Associated Papers
Genetic testing for oral clefts: reflections based on a single Brazilian public genetics service.
Bueno TNB et al.
Orphanet Journal of Rare Diseases, 2025
Bone health in SATB2-associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2024
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Santana Almansa A et al.
Annals of Clinical and Translational Neurology, 2024
Genetic analysis of a child with SATB2‑associated syndrome and literature study.
Liu Q et al.
Experimental and Therapeutic Medicine, 2023
In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes.
Guo Q et al.
Pediatric Research, 2023
SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.
Copelli MM et al.
Genes, 2023
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Mouillé M et al.
Orphanet Journal of Rare Diseases, 2022
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M et al.
Annals of Clinical and Translational Neurology, 2022
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review.
Zhu YY et al.
World Journal of Clinical Cases, 2021
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H et al.
Pediatric Neurology, 2020
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
SATB2-associated syndrome in patients from Japan: Linguistic profiles.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2019
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
Schwartz E et al.
American Journal of Medical Genetics. Part A, 2017
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2017
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.
Boone PM et al.
American Journal of Medical Genetics. Part A, 2016
SATB2-associated syndrome presenting with Rett-like phenotypes.
Lee JS et al.
Clinical Genetics, 2016
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.
Kaiser AS et al.
European Journal of Human Genetics : Ejhg, 2015
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2015
Further delineation of the SATB2 phenotype.
Döcker D et al.
European Journal of Human Genetics : Ejhg, 2014
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Rainger JK et al.
Human Molecular Genetics, 2014
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
Leoyklang P et al.
Human Genetics, 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
Leoyklang P et al.
Human Mutation, 2007