Associated Papers
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.
Kalish JM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation.
Gu W et al.
Cell Discovery, 2023
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations.
Bruzzaniti S et al.
Frontiers in Immunology, 2020
TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.
Brigant B et al.
International Journal of Molecular Sciences, 2018
Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder.
Karlberg S et al.
Human Reproduction (oxford, England), 2018
New intragenic rearrangements in non-Finnish mulibrey nanism.
Jobic F et al.
American Journal of Medical Genetics. Part A, 2017
TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import.
Wang W et al.
The Journal of Cell Biology, 2017
Testicular failure and male infertility in the monogenic Mulibrey nanism disorder.
Karlberg S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
High frequency of tumours in Mulibrey nanism.
Karlberg N et al.
The Journal of Pathology, 2009
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.
Doğancı T et al.
Clinical Dysmorphology, 2007
TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.
Kallijärvi J et al.
Experimental Cell Research, 2005
The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.
Kallijärvi J et al.
American Journal of Human Genetics, 2002
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.
Avela K et al.
Nature Genetics, 2000
The Importance of Early Pericardiectomy in Mulibrey Nanism Syndrome, a Case Report.
Cordova Sanchez A et al.
Journal of Investigative Medicine High Impact Case Reports, 0