Associated Papers
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M et al.
Gene, 2023
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
Tamma PL et al.
American Journal of Medical Genetics. Part A, 2023
Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.
Crouch S et al.
Blood Advances, 2022
35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
Arroyo Carrera I et al.
Clinical Genetics, 2021
Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.
Sakihama S et al.
Cancer Science, 2021
33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
Quan Y et al.
Journal of Molecular Neuroscience : Mn, 2020
Nuclear receptor corepressors in intellectual disability and autism.
Kong Y et al.
Molecular Psychiatry, 2020
Nuclear Receptor Coactivators (NCOAs) and Corepressors (NCORs) in the Brain.
Sun Z et al.
Endocrinology, 2020
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Lemattre C et al.
American Journal of Medical Genetics. Part A, 2018
Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.
Pereira-Nunes J et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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