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There are 59091 results for: content related to: De novo trisomy 12p in twin girls with different levels of mosaicism

  1. Pallister–Killian syndrome

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

    Volume 166, Issue 4, December 2014, Pages: 406–413, Kosuke Izumi and Ian D. Krantz

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.c.31423

  2. Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1517–1519, J.M. Cobben, M. Engelen and A. Polstra

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35866

  3. The natural history of trisomy 12p

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 7, 1 April 2006, Pages: 695–703, Reeval Segel, Inga Peter, Laurie A. Demmer, Janet M. Cowan, Jodi D. Hoffman and Diana W. Bianchi

    Version of Record online : 24 FEB 2006, DOI: 10.1002/ajmg.a.31143

  4. Role of gain of 12p in germ cell tumour development

    APMIS

    Volume 111, Issue 1, January 2003, Pages: 161–170, LEENDERT H. J. LOOIJENGA, GAETANO ZAFARANA, BEATA GRYGALEWICZ, BRENDA SUMMERSGILL, MARIA DEBIEC-RYCHTER, JORIS VELTMAN, ERIC F. P. M. SCHOENMAKERS, SANDRINE RODRIGUEZ, OSMAN JAFER, JEREMY CLARK, AD GEURTS VAN KESSEL, JANET SHIPLEY, RUUD J. H. L. M. VAN GURP, AD J. M. GILLIS and J. WOLTER OOSTERHUIS

    Version of Record online : 6 MAY 2003, DOI: 10.1034/j.1600-0463.2003.11101201.x

  5. PARK16 is associated with PD in the Malaysian population

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Aroma Agape Gopalai, Azlina Ahmad-Annuar, Hui-Hua Li, Yi Zhao, Shen-Yang Lim, Ai Huey Tan, Thien Thein Lim, Gaik Bee Eow, Puvanarajah Santhi, Viswanathan Shanthi, Mohamed Ibrahim Norlinah, Zariah Abdul Aziz, Soo Kun Lim, Chong Tin Tan and Eng-King Tan

    Version of Record online : 13 MAY 2016, DOI: 10.1002/ajmg.b.32454

  6. A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 3, 1 February 2006, Pages: 238–244, Desheng Liang, Lingqian Wu, Qian Pan, Naoki Harada, Zhigao Long, Kun Xia, Koh-ichiro Yoshiura, Heping Dai, Norio Niikawa, Fang Cai and Jiahui Xia

    Version of Record online : 12 JAN 2006, DOI: 10.1002/ajmg.a.31077

  7. You have full text access to this OnlineOpen article
    Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1

    Cancer Medicine

    Volume 4, Issue 12, December 2015, Pages: 1871–1878, John Richard McPherson, Choon-Kiat Ong, Cedric Chuan-Young Ng, Vikneswari Rajasegaran, Hong-Lee Heng, Willie Shun-Shing Yu, Benita Kiat-Tee Tan, Preetha Madhukumar, Melissa Ching-Ching Teo, Joanne Ngeow, Aye-Aye Thike, Steven George Rozen, Puay-Hoon Tan, Ann Siew-Gek Lee, Bin-Tean Teh and Yoon-Sim Yap

    Version of Record online : 3 OCT 2015, DOI: 10.1002/cam4.551

  8. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  9. 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

  10. 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

  11. Mosaicism and clinical genetics

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

    Volume 166, Issue 4, December 2014, Pages: 397–405, Nancy B. Spinner and Laura K. Conlin

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.c.31421

  12. Gelatin–siloxane nanoparticles to deliver nitric oxide for vascular cell regulation: Synthesis, cytocompatibility, and cellular responses

    Journal of Biomedical Materials Research Part A

    Volume 103, Issue 3, March 2015, Pages: 929–938, Qin-Yuan Zhang, Zu-Yong Wang, Feng Wen, Lei Ren, Jun Li, Swee Hin Teoh and Eng San Thian

    Version of Record online : 28 MAY 2014, DOI: 10.1002/jbm.a.35239

  13. Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 349–352, Zafer Cetin, Ercan Mihci, Sezin Yakut, Ibrahim Keser, Sibel Berker Karauzum and Guven Luleci

    Version of Record online : 13 JAN 2011, DOI: 10.1002/ajmg.a.33811

  14. You have free access to this content
    A national common massive transfusion protocol (MTP) is a feasible and advantageous option for centralized blood services and hospitals

    Vox Sanguinis

    Volume 110, Issue 1, January 2016, Pages: 36–50, J. Chay, M. Koh, H. H. Tan, J. Ng, H. J. Ng, N. Chia, P. Kuperan, J. Tan, E. Lew, L. K. Tan, P. L. Koh, K. A. Desouza, S. Bin Mohd Fathil, P. M. Kyaw and A. L. Ang

    Version of Record online : 14 JUL 2015, DOI: 10.1111/vox.12311

  15. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  16. 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

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35500

  17. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1770–1776, Esra Tuğ, Meral Yirmibeş Karaoğuz, Gülsüm Kayhan, Mehmet Ali Ergün and Ferda E. Perçin

    Version of Record online : 26 MAR 2014, DOI: 10.1002/ajmg.a.36495

  18. Age-related biological features of germ cell tumors

    Genes, Chromosomes and Cancer

    Volume 53, Issue 3, March 2014, Pages: 215–227, Kate Collinson, Matthew J. Murray, Nicolas M. Orsi, Michele Cummings, Janet Shipley, Johnathan K. Joffe, Nicholas Coleman and Daniel Stark

    Version of Record online : 5 DEC 2013, DOI: 10.1002/gcc.22131

  19. 12q24.33 deletion: Report of a patient with intellectual disability and review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1409–1413, Martin Kehrer, Sylke Singer, Ute Grasshoff, Karin Schäferhoff, Michael Bonin, Olaf Riess, Martin Schöning and Andreas Tzschach

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35877

  20. You have free access to this content
    Imaging: Upconversion Nanoparticles as a Contrast Agent for Photoacoustic Imaging in Live Mice (Adv. Mater. 32/2014)

    Advanced Materials

    Volume 26, Issue 32, August 27, 2014, Page: 5632, Swarup Kumar Maji, Sivaramapanicker Sreejith, James Joseph, Manjing Lin, Tingchao He, Yan Tong, Handong Sun, Sidney Wing-Kwong Yu and Yanli Zhao

    Version of Record online : 21 AUG 2014, DOI: 10.1002/adma.201470220