0000000000416849

AUTHOR

Markus Palta

showing 4 related works from this author

Comparison of environmental risk factors for esophageal atresia, anorectal malformations, and the combined phenotype in 263 German families

2015

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations invo…

0301 basic medicineFetusPregnancyPediatricsmedicine.medical_specialtybusiness.industryBirth weightGastroenterologyPhysiologyTracheoesophageal fistulaContext (language use)General Medicine030105 genetics & hereditymedicine.disease03 medical and health sciencesAtresiaembryonic structuresmedicineEtiologyRisk factorbusinessDiseases of the Esophagus
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Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

2017

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 esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. Methods To detect further causative CNVs we perfor…

0301 basic medicineEmbryologymedicine.medical_specialtyPathologyHealth Toxicology and MutagenesisTracheoesophageal fistulaDisease030105 genetics & heredityToxicologydigestive systemGastroenterology03 medical and health sciencesInternal medicinemedicineIn patientCopy-number variationbusiness.industryKaryotypemedicine.diseaseVACTERL associationdigestive system diseases030104 developmental biologyAtresiaPediatrics Perinatology and Child HealthChromosomal regionbusinessDevelopmental BiologyBirth Defects Research
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De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext 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 syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Heart Defects CongenitalMalemedicine.medical_specialtyCandidate geneLimb Deformities CongenitalTracheoesophageal fistulaSingle-nucleotide polymorphismContext (language use)Chromosome DisordersEphrin-B2BiologyGastroenterologyAnus ImperforateMiceEsophagusInternal medicineGeneticsmedicineAnimalsHumansIn patientGenetics (clinical)Mice KnockoutChromosomes Human Pair 13Infant NewbornChromosomeAnatomymedicine.diseaseAnorectal MalformationsSpineTracheaDisease Models AnimalRadiusHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]AtresiaChild PreschoolMutationMutation testingFemaleChromosome DeletionGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]American Journal of Medical Genetics. Part A
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HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

2014

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, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients …

Delayed pubertyEmbryologymedicine.medical_specialtyKallmann syndromeTracheoesophageal fistulaGeneral MedicineBiologyUnilateral cryptorchidismmedicine.diseaseVACTERL associationGastroenterologyHypergonadotropic hypogonadismEndocrinologyInternal medicineAtresiaPediatrics Perinatology and Child HealthGene duplicationmedicinemedicine.symptomDevelopmental BiologyBirth Defects Research Part A: Clinical and Molecular Teratology
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