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There are 10536 results for: content related to: 1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype

  1. Mirror duplication of chromosome 21 with complete phenotype of Down syndrome

    Pediatrics International

    Volume 50, Issue 4, August 2008, Pages: 597–599, Masanori Egashira, 1 Tatsuro Kondoh, 1 Hiroki Kawara, 2 Hideki Motomura, 1 Masato Tagawa, 1 Naoki Harada and 24 Hiroyuki Moriuchi 1

    Article first published online : 25 AUG 2008, DOI: 10.1111/j.1442-200X.2008.02680.x

  2. Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion

    Prenatal Diagnosis

    Volume 23, Issue 9, September 2003, Pages: 758–761, Chih-Ping Chen, Schu-Rern Chern, Chen-Chi Lee, Li-Feng Chen, Daniel T. H. Chin, Chin-Yuan Tzen and Wayseen Wang

    Article first published online : 2 SEP 2003, DOI: 10.1002/pd.684

  3. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32[RIGHTWARDS ARROW]qter) and partial monosomy 21q (21q22.2[RIGHTWARDS ARROW]qter)

    Prenatal Diagnosis

    Volume 26, Issue 4, April 2006, Pages: 313–320, Chih-Ping Chen, Schu-Rern Chern, Chyi-Chyang Lin, Tzu-Hao Wang, Yueh-Chun Li, Lie-Jiau Hsieh, Chen-Chi Lee, Hui-Min Hua and Wayseen Wang

    Article first published online : 28 FEB 2006, DOI: 10.1002/pd.1399

  4. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 3, 15 December 2004, Pages: 265–372, Daniela Ehling, Ingo Kennerknecht, Annelore Junge, Bettina Prager, Rita Exeler, Beate Behre, Juergen Horst, Thomas Schmitt-John, Oliver Bartsch and Jutta Wirth

    Article first published online : 8 NOV 2004, DOI: 10.1002/ajmg.a.30361

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    Hypoplastic left heart syndrome and 21q22.3 deletion

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 579–586, Laura Ciocca, M. Cristina Digilio, Antonietta Lombardo, Gemma D'Elia, Anwar Baban, Rossella Capolino, Stefano Petrocchi, Serena Russo, Pietro Sirleto, M. Cristina Roberti, Bruno Marino, Adriano Angioni and Bruno Dallapiccola

    Article first published online : 7 FEB 2015, DOI: 10.1002/ajmg.a.36914

  6. A follow-up linkage study supports evidence for a bipolar affective disorder locus on chromosome 21q22

    American Journal of Medical Genetics

    Volume 105, Issue 2, 8 March 2001, Pages: 189–194, Jianjun Liu, Suh Hang Juo, Joseph D. Terwilliger, Adina Grunn, Xiaomei Tong, Miguel Brito, Jo Ellen Loth, Kyra Kanyas, Bernard Lerer, Jean Endicott, Graciela Penchaszadeh, Dr. T. Conrad Gilliam and Dr. Miron Baron

    Article first published online : 11 APR 2001, DOI: 10.1002/ajmg.1195

  7. Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family

    American Journal of Medical Genetics

    Volume 92, Issue 5, 19 June 2000, Pages: 311–317, Stephen R. Braddock, Kimberly M. Henley, Karen L. Potter, Hieu G. Nguyen and Tim Hui-Ming Huang

    Article first published online : 8 JUN 2000, DOI: 10.1002/1096-8628(20000619)92:5<311::AID-AJMG4>3.0.CO;2-7

  8. A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 124–127, Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga, Norio Niikawa and Koh-ichiro Yoshiura

    Article first published online : 11 DEC 2007, DOI: 10.1002/ajmg.a.31974

  9. Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: Implication for ring chromosome formation

    American Journal of Medical Genetics

    Volume 110, Issue 4, 15 July 2002, Pages: 332–337, Koji Muroya, Keiichi Yamamoto, Yoshimitsu Fukushima and Tsutomu Ogata

