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Showing 1 to 5 of 5 for “"Silver-Russell-Syndrom"”.
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Untersuchung zu (epi)genetischen Veränderungen auf Chromosom 11p15 und ihre funktionelle Relevanz bei Patienten mit Silver-Russell-Syndrom
Silver-Russell syndrome (SRS) is a heterogenous syndrome which is mainly associated with severe intrauterine and postnatal growth retardation. Typical facial dysmorphisms and further characteristic symptoms can additionally be observed. So far the clinical diagnosis can not be confirmed in all …
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Untersuchungen zur Rolle genetischer Veränderungen in der chromosomalen Region 11p15 bei der Entstehung des Silver-Russell-Syndroms
Silver-Russell-Syndrome (SRS) is a clinically heterogeneous syndrome, associated with pre- and postnatal growth retardation, cranial dysmorphisms, clinodactyly of the fifth finger, skeletal asymmetry and relative macrocephaly. The syndrome usually occurs sporadically, but in some cases a familial …
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Beitrag genetischer Varianten in den Genen LOT1(ZAC1/PLAGL1) und KCNQ1 zur Ätiologie des Silver-Russell-Syndroms
… which may play a role in the etiology of the Silver-Russell syndrome (SRS). For this reason, both genes were tested for genomic variations. Furthermore, a quantitative gene-copy analysis for LOT1(ZAC1/PLAGL1) was introduced to identify genomic imbalances. In addition, to characterize the …
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Implementierung hochauflösender molekulargenetischer Methoden zur Klärung der Pathophysiologie des Silver-Russell-Syndroms
Silver Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by severe pre- and postnatal growth retardation, a relative macrocephaly, a triangular face, asymmetry of the body and/or the limbs, and a clinodactyly of the fifth digits. A …