Iris Bartels

Summary

Country: Germany

Publications

  1. doi request reprint Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p
    Iris Bartels
    Institute of Human Genetics, University Medical Center Goettingen, Germany
    Eur J Med Genet 56:458-62. 2013
  2. pmc Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
    Bernd Auber
    Institute of Human Genetics, Georg August University, Gottingen, Germany
    Mol Cytogenet 2:10. 2009
  3. ncbi request reprint Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation
    I Bartels
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Cytogenet Genome Res 101:103-5. 2003
  4. ncbi request reprint An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype
    Iris Bartels
    Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, D 37073 Goettingen, Lower Saxonia, Germany
    Eur J Med Genet 50:133-8. 2007
  5. doi request reprint A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
    Moneef Shoukier
    Institute of Human Genetics, Georg August University, Gottingen, Germany
    Am J Med Genet A 158:229-35. 2012
  6. doi request reprint Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
    Silke Pauli
    Institute of Human Genetics, University of Gottingen, Heinrich Düker Weg 12, D 37073 Gottingen, Germany
    Eur J Med Genet 55:480-4. 2012
  7. doi request reprint Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days
    Sina P Müller
    Department of Transfusion Medicine, University Medical Center, Gottingen, Germany
    Prenat Diagn 31:1300-4. 2011
  8. ncbi request reprint Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay
    S M Sauter
    Institut fur Humangenetik, Georg August Universitat Gottingen, Heinrich Düker Weg 12, Gottingen, Germany
    Am J Med Genet A 143:1091-9. 2007
  9. ncbi request reprint A retrospective evaluation of second-trimester serum screening for fetal trisomy 18: experience of two laboratories
    U Sancken
    Institut für Humangenetik der Universität Göttingen, Gosslerstr 12 D, 37073 Gottingen, Germany
    Prenat Diagn 19:947-54. 1999
  10. ncbi request reprint Fetal alcohol syndrome in association with Rett syndrome
    B Zoll
    Institute for Human Genetics, Georg August University, Goettingen, Germany
    Genet Couns 15:207-12. 2004

