Search Results

There are 25296 results for: content related to: Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome

  1. Trisomy of 19.4 Mb region of chromosome 22 and subtelomeric 17p identified in a male without clinical affectation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 20, 15 October 2007, Pages: 2423–2429, Carme Morales, Anna Soler, Ester Margarit, Irene Madrigal and Aurora Sánchez

    Version of Record online : 12 SEP 2007, DOI: 10.1002/ajmg.a.31777

  2. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1250–1259, Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul S. Meltzer and Kenneth H. Kraemer

    Version of Record online : 3 JUN 2013, DOI: 10.1002/humu.22354

  3. You have free access to this content
    Additional cytogenetic abnormalities in adults with Philadelphia chromosome-positive acute lymphoblastic leukaemia: a study of the Cancer and Leukaemia Group B

    British Journal of Haematology

    Volume 124, Issue 3, February 2004, Pages: 275–288, Meir Wetzler, Richard K. Dodge, Krzysztof Mrózek, Carleton C. Stewart, Andrew J. Carroll, Ramana Tantravahi, James W. Vardiman, Richard A. Larson and Clara D. Bloomfield

    Version of Record online : 12 JAN 2004, DOI: 10.1046/j.1365-2141.2003.04736.x

  4. 22q13 deletion syndrome

    American Journal of Medical Genetics

    Volume 101, Issue 2, 15 June 2001, Pages: 91–99, Mary C. Phelan, R. Curtis Rogers, Robert A. Saul, Gail A. Stapleton, Kevin Sweet, Heather McDermid, Steven R. Shaw, Joanne Claytor, Jan Willis and Desmond P. Kelly

    Version of Record online : 29 MAY 2001, DOI: 10.1002/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C

  5. Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies

    American Journal of Medical Genetics

    Volume 113, Issue 4, 15 December 2002, Pages: 367–370, Anita S. Kulharya, Carolyn Mills Lovell and David B. Flannery

    Version of Record online : 30 AUG 2002, DOI: 10.1002/ajmg.b.10801

  6. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

    American Journal of Medical Genetics

    Volume 7, Issue 4, 1980, Pages: 507–521, Elaine H. Zackai, Beverly S. Emanuel and John M. Optiz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320070412

  7. A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer

    Prenatal Diagnosis

    Volume 25, Issue 8, August 2005, Pages: 683–686, Vaidehi Jobanputra, Wendy K. Chung, April M. Hacker, Beverly S. Emanuel and Dorothy Warburton

    Version of Record online : 28 JUL 2005, DOI: 10.1002/pd.1196

  8. PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

    Prenatal Diagnosis

    Volume 16, Issue 12, December 1996, Pages: 1137–1140, CHIH-PING CHEN, FEN-FEN LIU, SHEAU-WEN JAN, YUH-CHENG YANG and CHUNG-CHI LAN

    Version of Record online : 5 MAY 1999, DOI: 10.1002/(SICI)1097-0223(199612)16:12<1137::AID-PD979>3.0.CO;2-K

  9. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1871–1874, Valérie Bélien, Marion Gérard-Blanluet, Stéphane Serero, Nathalie Le Dû, Clarisse Baumann, Marie-Line Jacquemont, Céline Dupont, Kada Krabchi, Séverine Drunat, Annie Elbez, Jean-Claude Janaud, Brigitte Benzacken, Alain Verloes, Anne-Claude Tabet and Azzedine Aboura

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32392

  10. Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome

    Clinical Genetics

    Volume 50, Issue 5, November 1996, Pages: 411–416, R. Pallotta, P. Fusilli, T. Ehresmann, R. Cinti, A. Verrotti and G. Morgese

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1996.tb02398.x

  11. Childhood acute lymphoblastic leukemia with equivocal chromosome markers of the t(I;I9) translocation

    Genes, Chromosomes and Cancer

    Volume 13, Issue 2, June 1995, Pages: 99–103, Leonid V. Filatov, Frederick G. Behm, Ching-Hon Pui, David R. Head, James R. Downing and Susana C. Raimondi

    Version of Record online : 14 JUL 2006, DOI: 10.1002/gcc.2870130205

  12. Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), −22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), −22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), −22 [10]

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2048–2053, Hua Hu, Hong Yao, Yanlin Dong, Yang Long, Liang Xu, Bing Hu, Gang Xu and Zhiqing Liang

    Version of Record online : 15 APR 2014, DOI: 10.1002/ajmg.a.36560

  13. Genomic imbalances in CML blast crisis: 8q24.12–q24.13 Segment identified as a common region of over-representation

    Genes, Chromosomes and Cancer

    Volume 37, Issue 4, August 2003, Pages: 346–358, Susan M. Gribble, Alistair G. Reid, Ian Roberts, Colin Grace, Anthony R. Green and Elizabeth P. Nacheva

    Version of Record online : 22 APR 2003, DOI: 10.1002/gcc.10173

  14. Detection of recurrent chromosome abnormalities in Ewing's sarcoma and peripheral neuroectodermal tumor cells using bivariate flow karyotyping

    Genes, Chromosomes and Cancer

    Volume 5, Issue 4, November 1992, Pages: 375–384, Gert A. Boschman, Wim Rens, Erik M. M. Manders, Rosalyn M. Slater, Rogier Versteeg and Jacob A. Aten

    Version of Record online : 14 JUL 2006, DOI: 10.1002/gcc.2870050413

  15. Congenital heart disease in supernumerary der(22), t(11;22) syndrome

    Clinical Genetics

    Volume 29, Issue 4, April 1986, Pages: 269–275, Angela E. Lin, Juan Bernar, Alvin J. Chin, Robert S. Sparkes, Beverly S. Emanuel and Elaine H. Zackai

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1986.tb01254.x

  16. Prenatal Diagnosis of Supernumerary Chromosome Derivative (22) due to Maternal Balanced Translocation in Association with Diaphragmatic Hernia: a Case Report

    Prenatal Diagnosis

    Volume 17, Issue 8, August 1997, Pages: 761–764, R. A. Kadir, R. Hastings and D. L. Economides

    Version of Record online : 28 APR 1999, DOI: 10.1002/(SICI)1097-0223(199708)17:8<761::AID-PD121>3.0.CO;2-A

  17. Genetics of dermatofibrosarcoma protuberans family of tumors: From ring chromosomes to tyrosine kinase inhibitor treatment

    Genes, Chromosomes and Cancer

    Volume 37, Issue 1, May 2003, Pages: 1–19, Nicolas Sirvent, Georges Maire and Florence Pedeutour

    Version of Record online : 11 MAR 2003, DOI: 10.1002/gcc.10202

  18. The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements

    Clinical Genetics

    Volume 78, Issue 4, October 2010, Pages: 299–309, H Kurahashi, H Inagaki, T Ohye, H Kogo, M Tsutsumi, T Kato, M Tong and BS Emanuel

    Version of Record online : 8 APR 2010, DOI: 10.1111/j.1399-0004.2010.01445.x

  19. Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridization

    Clinical Genetics

    Volume 68, Issue 2, August 2005, Pages: 146–151, HFL Mark, H Wyandt, XL Huang and JM Milunsky

    Version of Record online : 11 MAY 2005, DOI: 10.1111/j.1399-0004.2005.00466.x

  20. You have free access to this content
    Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result

    Pediatrics International

    Volume 56, Issue 4, August 2014, Pages: 462–466, Tamae Ohye, Hidehito Inagaki, Takema Kato, Makiko Tsutsumi and Hiroki Kurahashi

    Version of Record online : 24 SEP 2014, DOI: 10.1111/ped.12437