Molecular and Clinical Aspects of Angelman Syndrome

Por Dagli, A., Buiting, K., Williams, C.A.
Publicado em 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

Por Albrecht, P, Bode, J, Buiting, K, Prashanth, A, Lohmann, D
Publicado em 2004

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

Por Bürger, J, Buiting, K, Dittrich, B, Gross, S, Lich, C, Sperling, K, Horsthemke, B, Reis, A
Publicado em 1997

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

Por Ørstavik, K. H., Eiklid, K., van der Hagen, C. B., Spetalen, S., Kierulf, K., Skjeldal, O., Buiting, K.
Publicado em 2003

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

Por Reis, A., Dittrich, B., Greger, V., Buiting, K., Lalande, M., Gillessen-Kaesbach, G., Anvret, M., Horsthemke, B.
Publicado em 1994

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

Por Buiting, K, Greger, V, Brownstein, B H, Mohr, R M, Voiculescu, I, Winterpacht, A, Zabel, B, Horsthemke, B
Publicado em 1992

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

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

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

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

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

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

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

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

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

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

Imprinting-mutation mechanisms in Prader-Willi syndrome.

Por 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
Publicado em 1999

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

Por 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
Publicado em 1998