18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

scientific article published on 25 February 2020

18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/MGG3.1192
P932PMC publication ID7196488
P698PubMed publication ID32096599

P50authorNina Kaminen-AholaQ58324259
P2093author name stringRaili Riikonen
Kristiina Avela
Hanna Kahila
Pauliina Auvinen
Heidi Marjonen
P2860cites workPlacentas from pregnancies conceived by IVF/ICSI have a reduced DNA methylation level at the H19 and MEST differentially methylated regions.Q50763500
A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.Q51825078
18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.Q51922239
Methylation profiling in individuals with Russell-Silver syndrome.Q54697884
Parental imprinting of the mouse insulin-like growth factor II gene.Q55052428
rs10732516 polymorphism at the IGF2/H19 locus associates with genotype-specific effects on placental DNA methylation and birth weight of newborns conceived by assisted reproductive technology.Q55354109
Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic mapQ57774975
Copy number variation in fetal alcohol spectrum disorderQ63869146
Difference in susceptibility to teratogenic effects of alcohol in discordant twins exposed to alcohol during the second half of gestationQ72124377
Brain perfusion SPECT and MRI in foetal alcohol syndromeQ73247188
rs10732516 polymorphism at the IGF2/H19 locus associates with a genotype-specific trend in placental DNA methylation and head circumference of prenatally alcohol-exposed newbornsQ92515229
CTCF: master weaver of the genomeQ24621388
H19 acts as a trans regulator of the imprinted gene network controlling growth in miceQ28505959
DNA methylation and human diseaseQ29615417
BiQ Analyzer: visualization and quality control for DNA methylation data from bisulfite sequencing.Q31002908
Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvementsQ33298863
Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse modelQ33525013
Fetal alcohol spectrum disorders and their transmission through genetic and epigenetic mechanismsQ33694077
Fetal alcohol syndrome in twins of alcoholic mothers: concordance of diagnosis and IQ.Q34061128
372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.Q34254326
Refining analyses of copy number variation identifies specific genes associated with developmental delayQ34254472
DNA methylation signature of human fetal alcohol spectrum disorder.Q37050340
DNA methylation changes at infertility genes in newborn twins conceived by in vitro fertilisationQ37719658
The Genetics of Fetal Alcohol Spectrum DisordersQ38819476
Identification of DNA adducts of acetaldehyde.Q43510297
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesQ43668760
Maternal genetic effects on ethanol teratogenesis and dominance of relative embryonic resistance to malformationsQ44839768
Ethanol feeding of micropigs alters methionine metabolism and increases hepatocellular apoptosis and proliferationQ46986722
Association of in vitro fertilization with global and IGF2/H19 methylation variation in newborn twins.Q48204198
Utility of Genetic Testing in Fetal Alcohol Spectrum DisorderQ49345121
Alcohol and endogenous aldehydes damage chromosomes and mutate stem cellsQ50093546
P921main subjectfetal alcohol syndromeQ400277
P304page(s)e1192
P577publication date2020-02-25
P1433published inMolecular genetics & genomic medicineQ27724709
P1476title18q12.3-q21.1 microdeletion detected in the prenatally alcohol-exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

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