Molecular and Clinical Aspects of Angelman Syndrome

le Dagli, A., Buiting, K., Williams, C.A.
Foilsithe 2012

Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element

le Albrecht, P, Bode, J, Buiting, K, Prashanth, A, Lohmann, D
Foilsithe 2004

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

le Bürger, J, Buiting, K, Dittrich, B, Gross, S, Lich, C, Sperling, K, Horsthemke, B, Reis, A
Foilsithe 1997

Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection

le Ørstavik, K. H., Eiklid, K., van der Hagen, C. B., Spetalen, S., Kierulf, K., Skjeldal, O., Buiting, K.
Foilsithe 2003

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

le Reis, A., Dittrich, B., Greger, V., Buiting, K., Lalande, M., Gillessen-Kaesbach, G., Anvret, M., Horsthemke, B.
Foilsithe 1994

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

le Buiting, K, Greger, V, Brownstein, B H, Mohr, R M, Voiculescu, I, Winterpacht, A, Zabel, B, Horsthemke, B
Foilsithe 1992

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

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

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

le Ohta, T, Buiting, K, Kokkonen, H, McCandless, S, Heeger, S, Leisti, H, Driscoll, D J, Cassidy, S B, Horsthemke, B, Nicholls, R D
Foilsithe 1999

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

le Conroy, J M, Grebe, T A, Becker, L A, Tsuchiya, K, Nicholls, R D, Buiting, K, Horsthemke, B, Cassidy, S B, Schwartz, S
Foilsithe 1997

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

le Saitoh, S, Buiting, K, Rogan, P K, Buxton, J L, Driscoll, D J, Arnemann, J, König, R, Malcolm, S, Horsthemke, B, Nicholls, R D
Foilsithe 1996

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

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

Imprinting-mutation mechanisms in Prader-Willi syndrome.

le Ohta, T, Gray, T A, Rogan, P K, Buiting, K, Gabriel, J M, Saitoh, S, Muralidhar, B, Bilienska, B, Krajewska-Walasek, M, Driscoll, D J, Horsthemke, B, Butler, M G, Nicholls, R D
Foilsithe 1999

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

le 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
Foilsithe 1998