    Article first published online : 24 MAY 2002, DOI: 10.1002/ajmg.10466

  10. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: Data from United States and Canadian laboratories

    American Journal of Medical Genetics

    Volume 33, Issue 1, May 1989, Pages: 14–53, Dr. Art Daniel, Ernest B. Hook and Gary Wulf

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320330105

  11. Microdeletion of the Down syndrome critical region at 21q22

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 950–953, Hideki Fujita, Chiharu Torii, Rika Kosaki, Shinya Yamaguchi, Jun Kudoh, Kumiko Hayashi, Takao Takahashi and Kenjiro Kosaki

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33228

  12. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Article first published online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  13. Transient myeloproliferative disorder with partial trisomy 21

    Pediatric Blood & Cancer

    Volume 62, Issue 11, November 2015, Pages: 2021–2024, Takahide Takahashi, Akira Inoue, Junko Yoshimoto, Kiichiro Kanamitsu, Tomohiko Taki, Masahide Imada, Mutsuko Yamada, Shinsuke Ninomiya, Tsutomu Toki, Kiminori Terui, Etsuro Ito and Akira Shimada

    Article first published online : 1 JUL 2015, DOI: 10.1002/pbc.25624

  14. Prenatal diagnosis of partial monosomy 18p(18p11.2[RIGHTWARDS ARROW]pter) and trisomy 21q(21q22.3[RIGHTWARDS ARROW]qter) with alobar holoprosencephaly and premaxillary agenesis

    Prenatal Diagnosis

    Volume 21, Issue 5, May 2001, Pages: 346–350, Chih-Ping Chen, Schu-Rern Chern, Wayseen Wang, Chen-Chi Lee, Wen-Lin Chen, Li-Feng Chen, Tung-Yao Chang and Chin-Yuan Tzen

    Article first published online : 10 APR 2001, DOI: 10.1002/pd.63

  15. Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes

    American Journal of Medical Genetics

    Volume 33, Issue 3, July 1989, Pages: 369–375, Margaret L. Van Keuren, Gordon D. Stewart, Cynthia M. Bradley, David M. Kurnit, Rachael L. Neve, Paul C. Watkins, Rudolph E. Tanzi, James F. Gusella and David Patterson

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320330316

  16. Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 52, Issue 2, February 2013, Pages: 202–213, Halima Al-Shehhi, Zoe J. Konn, Claire J. Schwab, Amy Erhorn, Kerry E. Barber, Sarah L. Wright, Alem S. Gabriel, Christine J. Harrison and Anthony V. Moorman

    Article first published online : 18 OCT 2012, DOI: 10.1002/gcc.22021

  17. 21q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: Report from an International Workshop

    Genes, Chromosomes and Cancer

    Volume 33, Issue 4, April 2002, Pages: 379–394, Marilyn L. Slovak, Victoria Bedell, Leslie Popplewell, Daniel A. Arber, Claudia Schoch and Rosalyn Slater

    Article first published online : 31 DEC 2001, DOI: 10.1002/gcc.10042

  18. Nonparametric simulation-based statistical analyses for bipolar affective disorder locus on chromosome 21q22.3

    American Journal of Medical Genetics

    Volume 88, Issue 1, 5 February 1999, Pages: 99–102, John B.J. Kwok, Linda J. Adams, Judy A. Salmon, Jennifer A. Donald, Philip B. Mitchell and Peter R. Schofield

    Article first published online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19990205)88:1<99::AID-AJMG18>3.0.CO;2-9

  19. Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation

    American Journal of Medical Genetics

    Volume 107, Issue 4, 1 February 2002, Pages: 330–333, Milen Velinov, Hong Gu, Keame Yeboa, Dorothy Warburton, Taknida Tubo, Sarita Dhuper, Stuart Lanter, Doreen Delprino, Gabriel Kupchik and Edmund C. Jenkins

    Article first published online : 13 DEC 2001, DOI: 10.1002/ajmg.10140

  20. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 1021–1028, Ryoko Fukai, Yoko Hiraki, Gen Nishimura, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36377