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1988 1
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Page 1
Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD. Gazzin A, et al. Front Immunol. 2023 Dec 5;14:1303251. doi: 10.3389/fimmu.2023.1303251. eCollection 2023. Front Immunol. 2023. PMID: 38116000 Free PMC article. Review.
INTRODUCTION: Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. ...
INTRODUCTION: Mulibrey nanism (MUL) is a rare disorder caused by TRIM37 gene variants characterized by growth failure, dysmorp …
Wilms tumor with Mulibrey Nanism: A case report and review of literature.
Upasana K, Thakkar D, Gautam D, Sachdev MS, Yadav A, Kapoor R, