Prof. Dr. rer. nat. Peter Burfeind

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  • 2021 | Journal Article
    ​ ​Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study​
    Gangfuß, A.; Yigit, G. ; Altmüller, J.; Nürnberg, P.; Czeschik, J. C.; Wollnik, B.   & Bögershausen, N. et al.​ (2021) 
    American Journal of Medical Genetics Part A, 185(4) pp. 1216​-1221​.​ DOI: https://doi.org/10.1002/ajmg.a.62070 
    ​Details  DOI 
  • 2020 | Journal Article
    ​ ​A Novel Mutation in <b><i>PIGA</i></b> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia​
    Neuhofer, C. M.; Funke, R.; Wilken, B.; Knaus, A.; Altmüller, J.; Nürnberg, P. & Li, Y.  et al.​ (2020) 
    Molecular Syndromology, 11(1) pp. 30​-37​.​ DOI: https://doi.org/10.1159/000505797 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​
    Ganapathi, M.; Argyriou, L.; Martínez-Azorín, F.; Morlot, S.; Yigit, G. ; Lee, T. M. & Auber, B. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1443​-1454​.​ DOI: https://doi.org/10.1007/s00439-020-02188-6 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Simultaneous inhibition of IGF1R and EGFR enhances the efficacy of standard treatment for colorectal cancer by the impairment of DNA repair and the induction of cell death​
    Oberthür, R.; Seemann, H. ; Gehrig, J. ; Rave-Fränk, M. ; Bremmer, F. ; Halpape, R.   & Conradi, L.-C.  et al.​ (2017) 
    Cancer Letters, 407 pp. 93​-105​.​ DOI: https://doi.org/10.1016/j.canlet.2017.08.009 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Prognostic value of CXCL12 and CXCR4 in inoperable head and neck squamous cell carcinoma​
    Rave-Fränk, M. ; Tehrany, N.; Kitz, J. ; Leu, M.; Weber, H. E.; Burfeind, P.   & Schliephake, H.  et al.​ (2016) 
    Strahlentherapie und Onkologie, 192(1) pp. 47​-54​.​ DOI: https://doi.org/10.1007/s00066-015-0892-5 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article
    ​ ​High-grade acute organ toxicity and p16(INK4A) expression as positive prognostic factors in primary radio(chemo)therapy for patients with head and neck squamous cell carcinoma​
    Tehrany, N.; Kitz, J. ; Rave-Fränk, M. ; Lorenzen, S.; Li, L. I.; Küffer, S.   & Hess, C. F.  et al.​ (2015) 
    Strahlentherapie und Onkologie, 191(7) pp. 566​-572​.​ DOI: https://doi.org/10.1007/s00066-014-0801-3 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?​
    Shoukier, M.; Klein, N. ; Auber, B.; Wickert, J.; Schroeder, J.; Zoll, B.   & Burfeind, P.  et al.​ (2013) 
    Clinical Genetics, 83(1) pp. 53​-65​.​ DOI: https://doi.org/10.1111/j.1399-0004.2012.01850.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Conference Abstract
    ​ ​Identification of potential relevant pathways and genes for resistance to chemoradiotherapy in colorectal cancer cells​
    Grade, M. ; Spitzner, M. ; Emons, G. ; Kramer, F. ; Gaedcke, J. ; Rave-Fränk, M.   & Scharf, J.-G. et al.​ (2011)
    Cancer Research, 71 
    Philadelphia​: Amer Assoc Cancer Research. DOI: https://doi.org/10.1158/1538-7445.AM2011-2508 
    ​Details  DOI  WoS 
  • 2010 | Journal Article | 
    ​ ​A GENE EXPRESSION SIGNATURE FOR CHEMORADIOSENSITIVITY OF COLORECTAL CANCER CELLS​
    Spitzner, M. ; Emons, G. ; Kramer, F. ; Gaedcke, J. ; Rave-Fränk, M. ; Scharf, J.-G. & Burfeind, P.  et al.​ (2010) 
    International Journal of Radiation Oncology*Biology*Physics, 78(4) pp. 1184​-1192​.​ DOI: https://doi.org/10.1016/j.ijrobp.2010.06.023 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article
    ​ ​A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism​
    Juelich, K.; Horn, D.; Burfeind, P. ; Erler, T. & Auber, B.​ (2009) 
    The Journal of Pediatrics, 155(1) pp. 140​-143​.​ DOI: https://doi.org/10.1016/j.jpeds.2009.01.035 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article
    ​ ​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​
    von Beust, G.; Sauter, S. M.; Liehr, T.; Burfeind, P. ; Bartels, I.; Stark, H.   & von Eggeling, F. et al.​ (2005) 
    American Journal of Medical Genetics Part A, 137A(1) pp. 59​-64​.​ DOI: https://doi.org/10.1002/ajmg.a.30835 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article
    ​ ​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​
    Bartels, I.; Schlueter, G.; Liehr, T.; von Eggeling, F.; Starke, H.; Glaubitz, R. & Burfeind, P. ​ (2003) 
    Cytogenetic and Genome Research, 101(2) pp. 103​-105​.​ DOI: https://doi.org/10.1159/000074163 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article
    ​ ​The murine BTB/POZ zinc finger gene Znf131: predominant expression in the developing central nervous system, in adult brain, testis, and thymus​
    Trappe, R.; Buddenberg, P.; Uedelhoven, J.; Gläser, B.; Buck, A.; Engel, W. & Burfeind, P. ​ (2002) 
    Biochemical and Biophysical Research Communications, 296(2) art. PII S0006-291X(02)00850-1​.​ DOI: https://doi.org/10.1016/S0006-291X(02)00850-1 
    ​Details  DOI  PMID  PMC  WoS 

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