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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Pfeifer M, Rehder H, Gerykova Bujalkova M, Bartsch C, Fritz B, Knopp C, Beckers B, Dohle F, Meyer-Wittkopf M, Axt-Fliedner R, Beribisky AV, Hofer M, Laccone F, Schoner K. Pfeifer M, et al. Among authors: rehder h. Orphanet J Rare Dis. 2024 Mar 12;19(1):114. doi: 10.1186/s13023-024-03106-z. Orphanet J Rare Dis. 2024. PMID: 38475835 Free PMC article.
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.
Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H. Schoner K, et al. Among authors: rehder h. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13. Prenat Diagn. 2013. PMID: 23161355
Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases.
Schoner K, Axt-Fliedner R, Bald R, Fritz B, Kohlhase J, Kohl T, Rehder H. Schoner K, et al. Among authors: rehder h. Geburtshilfe Frauenheilkd. 2017 May;77(5):495-507. doi: 10.1055/s-0043-103459. Epub 2017 May 24. Geburtshilfe Frauenheilkd. 2017. PMID: 28579621 Free PMC article.
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.
Schoner K, Witsch-Baumgartner M, Behunova J, Petrovic R, Bald R, Kircher SG, Ramaswamy A, Kluge B, Meyer-Wittkopf M, Schmitz R, Fritz B, Zschocke J, Laccone F, Rehder H. Schoner K, et al. Among authors: rehder h. Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16. Birth Defects Res. 2020. PMID: 31840946 Free PMC article.
[Genetic causes of mental retardation].
Rehder H, Fritz B. Rehder H, et al. Wien Med Wochenschr. 2005 Jun;155(11-12):258-67. doi: 10.1007/s10354-005-0183-3. Wien Med Wochenschr. 2005. PMID: 16035386 German.
154 results