Schoner K - Search Results

1

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Schoner K, Bald R, Horn D, Rehder H, Kornak U, Ehmke N. Schoner K, et al. Am J Med Genet A. 2017 Jun;173(6):1694-1697. doi: 10.1002/ajmg.a.38209. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422407

2

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H. Auber B, et al. Among authors: schoner k. Clin Genet. 2007 Nov;72(5):454-9. doi: 10.1111/j.1399-0004.2007.00880.x. Clin Genet. 2007. PMID: 17935508

3

Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil?

Schoner K, Steinhard J, Figiel J, Rehder H. Schoner K, et al. Obstet Gynecol. 2008 Feb;111(2 Pt 2):483-6. doi: 10.1097/01.AOG.0000298347.18812.a4. Obstet Gynecol. 2008. PMID: 18238994

4

Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios.

Schoner K, Bald R, Fritz B, Rehder H. Schoner K, et al. Fetal Diagn Ther. 2008;23(3):228-32. doi: 10.1159/000116746. Epub 2008 Feb 20. Fetal Diagn Ther. 2008. PMID: 18417983

5

Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis.

Kunz J, Schoner K, Stein W, Rehder H, Fritz B. Kunz J, et al. Among authors: schoner k. Arch Gynecol Obstet. 2009 Dec;280(6):1049-53. doi: 10.1007/s00404-009-1059-3. Epub 2009 Apr 2. Arch Gynecol Obstet. 2009. PMID: 19340439

6

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Laccone F, Schoner K, Krabichler B, Kluge B, Schwerdtfeger R, Schulze B, Zschocke J, Rehder H. Laccone F, et al. Among authors: schoner k. Eur J Hum Genet. 2011 Nov;19(11):1133-7. doi: 10.1038/ejhg.2011.101. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654728 Free PMC article.

7

Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach.

Schoner K, Fritz B, Huelskamp G, Louwen F, Zenker M, Moll R, Rehder H. Schoner K, et al. Pediatr Dev Pathol. 2012 Jan-Feb;15(1):50-7. doi: 10.2350/11-04-1020-OA.1. Epub 2011 Jun 28. Pediatr Dev Pathol. 2012. PMID: 21711208

8

Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.

Rehder H, Schoner K, Kluge B, Louwen F, Schwinger E, Neesen J. Rehder H, et al. Among authors: schoner k. Prenat Diagn. 2012 Feb;32(2):173-9. doi: 10.1002/pd.2928. Prenat Diagn. 2012. PMID: 22418962

9

Double-outlet left ventricle in association with heterotaxy and left isomerism of the atrial appendages.

Schoner K, Enzensberger C, Vogel M, Degenhard J, Rehder H, Axt-Fliedner R. Schoner K, et al. J Ultrasound Med. 2012 Jun;31(6):965-8. doi: 10.7863/jum.2012.31.6.965. J Ultrasound Med. 2012. PMID: 22644696 No abstract available.

10

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. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13. Prenat Diagn. 2013. PMID: 23161355

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