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There are 45076 results for: content related to: Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family

  1. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 894–905, Maria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, Boyan Dimitrov, Gabriele Gillessen-Kaesbach, Jean-Pierre Fryns, Hanne Rose, Liliana Grozdanova, Ivan Ivanov, Kathelijn Keymolen, Christina Fagerberg, Lisbeth Tranebjaerg, Flemming Skovby and Margarita Stefanova

    Article first published online : 10 APR 2009, DOI: 10.1002/ajmg.a.32814

  2. A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 18, 15 September 2008, Pages: 2417–2420, Andreas Roos, Miriam Elbracht, Michael Baudis, Jan Senderek, Nadine Schönherr, Thomas Eggermann and Herdit M. Schüler

    Article first published online : 12 AUG 2008, DOI: 10.1002/ajmg.a.32465

  3. Clinical variability of Waardenburg–Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2290–2295, Beyhan Tüysüz, Anna Collin, Müjde Arapoğlu and Nezir Suyugül

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.33031

  4. Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1190–1194, Isabel López-Expósito, Juan Antonio Bafalliu, Mónica Santos, Carme Fuster, Alberto Puche-Mira and Encarna Guillén-Navarro

    Article first published online : 3 APR 2008, DOI: 10.1002/ajmg.a.32187

  5. An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 20, 15 October 2007, Pages: 2452–2459, Art Daniel, Artur Darmanian, Greg Peters, Linda Goodwin and Jason R. Hort

    Article first published online : 12 SEP 2007, DOI: 10.1002/ajmg.a.31960

  6. Balanced complex chromosome rearrangements: Reproductive aspects. A review

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 947–963, Kamlesh Madan

    Article first published online : 1 MAR 2012, DOI: 10.1002/ajmg.a.35220

  7. Loss of heterozygosity at 13q14 and 13q21 in high grade, high stage prostate cancer

    The Prostate

    Volume 49, Issue 3, 1 November 2001, Pages: 166–171, Jin-Tang Dong, James C. Boyd and Henry F. Frierson Jr.

    Article first published online : 25 OCT 2001, DOI: 10.1002/pros.1131

  8. You have full text access to this Open Access content
    Localization in man of fifteen DNA sequences within the chromosome segment 13q12-q22

    Hereditas

    Volume 110, Issue 3, June 1989, Pages: 253–265, KRISTINA ARHEDEN, UMADEVI TANTRAVAHI, NIELS TOMMERUP, LISBETH TRANEBJAERG and FELIX MITELMAN

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1601-5223.1989.tb00787.x

  9. Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 2, 1 March 2005, Pages: 151–157, David J. Amor, Lucille Voullaire, Karen Bentley, Ravi Savarirayan and K.H. Andy Choo

    Article first published online : 21 JAN 2005, DOI: 10.1002/ajmg.a.30527

  10. Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 894–900, Véronique Haddad, Azzedine Aboura, Lucie Tosca, Narjes Guediche, Anne-Elisabeth Mas, Aurore Coulomb L'Herminé, Luc Druart, Olivier Picone, Sophie Brisset and Gérard Tachdjian

    Article first published online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35258

  11. Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break

    American Journal of Medical Genetics

    Volume 85, Issue 4, 6 August 1999, Pages: 385–388, H. Rivera, A.I. Vasquez, D. García-Cruz and J.A. Crolla

    Article first published online : 8 JUL 1999, DOI: 10.1002/(SICI)1096-8628(19990806)85:4<385::AID-AJMG15>3.0.CO;2-P

  12. Characterization of a familial balanced rec(13) in a child with mild MR and his half-sibling with two structurally rearranged chromosomes 13

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 2, 30 August 2005, Pages: 217–221, S. Mehra, L. Christ, L. Jeng, A. B. Zinn and S. Schwartz

    Article first published online : 29 JUL 2005, DOI: 10.1002/ajmg.a.30866

  13. Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

    American Journal of Medical Genetics

    Volume 77, Issue 4, 26 May 1998, Pages: 285–288, Brenda J. Weigel, Mary Ella M. Pierpont, Terri L. Young, Scott B. Mutchler and Joseph P. Neglia

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980526)77:4<285::AID-AJMG7>3.0.CO;2-M

  14. Is Dandy–Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 265–268, Yasemin Alanay, Dilek Aktaş, Eda Utine, Beril Talim, Lütfü Önderoğlu, Melda Çağlar and Ergül Tunçbilek

    Article first published online : 9 JUN 2005, DOI: 10.1002/ajmg.a.30808

  15. Allelotyping analysis at chromosome 13q of high-grade prostatic intraepithelial neoplasia and clinically insignificant and significant prostate cancers

    The Prostate

    Volume 66, Issue 4, 1 March 2006, Pages: 405–412, Wei Lu, Hiroyuki Takahashi, Masakuni Furusato, Suguru Maekawa, Masataka Nakano, Chenxi Meng, Yasushi Kikuchi, Akemi Sudo and Hiroshi Hano

    Article first published online : 21 NOV 2005, DOI: 10.1002/pros.20363

  16. Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 906–913, Francesca R. Grati, Marci M. Lesperance, Simona De Toffol, Sara Chinetti, Angelo Selicorni, Sarah Emery, Beatrice Grimi, Francesca Dulcetti, Barbara Malvestiti, Joseph Taylor, Silvia Milani, Anna M. Ruggeri, Federico Maggi and Giuseppe Simoni

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32754

  17. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 19, 1 October 2008, Pages: 2480–2489, Zhishuo Ou, Donna M. Martin, Jirair K. Bedoyan, M. Lance Cooper, A. Craig Chinault, Pawel Stankiewicz and Sau W. Cheung

    Article first published online : 29 JUL 2008, DOI: 10.1002/ajmg.a.32398

  18. Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

    American Journal of Medical Genetics

    Volume 102, Issue 3, 15 August 2001, Pages: 231–236, Alan Shanske, Jose C. Ferreira, Jay C. Leonard, Peter Fuller and Robert W. Marion

    Article first published online : 21 JUN 2001, DOI: 10.1002/ajmg.1451

  19. Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas

    Clinical Genetics

    Volume 15, Issue 4, April 1979, Pages: 332–345, Vincent M. Riccardi, Helen Mintz Hittner, Uta Francke, Susan Pippjn, Gerald P. Holmquist, Frank L. Kretzer and Robert Ferrell

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1979.tb01743.x

  20. Partial trisomy 13q22[RIGHTWARDS ARROW]qter and monosomy 18q21[RIGHTWARDS ARROW]qter as a result of familial translocation

    Acta Paediatrica

    Volume 88, Issue 6, June 1999, Pages: 675–678, S Čekada, S Kilvain, B Brajenović-Milić, L Brečević, E Kirinčić-Paučić and J Franulović

    Article first published online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.1999.tb00022.x