0000000000770659

AUTHOR

Reinhard Ullmann

showing 4 related works from this author

Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 <i>(NF1)&lt…

2006

Most patients with neurofibromatosis (NF1) are endowed with heterozygous mutations in the <i>NF1</i> gene. Approximately 5% show an interstitial deletion of chromosome 17q11.2 (including <i>NF1</i>) and in most cases also a more severe phenotype. Here we report on a 7-year-old girl with classical NF1 signs, and in addition mild overgrowth (97th percentile), relatively low OFC (10th–25th percentile), facial dysmorphy, hoarse voice, and developmental delay. FISH analysis revealed a 17q11.2 microdeletion as well as an unbalanced 7p;13q translocation leading to trisomy of the 7q36.3 subtelomeric region. The patient’s mother and grandmother who were phenotypically normal …

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesNeurofibromatosesmedia_common.quotation_subjectBiologyCytogeneticsGene DuplicationGene duplicationGeneticsmedicineHumansGirlNeurofibromatosisneoplasmsMolecular BiologyGeneIn Situ Hybridization FluorescenceGenetics (clinical)Oligonucleotide Array Sequence AnalysisNeurofibromatosesmedia_commonGeneticsInfantChromosomeTelomereSubtelomeremedicine.diseaseeye diseasesnervous system diseasesChild PreschoolFemaleChromosome DeletionChromosomes Human Pair 7Chromosomes Human Pair 17Cytogenetic and Genome Research
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Impact of medical imaging on the epigenome – low-dose exposure in the course of computed tomography does not induce detectable changes of DNA-methyla…

2021

Computed tomography (CT) is a main contributor to artificial low-dose exposure. Understanding the biological effects induced by CT exposure and their dependency on the characteristics of photon spectra is essential for knowledge-driven risk assessment. In a previous gene expression study, we have identified upregulation of AEN, BAX, DDB2, EDA2R and FDXR after ex vivo exposure with single-energy CT and dual-energy CT (DECT). In this study, we focused on CT-induced changes of DNA methylation. This epigenetic modification of DNA is a central regulator of gene expression and instrumental in preserving genome integrity. Previous studies reported focal hypermethylation and global hypomethylation …

Pathologymedicine.medical_specialtyBlood CellsRadiological and Ultrasound Technologymedicine.diagnostic_testbusiness.industryLow doseComputed tomographyEpigenomeDNA MethylationPeripheral bloodEpigenomeDNA methylationMedical imagingHumansMedicineRadiology Nuclear Medicine and imagingTomography X-Ray ComputedbusinessEpigenomicsInternational Journal of Radiation Biology
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Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

2009

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …

medicine.medical_specialtyHypertrichosisSkin DiseasesConductive hearing impairmentDiagnosis DifferentialAblepharonAblepharon macrostomia syndromeGeneticsmedicineHumansAbnormalities MultipleChildGenetics (clinical)Macrostomiabiologybusiness.industryEctropionEyelidsGeneralized hypertrichosisSyndromemedicine.diseaseMicroblepharonbiology.organism_classificationDermatologyAbnormal external genitaliaMacrostomiaFemalesense organsbusinessAmerican journal of medical genetics. Part A
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Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

2012

Contains fulltext : 110038.pdf (Publisher’s version ) (Closed access) Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for multiple exostoses and parietal foramina in PSS, the identity of the gene(s) associated with the ID and CFA phenotypes has remained elusive. Through characterization of independent subjects with balanced translocations and supportive comparative deletion mapping of PSS subjects, we have uncovered evidence that t…

AdultMaleAdolescentGenotypePotocki–Shaffer syndromeChromosome DisordersHaploinsufficiencyBiologyHistone DeacetylasesSodium ChannelsTranslocation GeneticArticleChromatin remodelingCraniofacial Abnormalities03 medical and health sciencesSCN3A0302 clinical medicineIntellectual DisabilityNAV1.3 Voltage-Gated Sodium ChannelmedicineTranscriptional regulationGeneticsAnimalsHumansDeletion mappingGenetics(clinical)CraniofacialZebrafishGenetics (clinical)030304 developmental biologyGenetics0303 health sciencesChromosomes Human Pair 11Infant Newbornmedicine.diseaseGenetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6]Child PreschoolHomeoboxFemaleChromosome DeletionHaploinsufficiencyExostoses Multiple Hereditary030217 neurology & neurosurgeryThe American Journal of Human Genetics
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