Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

بواسطة Bürger, J, Buiting, K, Dittrich, B, Gross, S, Lich, C, Sperling, K, Horsthemke, B, Reis, A
منشور في 1997

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

بواسطة Beygo, J., Buiting, K., Seland, S., Lüdecke, H.-J., Hehr, U., Lich, C., Prager, B., Lohmann, D.R., Wieczorek, D.
منشور في 2012

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

بواسطة Horsthemke, B, Maat-Kievit, A, Sleegers, E, van den Ouweland, A, Buiting, K, Lich, C, Mollevanger, P, Beverstock, G, Gillessen-Kaesbach, G, Schwanitz, G
منشور في 1996

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

بواسطة Buiting, K, Dittrich, B, Gross, S, Lich, C, Färber, C, Buchholz, T, Smith, E, Reis, A, Bürger, J, Nöthen, M M, Barth-Witte, U, Janssen, B, Abeliovich, D, Lerer, I, van den Ouweland, A M, Halley, D J, Schrander-Stumpel, C, Smeets, H, Meinecke, P, Malcolm, S, Gardner, A, Lalande, M, Nicholls, R D, Friend, K, Schulze, A, Matthijs, G, Kokkonen, H, Hilbert, P, Van Maldergem, L, Glover, G, Carbonell, P, Willems, P, Gillessen-Kaesbach, G, Horsthemke, B
منشور في 1998