Ute Moog
Department of Clinical Genetics
Academic Hospital Maastricht
Netherlands
Name/email consistency: high
- Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. Moog, U., Jones, M.C., Bird, L.M., Dobyns, W.B. J. Med. Genet. (2005)
- The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes. Moog, U. Am. J. Med. Genet. A (2005)
- Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). Moog, U., Engelen, J.J., Weber, B.W., Van Gelderen, M., Steyaert, J., Baas, F., Sijstermans, H.M., Fryns, J.P. Genet. Couns. (2004)
- Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma. Moog, U., Engelen, J.J., van Schrojenstein Lantman-de Valk, H.M., Driessen, S.D., Fryns, J.P. Clin. Dysmorphol. (2003)
- Acampomelic campomelic syndrome. Moog, U., Jansen, N.J., Scherer, G., Schrander-Stumpel, C.T. Am. J. Med. Genet. (2001)
- Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications. Moog, U., Engelen, J.J., Albrechts, J.C., Baars, L.G., de Die-Smulders, C.E. Am. J. Med. Genet. (2000)
- Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. Moog, U., de Die-Smulders, C.E., Scheffer, H., van der Vlies, P., Henquet, C.J., Jonkman, M.F. Am. J. Med. Genet. (1999)
- Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?. Moog, U., Bleeker-Wagemakers, E.M., Crobach, P., Vles, J.S., Schrander-Stumpel, C.T. Am. J. Med. Genet. (1998)
