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There are 8153 results for: content related to: Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan

  1. 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

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    Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2039–2049, Diana Mitter, Karin Buiting, Ferdinand von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike Angelika Mau-Holzmann, Eva-Christina Prott, Dagmar Wieczorek and Gabriele Gillessen-Kaesbach

    Version of Record online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31414

  4. 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

  5. UPD detection using homozygosity profiling with a SNP genotyping microarray

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 757–768, Peter Papenhausen, Stuart Schwartz, Hiba Risheg, Elisabeth Keitges, Inder Gadi, Rachel D. Burnside, Vikram Jaswaney, John Pappas, Romela Pasion, Kenneth Friedman and James Tepperberg

    Version of Record online : 15 MAR 2011, DOI: 10.1002/ajmg.a.33939

  6. Evidence for imprinting on chromosome 16: The effect of uniparental disomy on the outcome of mosaic trisomy 16 pregnancies

    American Journal of Medical Genetics

    Volume 112, Issue 2, 1 October 2002, Pages: 123–132, P.J. Yong, S.A. Marion, I.J. Barrett, D.K. Kalousek and W.P. Robinson

    Version of Record online : 9 JUL 2002, DOI: 10.1002/ajmg.10702

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    The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

    Molecular Genetics & Genomic Medicine

    Volume 5, Issue 6, November 2017, Pages: 668–677, Thomas Eggermann, Barbara Oehl-Jaschkowitz, Severin Dicks, Wolfgang Thomas, Deniz Kanber, Beate Albrecht, Matthias Begemann, Ingo Kurth, Jasmin Beygo and Karin Buiting

    Version of Record online : 22 SEP 2017, DOI: 10.1002/mgg3.324

  8. Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15

    American Journal of Medical Genetics

    Volume 111, Issue 4, 1 September 2002, Pages: 366–375, Dieter Kotzot

    Version of Record online : 13 AUG 2002, DOI: 10.1002/ajmg.10569

  9. Uniparental Disomy

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    Albert Schinzel and Alessandra Baumer

    Published Online : 15 APR 2011, DOI: 10.1002/9780470015902.a0005479.pub2

  10. 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

  11. 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

  12. Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

    American Journal of Medical Genetics

    Volume 93, Issue 5, 28 August 2000, Pages: 381–387, V. Reid Sutton and Lisa G. Shaffer

    Version of Record online : 14 AUG 2000, DOI: 10.1002/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9

  13. Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations

    American Journal of Medical Genetics

    Volume 111, Issue 4, 1 September 2002, Pages: 362–365, Sue Ann Berend, Bassem A. Bejjani, Christopher McCaskill and Lisa G. Shaffer

    Version of Record online : 26 JUN 2002, DOI: 10.1002/ajmg.10566

  14. Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case

    Transfusion

    Volume 53, Issue 6, June 2013, Pages: 1266–1269, Xueling Ou, Chao Liu, Suqin Chen, Jianfeng Yu, Yinming Zhang, Sujuan Liu and Hongyu Sun

    Version of Record online : 23 AUG 2012, DOI: 10.1111/j.1537-2995.2012.03863.x

  15. 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

  16. Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

    American Journal of Medical Genetics

    Volume 94, Issue 3, 18 September 2000, Pages: 249–253, Cintia Fridman and Célia P. Koiffmann

    Version of Record online : 14 SEP 2000, DOI: 10.1002/1096-8628(20000918)94:3<249::AID-AJMG12>3.0.CO;2-X

  17. 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

  18. Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 9, 1 May 2006, Pages: 1004–1009, Wen-Qi Zeng, Hanlin Gao, Louise Brueton, Tim Hutchin, George Gray, Anupam Chakrapani, Simon Olpin and Vivian E. Shih

    Version of Record online : 30 MAR 2006, DOI: 10.1002/ajmg.a.31186

  19. Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3010–3015, Adam C. Smith, Cheryl Shuman, David Chitayat, Leslie Steele, Peter N. Ray, Jaqueline Bourgeois and Rosanna Weksberg

    Version of Record online : 13 NOV 2007, DOI: 10.1002/ajmg.a.32030

  20. Uniparental disomy and human disease: An overview

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

    Volume 154C, Issue 3, 15 August 2010, Pages: 329–334, Kazuki Yamazawa, Tsutomu Ogata and Anne C. Ferguson-Smith

    Version of Record online : 20 AUG 2010, DOI: 10.1002/ajmg.c.30270