0000000000643374

AUTHOR

Alice S. Brooks

showing 3 related works from this author

No major role for periconceptional folic acid use and its interaction with theMTHFR C677Tpolymorphism in the etiology of congenital anorectal malform…

2014

Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prevention of ARM. Therefore, we investigated independent associations and interactions of maternal periconceptional folic acid supplement use and the infant and maternal MTHFR (methylenetetrahydrofolate reductase) C677T polymorphisms with the risk of ARM and subgroups of ARM. Methods: A case-control study was conducted among 371 nonsyndromic ARM cases and 714 population-based controls born between 1990 and 2012 using maternal questionnaires and DNA…

GynecologyEmbryologymedicine.medical_specialtyeducation.field_of_studyPregnancybiologybusiness.industryObstetricsPopulationGeneral MedicineOdds ratiomedicine.diseaseConfidence intervalMethylenetetrahydrofolate reductasePediatrics Perinatology and Child HealthPediatric surgerymedicineEtiologybiology.proteinImperforate anuseducationbusinessDevelopmental BiologyBirth Defects Research Part A: Clinical and Molecular Teratology
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in fem…

2021

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals…

0301 basic medicineSHARPMaleobesitygenotype-phenotype correlationsAutism Spectrum DisorderPROTEINChromosome DisordersHaploinsufficiencyRNA-Binding ProteinPHENOTYPE CORRELATIONS1p36; distal 1p36 deletion syndrome; DNA methylome analysis; episignature; genotype-phenotype correlations; neurodevelopmental disorder; obesity; proximal 1p36 deletion syndrome; SPEN; X chromosome; Adolescent; Autism Spectrum Disorder; Child; Child Preschool; Chromosome Deletion; Chromosome Disorders; Chromosomes Human Pair 1; Chromosomes Human X; DNA Methylation; DNA-Binding Proteins; Epigenesis Genetic; Female; Haploinsufficiency; Humans; Intellectual Disability; Male; Neurodevelopmental Disorders; Phenotype; RNA-Binding Proteins; Young AdultEpigenesis GeneticX chromosome0302 clinical medicineNeurodevelopmental disorderNeurodevelopmental DisorderIntellectual disabilityMOLECULAR CHARACTERIZATIONdistal 1p36 deletion syndromeChildGenetics (clinical)X chromosomeGeneticsXDNA methylome analysiRNA-Binding ProteinsSPLIT-ENDSHypotoniaDNA-Binding ProteinsPhenotypeAutism spectrum disorderChromosomes Human Pair 1Child PreschoolDNA methylome analysisMONOSOMY 1P36Pair 1SPENFemalemedicine.symptomChromosome DeletionHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]HumanAdolescentDNA-Binding ProteinBiologygenotype-phenotype correlationChromosomes03 medical and health sciencesYoung AdultGeneticSDG 3 - Good Health and Well-beingReportIntellectual DisabilityREVEALSGeneticsmedicineHumansEpigeneticsPreschoolChromosomes Human XNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]1p361p36 deletion syndromeIDENTIFICATIONMUTATIONSproximal 1p36 deletion syndromeDNA Methylationmedicine.diseaseneurodevelopmental disorderGENEepisignature030104 developmental biologyChromosome DisorderNeurodevelopmental Disorders030217 neurology & neurosurgeryEpigenesis
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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

2019

IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…

MaleANOMALIESCandidate geneHeredityEtiologyMolecular biologylnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Pathology and Laboratory MedicineSequencing techniquesEXCLUSIONMedicine and Health SciencesExomeDNA sequencingExomeOligonucleotide Array Sequence AnalysisGeneticsSanger sequencingRISKeducation.field_of_studyMultidisciplinaryQRCongenital AnomaliesAnorectal MalformationsGenetic MappingReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]Urological cancers Radboud Institute for Health Sciences [Radboudumc 15]OBESITYsymbolsEngineering and TechnologyMedicineFemaleRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Research ArticleAdultQuality ControlCANDIDATE GENESciencePopulationVariant GenotypesBiologysymbols.namesakeSigns and SymptomsDiagnostic MedicineIndustrial EngineeringBIRTH-DEFECTSGeneticsCongenital DisordersHumansAlleleeducationGeneAllelesFistulasNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Dideoxy DNA sequencingGenetic VariationBiology and Life SciencesHuman GeneticsReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Research and analysis methodsMolecular biology techniquesBonferroni correctionFGF10Genetic LociREGISTRYEtiologyRenal disorders Radboud Institute for Health Sciences [Radboudumc 11]PLoS One
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