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De novo complete trisomy 5p: clinical report and FISH studies.
Reichenbach H, Holland H, Dalitz E, Demandt C, Meiner A, Chudoba I, Lemke J, Claussen U, Froster UG. Reichenbach H, et al. Among authors: meiner a. Am J Med Genet. 1999 Aug 27;85(5):447-51. doi: 10.1002/(sici)1096-8628(19990827)85:5<447::aid-ajmg3>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10405440 Review.
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M. Hehr U, et al. Among authors: meiner a. Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4. Epub 2010 Feb 16. Hum Genet. 2010. PMID: 20157829 Free PMC article.
Current awareness in prenatal diagnosis.
Horn LC, Faber R, Meiner A, Piskazeck U, Spranger J. Horn LC, et al. Among authors: meiner a. Prenat Diagn. 2001 May;21(5):427-33. doi: 10.1002/pd.10. Prenat Diagn. 2001. PMID: 11360293 No abstract available.
Missense exchanges in the TTBK2 gene mutated in SCA11.
Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. Among authors: meiner a. J Neurol. 2009 Nov;256(11):1856-9. doi: 10.1007/s00415-009-5209-0. Epub 2009 Jun 17. J Neurol. 2009. PMID: 19533200
11 results