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
  ​ ​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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• 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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• 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
  ​ ​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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• 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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• 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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• 2011 | Journal Article | 
  ​ ​Is There a Yet Unreported Unbalanced Chromosomal Abnormality without Phenotypic Consequences in Proximal 4p?​
  Liehr, T.; Bartels, I.; Zoll, B.; Ewers, E.; Mrasek, K.; Kosyakova, N. & Merkas, M. et al.​ (2011) 
  Cytogenetic and Genome Research, 132(1-2) pp. 121​-123​.​ DOI: https://doi.org/10.1159/000316393 
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• 2012 | Journal Article
  ​ ​A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy​
  Shoukier, M.; Schröder, J.; Zoll, B.; Burfeind, P.; Freiberg, C.; Klinge, L. & Kriebel, T. et al.​ (2012) 
  American Journal of Medical Genetics Part A, 158A(2) pp. 429​-433​.​ DOI: https://doi.org/10.1002/ajmg.a.34427 
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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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• 2012 | Journal Article
  ​ ​Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes​
  Pauli, S.; Schmidt, T.; Funke, R.; Zoll, B.; Burfeind, P.; Dybowski, U. & Shoukier, M. et al.​ (2012) 
  European Journal of Medical Genetics, 55(8-9) pp. 480​-484​.​ DOI: https://doi.org/10.1016/j.ejmg.2012.05.004 
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• 2013 | Journal Article
  ​ ​A 3p Interstitial Deletion in Two Monozygotic Twin Brothers and an 18-Year-Old Man: Further Characterization and Review​
  Schwaibold, E. M. C.; Zoll, B.; Burfeind, P.; Hobbiebrunken, E.; Wilken, B.; Funke, R. & Shoukier, M.​ (2013) 
  American Journal of Medical Genetics Part A, 161(10) pp. 2634​-2640​.​ DOI: https://doi.org/10.1002/ajmg.a.36129 
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• 2013 | Journal Article | 
  ​ ​A Family with an Inverted Tandem Duplication 5q22.1q23.2​
  Schmidt, T.; Bartels, I.; Liehr, T.; Burfeind, P.; Zoll, B. & Shoukier, M.​ (2013) 
  Cytogenetic and Genome Research, 139(1) pp. 65​-70​.​ DOI: https://doi.org/10.1159/000342914 
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• 2013 | Journal Article
  ​ ​X-Linked Recessive Ichthyosis (XRI), Cerebellar Ataxia and Neuropsychiatric Symptoms​
  Pehlke, J. R.; Venkataramani, V.; Emmert, S.; Mohr, A.; Zoll, B. & Nau, R.​ (2013) 
  Fortschritte der Neurologie · Psychiatrie, 81(1) pp. 40​-43​.​ DOI: https://doi.org/10.1055/s-0032-1330280 
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• 2014 | Journal Article | 
  ​ ​Intragenic duplication of EHMT1 gene results in Kleefstra syndrome​
  Schwaibold, E. M. C.; Smogavec, M. ; Hobbiebrunken, E.; Winter, L.; Zoll, B.; Burfeind, P. & Brockmann, K. et al.​ (2014) 
  Molecular Cytogenetics, 7 art. 74​.​ DOI: https://doi.org/10.1186/s13039-014-0074-7 
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• 2014 | Journal Article | 
  ​ ​De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis​
  Schwaibold, E. M. C.; Bartels, I.; Kuester, H.; Lorenz, M.; Burfeind, P.; Adam, R. & Zoll, B.​ (2014) 
  Molecular Cytogenetics, 7 art. 7​.​ DOI: https://doi.org/10.1186/1755-8166-7-7 
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• 2014 | Journal Article | 
  ​ ​High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.​
  Spiegler, S.; Najm, J.; Liu, J.; Gkalympoudis, S.; Schröder, W.; Borck, G. & Brockmann, K. et al.​ (2014) 
  Molecular genetics & genomic medicine, 2(2) pp. 176​-185​.​ DOI: https://doi.org/10.1002/mgg3.60 
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• 2015 | Journal Article
  ​ ​Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome​
  Menke, J.; Pauli, S.; Sigler, M.; Kuehnle, I.; Shoukier, M.; Zoll, B. & Ganster, C. et al.​ (2015) 
  Journal of Clinical Oncology, 33(13) pp. E62​-E65​.​ DOI: https://doi.org/10.1200/JCO.2013.49.6539 
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