Ute Moog

Summary

Affiliation: Maastricht University
Country: The Netherlands

Publications

  1. ncbi request reprint The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes
    Ute 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
  2. ncbi request reprint 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
  3. ncbi request reprint Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients
    U Moog
    Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands
    Am J Med Genet 86:376-9. 1999
  4. pmc Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
    U Moog
    Department of Clinical Genetics, University Hospital Maastricht, Maastricht University, Maastricht, The Netherlands
    J Med Genet 42:913-21. 2005
  5. ncbi request reprint Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications
    U Moog
    Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands
    Am J Med Genet 94:306-10. 2000
  6. ncbi request reprint 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
  7. ncbi request reprint Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma
    Ute Moog
    Department of Clinical Genetics, University Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands
    Clin Dysmorphol 12:35-9. 2003
  8. ncbi request reprint Acampomelic campomelic syndrome
    U Moog
    Department of Clinical Genetics, University of Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands
    Am J Med Genet 104:239-45. 2001
  9. doi request reprint MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
    Suzanna Gerarda Maria Frints
    Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
    Eur J Hum Genet 16:1029-37. 2008
  10. ncbi request reprint Rett syndrome in females with CTS hot spot deletions: a disorder profile
    E Smeets
    Centre of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Med Genet A 132:117-20. 2005

Detail Information

Publications25

  1. ncbi request reprint The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes
    Ute 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...
  2. ncbi request reprint 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...
  3. ncbi request reprint Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients
    U 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...
  4. pmc Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype
    U 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...
  5. ncbi request reprint Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications
    U 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...
  6. ncbi request reprint 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...
  7. ncbi request reprint Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma
    Ute 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)...
  8. ncbi request reprint Acampomelic campomelic syndrome
    U 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...
  9. doi request reprint MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
    Suzanna Gerarda Maria Frints
    Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
    Eur J Hum Genet 16:1029-37. 2008
    ....
  10. ncbi request reprint Rett syndrome in females with CTS hot spot deletions: a disorder profile
    E 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...
  11. ncbi request reprint 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...
  12. ncbi request reprint Subtelomeric chromosome aberrations: still a lot to learn
    U 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...
  13. ncbi request reprint Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype
    J 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...
  14. ncbi request reprint Rett syndrome in adolescent and adult females: clinical and molecular genetic findings
    E 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...
  15. ncbi request reprint Lateral facial clefts: a case report
    C 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...
  16. ncbi request reprint 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...
  17. ncbi request reprint MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients
    Ute 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...
  18. ncbi request reprint 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...
  19. doi request reprint Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene
    Maaike 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...
  20. ncbi request reprint Holoprosencephaly: the Maastricht experience
    U 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...
  21. ncbi request reprint Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations
    U 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...
  22. ncbi request reprint 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...
  23. ncbi request reprint 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...
  24. ncbi request reprint Chromosome bands and ends revisited
    Ute Moog
    Am J Med Genet A 121:88-9. 2003
  25. ncbi request reprint Brain anomalies in encephalocraniocutaneous lipomatosis
    Ute 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...