Search Results - "Kobelt, Albrecht"

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? by Hackmann, Karl, Rump, Andreas, Haas, Stefan A., Lemke, Johannes R., Fryns, Jean-Pierre, Tzschach, Andreas, Wieczorek, Dagmar, Albrecht, Beate, Kuechler, Alma, Ripperger, Tim, Kobelt, Albrecht, Oexle, Konrad, Tinschert, Sigrid, Schrock, Evelin, Kalscheuer, Vera M., Di Donato, Nataliya

“…The clinical diagnosis of Lujan‐Fryns syndrome (LFS) comprises X‐linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor…”
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Functional monosomy of 6q27‐qter and functional disomy of Xpter‐p22.11 due to X;6 translocation with an atypical X‐inactivation pattern by Podolska, Anna, Kobelt, Albrecht, Fuchs, Sigrid, Hackmann, Karl, Rump, Andreas, Schröck, Evelin, Kutsche, Kerstin, Di Donato, Nataliya

“…Pattern of X chromosome inactivation (XCI) is typically random in females. However, chromosomal rearrangements affecting the X chromosome can result in XCI…”
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Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients by Schulze, Birgit R.B., Horn, Denise, Kobelt, Albrecht, Tariverdian, Gholamali, Stellzig, Angelika

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Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations by Meyer, Jobst, Südbeck, Peter, Held, Marika, Wagner, Thomas, Schmitz, M. Lienhard, Dagna Bricarelli, Franca, Eggermont, Ephrem, Friedrich, Ursula, Haas, Oskar A., Kobelt, Albrecht, Leroy, Jules G., Van Maldergem, Lionel, Michel, Erik, Mitulla, Beate, Pfeiffer, Rudolf A., Schinzel, Albert, Schmidt, Heinrich, Scherer, Gerd

“…It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY…”
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Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen by Schuffenhauer, Simone, Kobelt, Albrecht, Daumer-Haas, Cornelia, Löffler, Christine, Müller, Gisela, Murken, Jan, Meitinger, Thomas

“…Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn…”
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Rare dental abnormalities seen in oculo‐facio‐cardio‐dental (OFCD) syndrome: three new cases and review of nine patients by Schulze, Birgit R.B., Horn, Denise, Kobelt, Albrecht, Tariverdian, Gholamali, Stellzig, Angelika

“…Oculo‐facio‐cardio‐dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients…”
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