Research Topics
Species | Ute MoogSummaryAffiliation: Maastricht University Country: The Netherlands Publications
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Detail Information
Publications
The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causesUte Moog
Department of Clinical Genetics, University Hospital Maastricht, PO Box 5000, 6202 AZ Maastricht, The Netherlands
Am J Med Genet A 137:228-31. 2005..The method allows identification of patients which need follow-up and reconsideration of their cases...- Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?U Moog
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
Am J Med Genet 78:263-6. 1998..The differential diagnosis is discussed. Of the known syndromes associated with Axenfeld-Rieger anomaly, none could be convincingly applied to the propositae. Possibly, they represent a previously unreported autosomal recessive syndrome... - Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patientsU Moog
Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands
Am J Med Genet 86:376-9. 1999..In all of them, mutation analysis of the KRT5 gene showed the P24L mutation. So far, other mutations in the same or in other genes have not been reported in patients with EBS-MP... - Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotypeU Moog
Department of Clinical Genetics, University Hospital Maastricht, Maastricht University, Maastricht, The Netherlands
J Med Genet 42:913-21. 2005..The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderance of males... - Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplicationsU Moog
Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands
Am J Med Genet 94:306-10. 2000..The reported aberration is compared with other partial duplications of 8p, in particular to inversion duplications 8p and to small direct distal duplications involving 8p23.1. Am. J. Med. Genet. 94:306-310, 2000... - Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12)U Moog
Department of Clinical Genetics, Research Institute Growth and Development GROW, Maastricht University, Maastricht, The Netherlands
Genet Couns 15:73-80. 2004..A recognizable facial phenotype emerges characterized by a broad forehead, hypertelorism, downslant of palpebral fissures, smooth philtrum, thin upper lip and ear anomalies... - Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris colobomaUte Moog
Department of Clinical Genetics, University Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands
Clin Dysmorphol 12:35-9. 2003..The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34)... - Acampomelic campomelic syndromeU Moog
Department of Clinical Genetics, University of Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands
Am J Med Genet 104:239-45. 2001..Although up to now a general genotype-phenotype correlation could not be established for CD, a correlation emerges for the ACD variant that needs further confirmation... - MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints
Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
Eur J Hum Genet 16:1029-37. 2008.... - Rett syndrome in females with CTS hot spot deletions: a disorder profileE Smeets
Centre of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Am J Med Genet A 132:117-20. 2005..The delineation of disorder profiles by long-term clinical observation can teach us about genotype/phenotype relationships and eventually about the effect of epigenetic phenomena on the final phenotype... - Chemotherapy resistant ovarian cancer in carriers of an hMSH2 mutation?C L Marcelis
Department of Clinical Genetics, University Hospital Maastricht, P O Box 1475, 6201 BL Maastricht, The Netherlands
Fam Cancer 1:107-9. 2001..The possible implications for the therapy of ovarian cancer, the screening and genetic counselling of family members are discussed... - Subtelomeric chromosome aberrations: still a lot to learnU Moog
Department of Clinical Genetics, University Hospital Maastricht, The Netherlands
Clin Genet 68:397-407. 2005..Factors complicating the interpretation of subtelomeric rearrangements are discussed, such as the occurrence of variants, clinical variability, and limited knowledge of the phenotype... - Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotypeJ J M Engelen
Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands
Am J Med Genet A 119:356-9. 2003..He showed craniofacial asymmetry but no other anomalies. The clinical and cytogenetic findings are compared with previously reported patients with a terminal or interstitial deletion in the long arm of chromosome 18... - Rett syndrome in adolescent and adult females: clinical and molecular genetic findingsE Smeets
Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
Am J Med Genet A 122:227-33. 2003..Knowledge of the clinical phenotype of RTT at an adult age is important for all involved in the care of these individuals. The involvement of the parent support group is very important in this matter... - Lateral facial clefts: a case reportC E de Die-Smulders
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands
Genet Couns 12:163-5. 2001..The unique combination of facial anomalies, present in this patient, has not been reported before. We discuss the differential diagnosis and the classification of facial clefts... - Duplication of chromosome region 8p23.1-->p23.3: a benign variant?J J Engelen
Department of Molecular Cell Biology and Genetics, University Maastricht, The Netherlands
Am J Med Genet 91:18-21. 2000..There was no history of miscarriages. We suggest that duplication of region 8p23.1-->p23.3 can be regarded as euchromatic variant or duplication with no phenotypic effect... - MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patientsUte Moog
Department of Clinical Genetics, University Hospital Maastricht, P O Box 5800, 6202 AZ Maastricht, The Netherlands
Brain Dev 28:305-10. 2006..Based on the literature, MECP2 testing in males with MR only is debatable... - Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?Ute Moog
Department of Clinical Genetics, University Hospital Maastricht, P O Box 5800, 6202 AZ Maastricht, The Netherlands
Am J Med Genet C Semin Med Genet 145:293-301. 2007..Even in absence of knowledge of the history of an elderly patient with MR, the presence of behavioral problems should prompt metabolic investigation for MPS... - Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 geneMaaike Vreeburg
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
Int J Dermatol 47:52-5. 2008..Here we describe a family with classical lymphedema-distichiasis syndrome caused by a duplication in the FOXC2-gene... - Holoprosencephaly: the Maastricht experienceU Moog
Department of Clinical Genetics, and Maastricht University, The Netherlands
Genet Couns 12:287-98. 2001..The mildest affected patient presented with microcephaly and a single maxillary incisor; she had a submicroscopic 7q deletion. Finally, we propose a protocol of etiological work-up of HPE cases... - Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerationsU Moog
Department of Molecular Cell Biology and Genetics, University of Limburg, Maastricht, The Netherlands
Genet Couns 7:257-65. 1996..Encephalocraniocutaneous lipomatosis, focal dermal hypoplasia and microphthalmia with linear skin defects (MLS) syndrome are discussed as the most important differential diagnostic entities... - Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)Ute Moog
Department of Clinical Genetics, University Hospital, Maastricht, The Netherlands
Eur J Paediatr Neurol 7:5-12. 2003..He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed... - Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?Ute Moog
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 143:2973-80. 2007..We hypothesize that ECCL may be caused by mosaicism for a mutated gene involved in benign mesenchymal tumors and in vasculogenesis... - Chromosome bands and ends revisitedUte Moog
Am J Med Genet A 121:88-9. 2003 - Brain anomalies in encephalocraniocutaneous lipomatosisUte Moog
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
Am J Med Genet A 143:2963-72. 2007..These data provide evidence that the brain anomalies in ECCL are not primary brain malformations but arise secondary to a mesenchymal defect affecting mostly neural crest derivatives...