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Markus Palta

Explore the profile of Markus Palta including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 5
Citations 58
Followers 0
Related Specialties
Genetics
General Surgery
Pediatrics
Top 10 Co-Authors
Nadine Zwink
Johannes Leonhardt
Stefanie Marzheuser
Ekkehart Jenetzky
Heiko Reutter
Eberhard Schmiedeke
Sabine Grasshoff-Derr
Michael Ludwig
Markus M Nothen
Sandra Weih
Published In
Pediatr Surg Int
Birth Defects Res
Am J Med Genet A
Eur J Hum Genet
Birth Defects Res A Clin Mol Teratol
Affiliations
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Recent Articles
1.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
Fabian J, Dworschak G, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, et al.
Eur J Hum Genet . 2022 Nov; 31(1):105-111. PMID: 36319675
Anorectal malformations (ARM) represent a spectrum of rare malformations originating from a perturbated development of the embryonic hindgut. Approximately 60% occur as a part of a defined genetic syndrome or...
2.
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations
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.
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
Zeidler C, Woelfle J, Draaken M, Mughal S, Grosse G, Hilger A, et al.
Birth Defects Res A Clin Mol Teratol . 2014 Aug; 100(10):750-9. PMID: 25131394
Background: The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia,...
4.
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations
Dworschak G, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij I, et al.
Am J Med Genet A . 2013 Sep; 161A(12):3035-41. PMID: 24038947
Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic...
5.
Inheritance of the VATER/VACTERL association
Bartels E, Jenetzky E, Solomon B, Ludwig M, Schmiedeke E, Grasshoff-Derr S, et al.
Pediatr Surg Int . 2012 May; 28(7):681-5. PMID: 22581124
VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal atresia, renal abnormalities, and limb defects. Recently, Solomon et al. (Hum...