223–233, Britt-Marie Anderlid, Sigrid Sahlén, Jacqueline Schoumans, Eva Holmberg, Ingegerd Åhsgren, Geert Mortier, Frank Speleman and Elisabeth Blennow

    Version of Record online : 9 FEB 2001, DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1146>3.0.CO;2-W

  14. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

    American Journal of Medical Genetics

    Volume 95, Issue 5, 18 December 2000, Pages: 454–460, Claudia Ginsburg, Siv Fokstuen and Albert Schinzel

    Version of Record online : 2 JAN 2001, DOI: 10.1002/1096-8628(20001218)95:5<454::AID-AJMG9>3.0.CO;2-O

  15. Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 22, 15 November 2007, Pages: 2696–2699, Cedric Le Caignec, Bertrand Isidor, Ulrika de Pontbriand, Valerie David, Marie-Pierre Audrezet, Claude Ferec and Albert David

    Version of Record online : 12 OCT 2007, DOI: 10.1002/ajmg.a.31999

  16. Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature

    American Journal of Medical Genetics

    Volume 79, Issue 5, 12 October 1998, Pages: 366–372, Lisa G. Shaffer, Christopher McCaskill, Kenneth Adkins and Terry J. Hassold

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19981012)79:5<366::AID-AJMG7>3.0.CO;2-H

  17. Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 166–171, Kosuke Izumi, Avni B. Santani, Matthew A. Deardorff, Holly A. Feret, Tanya Tischler, Brian D. Thiel, Surabhi Mulchandani, Catherine A. Stolle, Nancy B. Spinner, Elaine H. Zackai and Laura K. Conlin

    Version of Record online : 7 DEC 2012, DOI: 10.1002/ajmg.a.35625

  18. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 392–397, D Castiglia, M Castori, E Pisaneschi, M Sommi, C Covaciu, G Zambruno, J Fischer and C Magnani

    Version of Record online : 3 AUG 2009, DOI: 10.1111/j.1399-0004.2009.01198.x

  19. Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor

    American Journal of Medical Genetics

    Volume 93, Issue 3, 31 July 2000, Pages: 207–210, Zarir E. Karanjawala, Helena Kääriäinen, Soumitra Ghosh, Joyce Tannenbaum, Colin Martin, Delphine Ally, Jaakko Tuomilehto, Timo Valle and Francis S. Collins

    Version of Record online : 28 JUL 2000, DOI: 10.1002/1096-8628(20000731)93:3<207::AID-AJMG9>3.0.CO;2-A

  20. Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus

    American Journal of Medical Genetics

    Volume 111, Issue 1, 22 July 2002, Pages: 38–42, Tomohiko Kayashima, Masahito Katahira, Naoki Harada, Nobutomo Miwa, Tohru Ohta, Koh-ichiro Yoshiura, Naomichi Matsumoto, Yoshibumi Nakane, Yusuke Nakamura, Tadashi Kajii, Norio Niikawa and Tatsuya Kishino

    Version of Record online : 17 MAY 2002, DOI: 10.1002/ajmg.10511