George E. Tiller
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View article: Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Open
Purpose We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family …
View article: <scp>PMM2‐CDG</scp> caused by uniparental disomy: Case report and literature review
<span>PMM2‐CDG</span> caused by uniparental disomy: Case report and literature review Open
Background Phosphomannomutase 2 deficiency ( PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins. This disorder causes multisystem involvement with a high variabi…
View article: Survival Outcomes in <i>BRCA1</i> or <i>BRCA2</i> Mutation Carriers and the Influence of Triple-Negative Breast Cancer Subtype
Survival Outcomes in <i>BRCA1</i> or <i>BRCA2</i> Mutation Carriers and the Influence of Triple-Negative Breast Cancer Subtype Open
CONTEXT: Little information exists on whether breast cancer survival differs by BRCA1 or BRCA2 mutation. OBJECTIVE: To determine if the risk of subsequent breast cancer or mortality differs by BRCA1 vs BRCA2 mutation status in women with h…
View article: Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3 Open
Primary lymphedema is due to developmental and/or functional defects in the lymphatic system. It may affect any part of the body, with predominance for the lower extremities. Twenty-seven genes have already been linked to primary lymphedem…
View article: Mild orotic aciduria in <i>UMPS</i> heterozygotes: a metabolic finding without clinical consequences
Mild orotic aciduria in <i>UMPS</i> heterozygotes: a metabolic finding without clinical consequences Open
Background Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective tr…