Search Results - "Plassmann, Margit"

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations by Rehder, Helga, Kircher, Susanne G, Schoner, Katharina, Smogavec, Mateja, Behunova, Jana, Ihm, Ulrike, Plassmann, Margit, Hofer, Manuel, Ringl, Helmut, Laccone, Franco

“…Diprosopus is a rare malformation of still unclear aetiology. It describes a laterally double faced monocephalic and single-trunk individual and has to be…”
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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain by Neuser, Sonja, Krey, Ilona, Schwan, Annemarie, Abou Jamra, Rami, Bartolomaeus, Tobias, Döring, Jan, Syrbe, Steffen, Plassmann, Margit, Rohde, Stefan, Roth, Christian, Rehder, Helga, Radtke, Maximilian, Le Duc, Diana, Schubert, Susanna, Bermúdez-Guzmán, Luis, Leal, Alejandro, Schoner, Katharina, Popp, Bernt

“…Biallelic PNKP variants cause heterogeneous disorders ranging from neurodevelopmental disorder with microcephaly/seizures to adult-onset Charcot-Marie-Tooth…”
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Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele by Schoner, Katharina, Kohlhase, Juergen, Müller, Annette M., Schramm, Thomas, Plassmann, Margit, Schmitz, Ralf, Neesen, Juergen, Wieacker, Peter, Rehder, Helga

“…ABSTRACT Objective Fetal pathology aims to recognize syndromal patterns of anomalies for goal‐directed mutation analyses, genetic counseling, and early…”
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