Associated Papers
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Siegert S et al.
Pediatric Neurology, 2024
SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.
Álvarez-Salafranca M et al.
The Australasian Journal of Dermatology, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V et al.
Journal of Medical Genetics, 2022
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2022
35768194 (PubMed )
Supplement: jmedgenet-2021-108385supp004.pdf
Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.
Bennett JA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
34131293 (PubMed )
Supplement: NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx › Sheet1
Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.
Chen Y et al.
Frontiers in Oncology, 2022
Molecular-Clinical Correlation in Pediatric Medulloblastoma: A Cohort Series Study of 52 Cases in Taiwan.
Wu KS et al.
Cancers, 2020
32168907 (PubMed )
Supplement: cancers-12-00653-s001.zip › cancers-720756-suppl-XML › cancers-720756-Table_S2.xlsx › ___1
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L et al.
Neuro-oncology, 2018
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM et al.
The Lancet. Oncology, 2018
29753700 (PubMed )
Supplement: mmc1.pdf
Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.
Yi Z et al.
Scientific Reports, 2017
28729728 (PubMed )
Supplement: 41598_2017_6327_MOESM1_ESM.pdf
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
Brugières L et al.
Journal of Medical Genetics, 2010
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