Collaborators

Detail Information

Publications23

  1. doi request reprint Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p
    Iris Bartels
    Institute of Human Genetics, University Medical Center Goettingen, Germany
    Eur J Med Genet 56:458-62. 2013
    ..DMRT1 is hemizygous in our patient. We discuss the role of DMRT1 in female gonadal development...
  2. pmc Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation
    Bernd Auber
    Institute of Human Genetics, Georg August University, Gottingen, Germany
    Mol Cytogenet 2:10. 2009
    ..The aim of the study was to evaluate a quantitative PCR (qPCR) protocol established by Boehm et al. (2004) in the clinical routine of subtelomeric testing...
  3. ncbi request reprint Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation
    I Bartels
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Cytogenet Genome Res 101:103-5. 2003
    ..This case for the first time gives evidence that early postzygotic reduction of a chromosome to a small marker chromosome is a real existing mechanism to rescue a conceptus with trisomy...
  4. ncbi request reprint An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype
    Iris Bartels
    Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, D 37073 Goettingen, Lower Saxonia, Germany
    Eur J Med Genet 50:133-8. 2007
    ..Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely...
  5. doi request reprint A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
    Moneef Shoukier
    Institute of Human Genetics, Georg August University, Gottingen, Germany
    Am J Med Genet A 158:229-35. 2012
    ....
  6. doi request reprint Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
    Silke Pauli
    Institute of Human Genetics, University of Gottingen, Heinrich Düker Weg 12, D 37073 Gottingen, Germany
    Eur J Med Genet 55:480-4. 2012
    ..We discuss the possible sequence of events leading to the cytogenetic findings and compare the clinical phenotype presented in the affected twin with other cases of trisomy 12p and tetrasomy 12p (Pallister-Killian syndrome)...
  7. doi request reprint Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days
    Sina P Müller
    Department of Transfusion Medicine, University Medical Center, Gottingen, Germany
    Prenat Diagn 31:1300-4. 2011
    ..The aim of this study was to determine the relation between the transport time of samples for NIPD and the concentration of fetal DNA in maternal plasma...
  8. ncbi request reprint Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay
    S M Sauter
    Institut fur Humangenetik, Georg August Universitat Gottingen, Heinrich Düker Weg 12, Gottingen, Germany
    Am J Med Genet A 143:1091-9. 2007
    ..The detected chromosomal aberration probably occurred de novo. The clinical features are very likely to be caused solely by the partial trisomy 19q...
  9. ncbi request reprint A retrospective evaluation of second-trimester serum screening for fetal trisomy 18: experience of two laboratories
    U Sancken
    Institut für Humangenetik der Universität Göttingen, Gosslerstr 12 D, 37073 Gottingen, Germany
    Prenat Diagn 19:947-54. 1999
    ..6 per cent) affected pregnancies in L(A) and 25 of 33 (75.8 per cent) in L(B). The differences in sensitivity and specificity seem to be due to the different analytical systems being utilized by the two laboratories...
  10. ncbi request reprint Fetal alcohol syndrome in association with Rett syndrome
    B Zoll
    Institute for Human Genetics, Georg August University, Goettingen, Germany
    Genet Couns 15:207-12. 2004
    ..Our report highlights the importance of considering the diagnosis of RETT syndrome even in patients who are already suffering from a defined disease...
  11. ncbi request reprint First confirmed case with paternal uniparental disomy of chromosome 16
    J Kohlhase
    Institut fur Humangenetik, Universitat Gottingen, Gottingen, Germany
    Am J Med Genet 91:190-1. 2000
    ..Our results indicate that isodisomic upd(16)pat is associated with a normal outcome if no recessive mutation is reduced to homozygosity...
  12. ncbi request reprint Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism
    U Engel
    Institute for Human Genetics, University of Gottingen, Germany
    Hum Reprod 16:63-66. 2001
    ..Extended chromosome analysis of 60 metaphase cells from maternal skin fibroblasts and 40 metaphase cells from lymphocytes did not reveal mosaicism for psudic(5;21). These findings suggest the presence of a maternal germline mosaicism...
  13. ncbi request reprint A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism
    G von Beust
    Institute of Human Genetics, University of Goettingen, Goettingen, Germany
    Genet Couns 14:67-74. 2003
    ..Trisomy 20 cells could not be confirmed after birth. The origin or trisomy 20 cells in amniotic fluid remains unclear. The phenotypically normal male baby is developing normal...
  14. ncbi request reprint Preliminary data on an association between blood groups and serum markers used for the so-called "triple screening": free oestriol MoM values are decreased in rhesus-negative (Rh-) women
    U Sancken
    Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, D 37037 Goettingen, Germany
    Prenat Diagn 21:194-5. 2001
    ..There were no significant differences in the distribution of hCG and AFP between these two cohorts. However the uE3 values in Rh- women were significantly lowered (median: 0.85 MoM)...
  15. ncbi request reprint Biochemical screening for chromosomal disorders and neural tube defects (NTD): is adjustment of maternal alpha-fetoprotein (AFP) still appropriate in insulin-dependent diabetes mellitus (IDDM)?
    U Sancken
    Institut fur Humangenetik, Universitat Gottingen, Gottingen, Germany
    Prenat Diagn 21:383-6. 2001
    ..It is concluded that progress in insulin adjustment and blood glucose surveillance of diabetic patients on the whole has balanced out serum levels. Therefore adjustment of serum AFP values for diabetic status no longer seems reasonable...
  16. ncbi request reprint Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay
    G von Beust
    Institute of Human Genetics, University of Goettingen, Germany
    Am J Med Genet A 137:59-64. 2005
    ..This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results...
  17. ncbi request reprint Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion
    D Bohm
    Institute of Human Genetics, Gottingen, Germany
    Am J Med Genet A 140:378-82. 2006
    ..To our knowledge, this is the first report describing a BPAD in a case with JBS...
  18. ncbi request reprint A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis
    R Trappe
    Institute of Human Genetics, Georg August University Gottingen, Germany
    Cytogenet Genome Res 98:1-8. 2002
    ..1-->qter and 2pter-->p24.1 and the first report on the frequency of chromosomal imbalances in gametes of a male t(2;20)(p24.1;q13.1) heterozygote...
  19. doi request reprint Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p?
    T Liehr
    Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, Germany
    Cytogenet Genome Res 132:121-3. 2011
    ..No comparable cases are available in the literature. Thus, we discuss here the possibility of having found a yet unrecognized chromosomal region subject to UBCA...
  20. doi request reprint The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible
    Sina P Müller
    Department of Transfusion Medicine, Department of Human Genetics, University Medical Center, Gottingen, Germany
    Transfusion 48:2292-301. 2008
    ..This study provides a large-scale validation study of this technology to address questions concerning feasibility and applicability of its introduction into clinical routine...
  21. ncbi request reprint First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome
    M Meins
    Institute of Human Genetics, University of Gottingen, Heinrich Düker Weg 12, D 37073 Gottingen, Germany
    Am J Med Genet A 127:58-64. 2004
    ..1::q22.1 --> pter)) in non-mosaic form can be viable, but is associated with severe congenital malformations of the child...
  22. ncbi request reprint Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q
    D Boehm
    Institute of Human Genetics, University of Goettingen, Goettingen, Germany
    Prenat Diagn 26:286-90. 2006
    ..To describe the prenatal phenotype of the 11q deletion syndrome (Jacobsen syndrome) and present the molecular characterization of the deletion in the case presented...
  23. ncbi request reprint Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification
    Heike Starke
    Institut fur Humangenetik und Anthropologie, Kollegiengasse 10, 07743 Jena, Germany
    Hum Genet 114:51-67. 2003
    ..With respect to clinical outcome, a classification of SMCs is proposed that considers molecular genetic and molecular cytogenetic characteristics as demonstrated by presently available methods...