Konrad Oexle

Summary

Affiliation: Klinikum rechts der Isar
Country: Germany

Publications

  1. pmc Dilution of candidates: the case of iron-related genes in restless legs syndrome
    Konrad Oexle
    Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
    Eur J Hum Genet 21:410-4. 2013
  2. doi request reprint Three-generational alkaptonuria in a non-consanguineous family
    K Oexle
    Institute of Human Genetics, Technical University Munich, Trogerstr 32, D 81675, Munchen, Germany
    J Inherit Metab Dis 31:S425-30. 2008
  3. doi request reprint A remark on rare variants
    Konrad Oexle
    Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
    J Hum Genet 55:219-26. 2010
  4. pmc Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels
    Konrad Oexle
    Institute of Human Genetics, MRI, Technische Universitat Munchen, Munich, Germany
    Hum Mol Genet 20:1042-7. 2011
  5. doi request reprint 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome
    Konrad Oexle
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    Eur J Med Genet 54:225-30. 2011
  6. doi request reprint Sampling GWAS subjects from risk populations
    Konrad Oexle
    Institute of Human Genetics, Klinikum rechts der Isar, TU Munchen, Munich, Germany
    Genet Epidemiol 35:148-53. 2011
  7. pmc MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease
    Barbara Schormair
    Institute of Human Genetics, Helmholtz Zentrum München e German Research Center for Environmental Health, Neuherberg, Germany
    J Med Genet 48:462-6. 2011
  8. pmc Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
    Monika B Hartig
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    Am J Hum Genet 89:543-50. 2011
  9. doi request reprint Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2
    Nabeel J M Salem
    Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat, Munchen, Germany
    Am J Med Genet A 161:1421-4. 2013
  10. pmc Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg, Germany
    BMC Neurol 11:134. 2011

Collaborators

Detail Information

Publications12

  1. pmc Dilution of candidates: the case of iron-related genes in restless legs syndrome
    Konrad Oexle
    Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
    Eur J Hum Genet 21:410-4. 2013
    ..Moreover, in a general power analysis, we show that genetic effects are diluted if they are transmitted via an intermediate trait to an end-phenotype. Sample size formulas are provided for small effect sizes...
  2. doi request reprint Three-generational alkaptonuria in a non-consanguineous family
    K Oexle
    Institute of Human Genetics, Technical University Munich, Trogerstr 32, D 81675, Munchen, Germany
    J Inherit Metab Dis 31:S425-30. 2008
    ..A dominant pattern of inheritance has been reported but was attributed to extended consanguinity in many cases. However, we have observed a non-consanguineous family segregating AKU in a dominant manner over three generations...
  3. doi request reprint A remark on rare variants
    Konrad Oexle
    Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
    J Hum Genet 55:219-26. 2010
    ..It turns out that, although the majority of contributing variants is not accessible with realistic sample sizes, a minimum of sample size may be given for moderately strong variants in the 1% frequency range...
  4. pmc Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels
    Konrad Oexle
    Institute of Human Genetics, MRI, Technische Universitat Munchen, Munich, Germany
    Hum Mol Genet 20:1042-7. 2011
    ....
  5. doi request reprint 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome
    Konrad Oexle
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    Eur J Med Genet 54:225-30. 2011
    ..1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed...
  6. doi request reprint Sampling GWAS subjects from risk populations
    Konrad Oexle
    Institute of Human Genetics, Klinikum rechts der Isar, TU Munchen, Munich, Germany
    Genet Epidemiol 35:148-53. 2011
    ..A strategy of GWAS sample collection from risk populations minimizing the necessary sample sizes may thus be deduced that generally applies as long as strong gene-environment interactions can be excluded...
  7. pmc MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease
    Barbara Schormair
    Institute of Human Genetics, Helmholtz Zentrum München e German Research Center for Environmental Health, Neuherberg, Germany
    J Med Genet 48:462-6. 2011
    ..For idiopathic RLS (iRLS), genetic risk factors have been identified, but their role in RLS in ESRD has not been investigated yet. Therefore, a case-control association study of these variants in ESRD patients was performed...
  8. pmc Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation
    Monika B Hartig
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    Am J Hum Genet 89:543-50. 2011
    ..The mitochondrial localization together with the immunohistopathological findings suggests a pathomechanistic overlap with common forms of neurodegenerative disorders...
  9. doi request reprint Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2
    Nabeel J M Salem
    Institute of Human Genetics, Klinikum rechts der Isar, Technische Universitat, Munchen, Germany
    Am J Med Genet A 161:1421-4. 2013
    ..32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia...
  10. pmc Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
    Franziska Hopfner
    Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg, Germany
    BMC Neurol 11:134. 2011
    ..To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features...
  11. doi request reprint Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome
    Walter Bonfig
    Technische Universitat Munchen, Munchen, Germany
    J Pediatr Endocrinol Metab 25:991-5. 2012
    ..Growth hormone (GH) deficiency may occur in Turner syndrome (TS), but infantile hypoglycemia attributable to TS with GH deficiency has not been reported before...
  12. doi request reprint Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy
    Christian Jaklin
    Institut fur Humangenetik, Klinikum rechts der Isar, TU Munchen, Trogerstr 32, 81675 Munchen, Germany
    Eur J Med Genet 55:568-72. 2012
    ..Counseling problems implicated by this prediction include "the right not to know" that the patient might want to exercise when coming of age...