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Number of items: 12.

Hoischen, A; van Bon, B W M; Rodríguez-Santiago, B; Gilissen, C; Vissers, L E L M; de Vries, P; Janssen, I; van Lier, B; Hastings, R; Smithson, S F; Newbury-Ecob, R; Kjaergaard, S; Goodship, J; McGowan, R; Bartholdi, D; Rauch, A; Peippo, M; Cobben, J M; Wieczorek, D; Gillessen-Kaesbach, G; Veltman, J A; Brunner, H G; de Vries, B B B A (2011). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics, 43(8):729-731.

Steiner, B; Bartholdi, D (2010). Medizinische Genetik: Geld, Geist und Gene. Swiss Medical Forum, 10(1-2):8-10.

Valencia, M; Lapunzina, P; Lim, D; Zannolli, R; Bartholdi, D; Wollnik, B; Al-Ajlouni, O; Eid, S S; Cox, H; Buoni, S; Hayek, J; Martinez-Frias, M L; Perez-Aytes, A; Temtamy, S; Aglan, M; Goodship, J A; Ruiz-Perez, V L (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30(12):1667-1675.

Hilton, E; Johnston, J; Whalen, S; Okamoto, N; Hatsukawa, Y; Nishio, J; Kohara, H; Hirano, Y; Mizuno, S; Torii, C; Kosaki, K; Manouvrier, S; Boute, O; Perveen, R; Law, C; Moore, A; Fitzpatrick, D; Lemke, J; Fellmann, F; Debray, F G; Dastot-Le-Moal, F; Gerard, M; Martin, J; Bitoun, P; Goossens, M; Verloes, A; Schinzel, A; Bartholdi, D; Bardakjian, T; Hay, B; Jenny, K; Johnston, K; Lyons, M; Belmont, J W; Biesecker, L G; Giurgea, I; Black, G (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17(10):1325-1335.

Bartholdi, D; Krajewska-Walasek, M; Ounap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46(3):192-197.

Bartholdi, D; Toelle, S P; Steiner, B; Boltshauser, E; Schinzel, A; Riegel, M (2008). Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. European Journal of Medical Genetics, 51(2):113-123.

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

Bartholdi, D. Epigenetic etiology of rare, complex syndromes: The examples of Rett, Rubinstein-Taybi and Prader-Willi syndrome. 2008, University of Zurich, Faculty of Medicine.

Poretti, A; Bartholdi, D; Gobara, S; Alber, F D; Boltshauser, E (2008). Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. European Journal of Medical Genetics, 51(3):197-208.

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Kloeckener-Gruissem, B; Bartholdi, D; Abdou, M T; Zimmermann, D R; Berger, W (2006). Identification of the genetic defect in the original Wagner syndrome family. Molecular Vision, (12):350-355.

Bartholdi, D; Zumsteg, D; Verrips, A; Wevers, R A; Sistermans, E; Hess, K; Jung, H H (2004). Spinal phenotype of cerebrotendinous xanthomatosis. Journal of Neurology, 251(1):105-107.

This list was generated on Sun Jun 16 21:48:32 2019 CEST.