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, Schröder, J, Zoll, B, Burfeind, P, Bartels, I, Alsat, EA, Lingen, M, Grzmil, P, Schulze, S, Keyser, J, Weise, D, Borchers, M, Hobbiebrunken, E, Röbl, M, Gärtner, J, Brockmann, K, Zirn, B
Published in Clinical genetics (01.01.2013)
Published in Clinical genetics (01.01.2013)
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Journal Article
A Family with an Inverted Tandem Duplication 5q22.1q23.2
Schmidt, T., Bartels, I., Liehr, T., Burfeind, P., Zoll, B., Shoukier, M.
Published in Cytogenetic and genome research (01.01.2013)
Published in Cytogenetic and genome research (01.01.2013)
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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
Published in Fortschritte der Neurologie-Psychiatrie (01.01.2013)
Published in Fortschritte der Neurologie-Psychiatrie (01.01.2013)
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Journal Article
Impairment of gastric acid secretion and increase of embryonic lethality in Foxq1-deficient mice
Goering, W., Adham, I.M., Pasche, B., Männer, J., Ochs, M., Engel, W., Zoll, B.
Published in Cytogenetic and genome research (01.01.2008)
Published in Cytogenetic and genome research (01.01.2008)
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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., Hamid, A.B., von Eggeling, F., Posorski, N., Weise, A.
Published in Cytogenetic and genome research (01.01.2011)
Published in Cytogenetic and genome research (01.01.2011)
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Journal Article
MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution
Laccone, F, Zoll, B, Huppke, P, Hanefeld, F, Pepinski, W, Trappe, R
Published in Journal of medical genetics (01.08.2002)
Published in Journal of medical genetics (01.08.2002)
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Journal Article
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q
Bœhm, D., Laccone, F., Burfeind, P., Herold, S., Schubert, C., Zoll, B., Männer, J., Pauer, H. U., Bartels, I.
Published in Prenatal diagnosis (01.03.2006)
Published in Prenatal diagnosis (01.03.2006)
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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, Mühlendyck, H, Bartels, I, Zoll, B
Published in Journal of medical genetics (01.05.2003)
Published in Journal of medical genetics (01.05.2003)
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Journal Article
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]
Sauter, S., von Beust, G., Burfeind, P., Weise, A., Starke, H., Liehr, T., Zoll, B.
Published in American journal of medical genetics. Part A (01.08.2003)
Published in American journal of medical genetics. Part A (01.08.2003)
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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., Starke, H., von Eggeling, F., Zoll, B.
Published in American journal of medical genetics. Part A (15.08.2005)
Published in American journal of medical genetics. Part A (15.08.2005)
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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.
Published in British journal of dermatology (1951) (01.06.2000)
Published in British journal of dermatology (1951) (01.06.2000)
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Conference Proceeding
Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations
Gläser, B., Shirneshan, K., Bink, K., Wirth, J., Kehrer-Sawatzki, H., Bartz, U., Zoll, B., Bohlander, Stefan K.
Published in American journal of medical genetics. Part A (30.04.2004)
Published in American journal of medical genetics. Part A (30.04.2004)
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Journal Article
Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection
Pauer, H U, Hinney, B, Michelmann, H W, Krasemann, E W, Zoll, B, Engel, W
Published in Human reproduction (Oxford) (01.09.1997)
Published in Human reproduction (Oxford) (01.09.1997)
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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., Böhm, D., Großmann, A., Herting, E., Fleckenstein, B., Fauth, C., Speicher, M.R., Schindler, R., Zoll, B., Bartels, I., Burfeind, Peter
Published in American journal of medical genetics. Part A (15.05.2004)
Published in American journal of medical genetics. Part A (15.05.2004)
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Journal Article
A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis
Trappe, R., Böhm, D., Kohlhase, J., Weise, A., Liehr, T., Essers, G., Meins, M., Zoll, B., Bartels, I., Burfeind, P.
Published in Cytogenetic and genome research (01.01.2002)
Published in Cytogenetic and genome research (01.01.2002)
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Journal Article
Trisomy 13 (Patau syndrome) with an 11-year survival
Zoll, B, Wolf, J, Lensing-Hebben, D, Pruggmayer, M, Thorpe, B
Published in Clinical genetics (01.01.1993)
Published in Clinical genetics (01.01.1993)
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