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Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

Bibliographic reference Blassnig-Ezeh, Anya ; Bandelier, Claude ; Frühmesser, Anne ; Revencu, Nicole ; Krabichler, Birgit ; et. al. Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22. In: American journal of medical genetics. Part A, Vol. 161A, no. 12, p. 3176-3181 (2013)
Permanent URL http://hdl.handle.net/2078.1/143245
  1. Aviram-Goldring Ayala, Fritz Barbara, Bartsch Christine, Steuber Elke, Daniely Michal, Lev Dorit, Chaki Rina, Barkai Gad, Frydman Moshe, Rehder Helga, Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue, 10.1002/(sici)1096-8628(20000306)91:1<74::aid-ajmg14>3.0.co;2-o
  2. Saltiel Alan R., Baumann Christian A., Ribon Vered, Kanzaki Makoto, Thurmond Debbie C., Mora Silvia, Shigematsu Satoshi, Bickel Perry E., Pessin Jeffrey E., 10.1038/35025089
  3. Chiang Shian-Huey, Baumann Christian A., Kanzaki Makoto, Thurmond Debbie C., Watson Robert T., Neudauer Cheryl L., Macara Ian G., Pessin Jeffrey E., Saltiel Alan R., Insulin-stimulated GLUT4 translocation requires the CAP-dependent activation of TC10, 10.1038/35073608
  4. Dupraz S., Grassi D., Bernis M. E., Sosa L., Bisbal M., Gastaldi L., Jausoro I., Caceres A., Pfenninger K. H., Quiroga S., The TC10-Exo70 Complex Is Essential for Membrane Expansion and Axonal Specification in Developing Neurons, 10.1523/jneurosci.3907-09.2009
  5. Guilherme Romain, Guimiot Fabien, Tabet Anne-Claude, Khung-Savatovsky Suonavy, Gauthier Evelyne, Nouchy Marc, Benzacken Brigitte, Verloes Alain, Oury Jean-François, Delezoide Anne-Lise, Aboura Azzedine, Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication, 10.1002/ajmg.a.33135
  6. Hu C.-J., Wang L.-Y., Chodosh L. A., Keith B., Simon M. C., Differential Roles of Hypoxia-Inducible Factor 1  (HIF-1 ) and HIF-2  in Hypoxic Gene Regulation, 10.1128/mcb.23.24.9361-9374.2003
  7. Kasnauskiene J., Cimbalistiene L., Utkus A., Ciuladaite Z., Preiksaitiene E., Peciulyte A., Kucinskas V., Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis, 10.1159/000342544
  8. Kubo T, Kakinuma H, Nakamura T, Kitatani M, Ozaki M, Takahashi H, Infantile spasms in a patient with partial duplication of chromosome 2p, 10.1034/j.1399-0004.1999.560114.x
  9. Lurie Iosif W., Ilyina Helena G., Gurevich Dora B., Rumyantseva Natalja V., Naumchik Irena V., Castellan Claudio, Hoeller Adelheid, Schinzel Albert, Trisomy 2p: Analysis of unusual phenotypic findings, 10.1002/ajmg.1320550216
  10. Magee A. C., Humphreys M. W., McKee S., Stewart M., Nevin N. C., De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2, 10.1111/j.1399-0004.1998.tb03696.x
  11. Megarbane A, Souraty N, Prieur M, Theophile D, Chedid P, Auge J, Vekemans M, Interstitial duplication of the short arm of chromosome 2: report of a new case and review., 10.1136/jmg.34.9.783
  12. Parruti, Ann Genet, 32, 55 (1989)
  13. Patel S A, Simon M C, Biology of hypoxia-inducible factor-2α in development and disease, 10.1038/cdd.2008.17
  14. Ryu J-H, Shin Y, Huh Y H, Yang S, Chun C-H, Chun J-S, Hypoxia-inducible factor-2α regulates Fas-mediated chondrocyte apoptosis during osteoarthritic cartilage destruction, 10.1038/cdd.2011.111
  15. Saito Taku, Fukai Atsushi, Mabuchi Akihiko, Ikeda Toshiyuki, Yano Fumiko, Ohba Shinsuke, Nishida Nao, Akune Toru, Yoshimura Noriko, Nakagawa Takumi, Nakamura Kozo, Tokunaga Katsushi, Chung Ung-il, Kawaguchi Hiroshi, Transcriptional regulation of endochondral ossification by HIF-2α during skeletal growth and osteoarthritis development, 10.1038/nm.2146
  16. Sawyer Jeffrey R., Jones Emmett, Hawks Flora F., Quirk J. Gerald, Cunniff Christopher, Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15), 10.1002/ajmg.1320490414
  17. Thangavelu Maya, Frolich Gary, Rogers David, Partial duplication 2p as the sole abnormality in two cases with anencephaly, 10.1002/ajmg.a.20322
  18. Winsor Stephanie H. M., McGrath Michael J., Khalifa Mohamed, Duncan Alessandra M. V., A report of recurrent anencephaly with trisomy 2p23-2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis, 10.1002/(sici)1097-0223(199707)17:7<665::aid-pd112>3.0.co;2-9