User menu

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1

Bibliographic reference Bloch, Mercedes ; Leonard, Anissa ; Diplas, Andreas ; Pepermans, Xavier ; Emanuel, Beverly S ; et. al. Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1. In: American Journal of Medical Genetics. Part A, Vol. 164, no.7, p. 1789-1794 (2014)
Permanent URL
  1. Celli Jacopo, van Beusekom Ellen, Hennekam Raoul C.M., Gallardo M. Esther, Smeets Dominique F.C.M., de Córdoba Santiago Rodríguez, Innis Jeffrey W., Frydman Moshe, König Rainer, Kingston Helen, Tolmie John, Govaerts Lutgarde C.P., van Bokhoven Hans, Brunner Han G., Familial Syndromic Esophageal Atresia Maps to 2p23-p24, 10.1086/302779
  2. Emanuel B. S., Zackai E. H., Van Dyke D. C., Swallow D. M., Allen F. H., Mellman W. J., Francke Uta, Deletion mapping: Further evidence for the location of acid phosphatase (ACP1) within 2p23, 10.1002/ajmg.1320040209
  3. Francis G L, Flannery D B, Byrd J R, Fisher S T, An apparent de novo terminal deletion of chromosome 2 (pter----p24:)., 10.1136/jmg.27.2.137
  4. Neidich Julie, Zackai Elaine, Aronson Margaret, Emanuel Beverly S., Opitz John M., Reynolds James F., Deletion of 2p: A cytogenetic and clinical update, 10.1002/ajmg.1320270326
  5. Penchaszadeh Victor B., Dowling Patricia K., Davis Jessica G., Schmidt Rina, Wapnir Raul A., Opitz John M., Reynolds James F., Interstitial deletion of chromosome 2 (p23p25), 10.1002/ajmg.1320270325
  6. Rocca Maria Santa, Faletra Flavio, Devescovi Raffaella, Gasparini Paolo, Pecile Vanna, Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism, 10.1016/j.ejmg.2012.10.008
  7. Romand R., Hirning-Folz U., Ehret G., N-myc expression in the embryonic cochlea of the mouse, 10.1016/0378-5955(94)90205-4
  8. Saal Howard M., King Lora J., Zimmerman Donna, Johnson Robert C., Carr Ann G., Samango-Sprouse Carole A., Stanley Wayne, Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2, 10.1002/(sici)1096-8628(19961230)66:4<373::aid-ajmg1>;2-m
  9. Shoukier Moneef, Schröder Julia, Zoll Barbara, Burfeind Peter, Freiberg Clemens, Klinge Lars, Kriebel Thomas, Lingen Michael, Mohr Alexander, Brockmann Knut, A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy, 10.1002/ajmg.a.34427
  10. Su Pen-Hua, Chen Jia-Yuh, Tsao Teng-Fu, Chen Suh-Jen, De Novo Interstitial Deletion of Chromosome 2 (p23p24), 10.1016/j.pedneo.2010.12.001
  11. van Bokhoven Hans, Celli Jacopo, van Reeuwijk Jeroen, Rinne Tuula, Glaudemans Bob, van Beusekom Ellen, Rieu Paul, Newbury-Ecob Ruth A, Chiang Chin, Brunner Han G, MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome, 10.1038/ng1546