Author Zoll, Barbara
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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 |
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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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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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
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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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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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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