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TranscriptomicsKLF1 null neonates display hydrops fetalis and a deranged erythroid transcriptome
We describe a case of severe neonatal anemia with kernicterus due to compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1 null human. The phenotype of severe DAT-negative non-spherocyti...
ORGANISM(S): Homo sapiens 
2015-01-01 | E-GEOD-60514 | biostudies-arrayexpress
GenomicsMiRNAs expression in human placental tissue with Hemoglobin Bart's Hydrops Fetalis Syndrome
MiRNAs expression in human placental tissue with Hemoglobin Bart's Hydrops Fetalis Syndrome
PRJNA767050 | ENA
UnknownCoronary arteriovenous fistula causing hydrops fetalis.
Not available
S-EPMC4160637 | biostudies-literature
UnknownExome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.
Not available
S-EPMC8748274 | biostudies-literature
UnknownEPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Not available
S-EPMC4966301 | biostudies-literature
UnknownHydrops fetalis associated with homozygosity for Hb Adana [alpha59(E8)Gly-->Asp (alpha2)].
Not available
S-EPMC2942774 | biostudies-literature
GenomicsMRNAs and non-coding RNAs expression in human placental tissue with Hemoglobin Bart's Hydrops Fetalis Syndrome
MRNAs and non-coding RNAs expression in human placental tissue with Hemoglobin Bart's Hydrops Fetalis Syndrome
PRJNA767034 | ENA
GenomicsMiRNAs expression in human placental tissue with Hemoglobin Bart's Hydrops Fetalis Syndrome
Hemoglobin Bart’s hydrops fetalis syndrome (BHFS) is the most severe form of α-thalassemia. Histological alternations can be observed in placenta, but placental transcriptome profile and circular RNAs have not been study in this disease. The aim of this study was to define the placental transcriptio...
ORGANISM(S): Homo sapiens 
2023-09-26 | GSE184925 | GEO
UnknownCost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.
Not available
S-EPMC9938838 | biostudies-literature
UnknownBiallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.
Not available
S-EPMC9811075 | biostudies-literature
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