Author Zoll, Barbara

• 2000 | Journal Article
  ​ ​Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?​
  Schauder, S.; Hanefeld, F.; Noske, U. M. & Zoll, B.​ (2000) 
  British Journal of Dermatology, 142(6) pp. 1204​-1207​.​ DOI: https://doi.org/10.1046/j.1365-2133.2000.03551.x 
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• 2001 | Journal Article
  ​ ​Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26)​
  Reinehr, T.; Jauch, A.; Zoll, B.; Engel, U.; Bartels, I. & Andler, W.​ (2001) 
  AMERICAN JOURNAL OF MEDICAL GENETICS, 102(1) pp. 81​-85​.​ DOI: https://doi.org/10.1002/1096-8628(20010722)102:1<81::AID-AJMG1375>3.0.CO;2-V 
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• 2002 | Journal Article
  ​ ​Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10​
  Zoll, B.; Petersen, L.; Lange, K.; Gabriel, P.; Kiese-Himmel, C.; Rausch, P. & Berger, J. et al.​ (2002) 
  Human Mutation, 21(1) pp. 98​-98​.​ DOI: https://doi.org/10.1002/humu.9098 
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• 2002 | Journal Article
  ​ ​A novel family-specific translocation t(2;20)(p24.1;q 13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis​
  Trappe, R.; Bohm, D.; Kohlhase, J.; Weise, A.; Liehr, T.; Essers, G. & Meins, M. et al.​ (2002) 
  Cytogenetic and Genome Research, 98(1) pp. 1​-8​.​ DOI: https://doi.org/10.1159/000068533 
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• 2003 | Journal Article
  ​ ​A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism​
  von Beust, G.; Bartels, I. & Zoll, B.​ (2003) 
  GENETIC COUNSELING, 14(1) pp. 67​-74​.​
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• 2003 | Journal Article
  ​ ​Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter -> p12.2)[10]​
  Sauter, S. M.; von Beust, G.; Burfeind, P.; Weise, A.; Starke, H.; Liehr, T. & Zoll, B.​ (2003) 
  American Journal of Medical Genetics Part A, 120A(4) pp. 533​-536​.​ DOI: https://doi.org/10.1002/ajmg.a.20089 
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• 2003 | Journal Article
  ​ ​Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome​
  Meins, M.; Burfeind, P.; Motsch, S.; Trappe, R.; Bartmus, D.; Langer, S. & Speicher, M. R. et al.​ (2003) 
  Journal of Medical Genetics, 40(5) art. e62​.​ DOI: https://doi.org/10.1136/jmg.40.5.e62 
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• 2004 | Journal Article
  ​ ​Fetal alcohol syndrome in association with Rett syndrome​
  Zoll, B.; Huppke, P.; Wessel, A. D.; Bartels, I. & Laccone, F. A.​ (2004) 
  GENETIC COUNSELING, 15(2) pp. 207​-212​.​
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• 2004 | Journal Article
  ​ ​Recurrent Pregnancy Loss and Its Relation to FV Leiden, FII G20210A and Polymorphisms of Plasminogen Activator and Plasminogen Activator Inhibitor​
  Wolf, C. E.; Haubelt, H.; Pauer, H. U.; Hinney, B.; Krome-Cesar, C.; Legler, T. J. & Hellstern, P. et al.​ (2004) 
  Pathophysiology of Haemostasis and Thrombosis, 33(3) pp. 134​-137​.​ DOI: https://doi.org/10.1159/000077821 
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• 2004 | Journal Article
  ​ ​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​
  Meins, M.; Bohm, D.; Grossmann, A.; Herting, E.; Fleckenstein, B.; Fauth, C. & Speicher, M. R. et al.​ (2004) 
  American Journal of Medical Genetics Part A, 127A(1) pp. 58​-64​.​ DOI: https://doi.org/10.1002/ajmg.a.20644 
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• 2004 | Journal Article | 
  ​ ​Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation​
  Teber, O. A.; Gillessen-Kaesbach, G.; Fischer, S.; Bohringer, S.; Albrecht, B.; Albert, A. & Arslan-Kirchner, M. et al.​ (2004) 
  European Journal of Human Genetics, 12(11) pp. 879​-890​.​ DOI: https://doi.org/10.1038/sj.ejhg.5201260 
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• 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 
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• 2006 | Journal Article
  ​ ​Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q​
  Boehm, D.; Laccone, F. A.; Burfeind, P.; Herold, S.; Schuhert, C.; Zoll, B. & Manner, J. et al.​ (2006) 
  Prenatal Diagnosis, 26(3) pp. 286​-290​.​ DOI: https://doi.org/10.1002/pd.1408 
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• 2006 | Journal Article
  ​ ​Manifestations of hereditary hemorrhagic telangiectasia in children and adolescents​
  Folz, B. J.; Zoll, B.; Alfke, H.; Toussaint, A.; Maier, R. F. & Werner, J. A.​ (2006) 
  European Archives of Oto-Rhino-Laryngology, 263(1) pp. 53​-61​.​ DOI: https://doi.org/10.1007/s00405-005-0956-8 
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• 2007 | Journal Article
  ​ ​CHARGE - from an association to the syndrome​
  Pauli, S.; Steckel, M.; Zoll, B. & Wehner, L.-E.​ (2007) 
  Monatsschrift Kinderheilkunde, 155(1) pp. 23​-+​.​ DOI: https://doi.org/10.1007/s00112-006-1397-1 
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• 2007 | Journal Article
  ​ ​Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay​
  Sauter, S. M.; Boehm, D.; Bartels, I.; Burfeind, P.; Laccone, F. A.; Neesen, J. & Wilken, B. et al.​ (2007) 
  American Journal of Medical Genetics Part A, 143A(10) pp. 1091​-1099​.​ DOI: https://doi.org/10.1002/ajmg.a.31686 
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• 2007 | Journal Article
  ​ ​An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype​
  Bartels, I.; Starke, H.; Argyriou, L.; Sauter, S. M.; Zoll, B. & Liehr, T.​ (2007) 
  European Journal of Medical Genetics, 50(2) pp. 133​-138​.​ DOI: https://doi.org/10.1016/j.ejmg.2006.10.007 
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• 2008 | Journal Article | 
  ​ ​Impairment of gastric acid secretion and increase of embryonic lethality in Foxq1-deficient mice​
  Goering, W.; Adham, I. M.; Pasche, B.; Maenner, J.; Ochs, M.; Engel, W. & Zoll, B.​ (2008) 
  Cytogenetic and Genome Research, 121(2) pp. 88​-95​.​ DOI: https://doi.org/10.1159/000125833 
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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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