Saadia Maryam Saadi
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View article: Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder
Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder Open
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. H…
View article: Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder Open
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. H…
View article: Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders Open
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with s…
View article: Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders Open
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular an…
View article: A homozygous founder variant in <scp><i>PDE2A</i></scp> causes paroxysmal dyskinesia with intellectual disability
A homozygous founder variant in <span><i>PDE2A</i></span> causes paroxysmal dyskinesia with intellectual disability Open
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM # 619150 ) is an ultra‐rare childhood‐onset autosomal recessive movement disorder manifesting paroxysmal dyskinesia, global developmental delay, impa…
View article: Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ Open
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intr…