Adayapalam Nandini
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View article: Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New Zealand
Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New Zealand Open
Fanconi anaemia (FA) is a rare genetic condition which predisposes to progressive bone marrow failure, a specific spectrum of malignancies including head and neck squamous cell carcinoma (HNSCC), and an array of other clinical manifestatio…
View article: Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning
Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning Open
Sesquizygotic multiple pregnancy is an exceptional intermediate between monozygotic and dizygotic twinning. We report a monochorionic twin pregnancy with fetal sex discordance. Genotyping of amniotic fluid from each sac showed that the twi…
View article: Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X‐inactivation utilizing case‐parent trio <scp>SNP</scp> microarray analysis
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X‐inactivation utilizing case‐parent trio <span>SNP</span> microarray analysis Open
Background We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X‐inactivation was observed in both the proband and her clinically normal mother. Methods Bidirectional …