Search Results - "Frühmesser, Anne"

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome by Frühmesser, Anne, Ph.D, Vogt, Peter H., Ph.D, Zimmer, Jutta, Witsch-Baumgartner, Martina, Ph.D, Fauth, Christine, M.D, Zschocke, Johannes, Ph.D., M.D, Pinggera, Germar-Michael, M.D, Kotzot, Dieter, M.D

“…Objective To identify copy number variations (CNVs) as a hint toward genes relevant for spermatogenesis and related to male factor infertility. Design Analysis…”
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Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22 by Blassnig-Ezeh, Anya, Bandelier, Claude, Frühmesser, Anne, Revencu, Nicole, Krabichler, Birgit, Beauloye, Véronique, Ravoet, Marie, Fauth, Christine, Zschocke, Johannes, Simma, Burkhard, Kotzot, Dieter

“…Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome…”
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Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype by Frühmesser, Anne, Haberlandt, Edda, Judmaier, Werner, Schinzel, Albert, Utermann, Barbara, Erdel, Martin, Fauth, Christine, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

“…Exact breakpoint determination by DNA‐array has dramatically improved the analysis of genotype–phenotype correlations in chromosome aberrations. It allows a…”
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In vitro toxicity of amorphous silica nanoparticles in human colon carcinoma cells by Gehrke, Helge, Frühmesser, Anne, Pelka, Joanna, Esselen, Melanie, Hecht, Lena L., Blank, Holger, Schuchmann, Heike P., Gerthsen, Dagmar, Marquardt, Clarissa, Diabaté, Silvia, Weiss, Carsten, Marko, Doris

“…Abstract The use of nanostructured silica (SiO2) particles is no longer restricted to biomedical and (bio-) technological fields but rather finding…”
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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation by Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

“…Most balanced chromosomal aberrations are not associated with a clinical phenotype, however, in some patients they may disrupt gene structure. With the…”
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Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism by Frühmesser, Anne, Erdel, Martin, Duba, Hans-Christoph, Fauth, Christine, Amberger, Albert, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

“…Abstract De novo combined duplications/inversions are very rare chromosomal rearrangements. For chromosome 7 just some dozen cases of duplications of various…”
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Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype by Frühmesser, Anne, Haberlandt, Edda, Judmaier, Werner, Schinzel, Albert, Utermann, Barbara, Erdel, Martin, Fauth, Christine, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

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