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Florian Marsch

Explore the profile of Florian Marsch including associated specialties, affiliations and a list of published articles. Areas
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Articles 5
Citations 53
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Recent Articles
1.
Kause F, Reutter H, Marsch F, Thiele H, Altmuller J, Ludwig M, et al.
Mol Med Rep . 2017 Dec; 17(2):3200-3205. PMID: 29257230
Branchio‑otic (BO) syndrome is a clinically and genetically heterogeneous disorder that presents with variable branchial arch and otic anomalies. Dominant mutations in the human homologues of the Drosophila eyes absent...
2.
Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Marzheuser S, et al.
Birth Defects Res . 2017 Jun; 109(13):1063-1069. PMID: 28605140
Background: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without...
3.
Brosens E, Marsch F, de Jong E, Zaveri H, Hilger A, Choinitzki V, et al.
Eur J Hum Genet . 2016 Jul; 24(12):1715-1723. PMID: 27436264
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among...
4.
von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert A, Rosch W, et al.
BMC Med Genet . 2016 May; 17(1):35. PMID: 27138190
Background: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal...
5.
Schumann M, Hofmann A, Krutzke S, Hilger A, Marsch F, Stienen D, et al.
J Neurodev Disord . 2016 Apr; 8:11. PMID: 27087860
Background: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain...