Author Auber, Bernd

• 2007 | Journal Article
  ​ ​A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome​
  Auber, B.; Burfeind, P.; Herold, S.; Schoner, K.; Simson, G.; Rauskolb, R. & Rehder, H.​ (2007) 
  Clinical Genetics, 72(5) pp. 454​-459​.​ DOI: https://doi.org/10.1111/j.1399-0004.2007.00880.x 
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• 2008 | Journal Article | 
  ​ ​Leupaxin, a novel coactivator of the androgen receptor, is expressed in prostate cancer and plays a role in adhesion and invasion of prostate carcinoma cells​
  Kaulfuss, S.; Grzmil, M.; Hemmerlein, B.; Thelen, P.; Schweyer, S.; Neesen, J. & Bubendorf, L. et al.​ (2008) 
  Molecular Endocrinology, 22(7) pp. 1606​-1621​.​ DOI: https://doi.org/10.1210/me.2006-0546 
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• 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 
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• 2009 | Journal Article
  ​ ​Overlap of Moebius and Oromandibular Limb Hypogenesis Syndrome With Gastroschisis and Pulmonary Hypoplasia​
  Brockmann, K.; Backes, H.; Auber, B.; Kriebel, T.; Stellmer, F. & Zoll, B.​ (2009) 
  American Journal of Medical Genetics Part A, 149A(12) pp. 2832​-2837​.​ DOI: https://doi.org/10.1002/ajmg.a.33111 
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• 2009 | Journal Article | 
  ​ ​Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation​
  Auber, B.; Bruemmer, V.; Zoll, B.; Burfeind, P.; Boehm, D.; Liehr, T. & Brockmann, K. et al.​ (2009) 
  Molecular Cytogenetics, 2 art. 10​.​ DOI: https://doi.org/10.1186/1755-8166-2-10 
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• 2010 | Journal Article | Letter Note
  ​ ​An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient​
  Auber, B.; Burfeind, P.; Thiels, C.; Alsat, E. A.; Shoukier, M.; Liehr, T. & Nelle, H. et al.​ (2010) 
  Clinical Genetics, 77(6) pp. 593​-597​.​ DOI: https://doi.org/10.1111/j.1399-0004.2009.01363.x 
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• 2011 | Journal Article
  ​ ​Familial Intellectual Disability and Autistic Behavior Caused by a Small FMR2 Gene Deletion​
  Stettner, G. M.; Shoukier, M.; Hoeger, C.; Brockmann, K. & Auber, B.​ (2011) 
  American Journal of Medical Genetics Part A, 155A(8) pp. 2003​-2007​.​ DOI: https://doi.org/10.1002/ajmg.a.34122 
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• 2012 | Journal Article
  ​ ​A 16q12 Microdeletion in a Boy With Severe Psychomotor Delay, Craniofacial Dysmorphism, Brain and Limb Malformations, and a Heart Defect​
  Shoukier, M.; Wickert, J.; Schroeder, J.; Bartels, I.; Auber, B.; Zoll, B. & Salinas-Riester, G. et al.​ (2012) 
  American Journal of Medical Genetics Part A, 158A(1) pp. 229​-235​.​ DOI: https://doi.org/10.1002/ajmg.a.34387 
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• 2015 | Journal Article | 
  ​ ​Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes​
  Kratz, C. P.; Franke, L.; Peters, H.; Kohlschmidt, N.; Kazmierczak, B.; Finckh, U. & Bier, A. et al.​ (2015) 
  British Journal of Cancer, 112(8) pp. 1392​-1397​.​ DOI: https://doi.org/10.1038/bjc.2015.75 
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• 2016 | Journal Article
  ​ ​Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer​
  Kast, K.; Rhiem, K.; Wappenschmidt, B.; Hahnen, E.; Hauke, J.; Bluemcke, B. & Zarghooni, V. et al.​ (2016) 
  Journal of Medical Genetics, 53(7) pp. 465​-471​.​ DOI: https://doi.org/10.1136/jmedgenet-2015-103672 
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• 2017 | Conference Abstract
  ​ ​IDENTIFICATION OF A NOVEL GERMLINE MECOM / EVI1 VARIANT THAT RUNS IN A PEDIGREE WITH RADIOULNAR SYNOSTOSIS AND AMEGAKARYOCYTIC THROMBOCYTOPENIA AND PREDISPOSES TO ADULT ONSET MYELOID MALIGNANCY​
  Ripperger, T.; Hofmann, W.; Koch, J. C.; Shirneshan, K.; Haase, D.; Wulf, G. & Issing, P. R. et al.​ (2017)
  Haematologica, 102 ​22nd Congress of the European-Hematology-Association​, Madrid, SPAIN.
  Pavia​: Ferrata Storti Foundation.
  ​Details  WoS 

• 2018 | Journal Article
  ​ ​MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies​
  Ripperger, T.; Hofmann, W.; Koch, J. C. ; Shirneshan, K. ; Haase, D. ; Wulf, G.   & Issing, P. R. et al.​ (2018) 
  Haematologica, 103(2) pp. e55​-e58​.​ DOI: https://doi.org/10.3324/haematol.2017.178723 
  ​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 
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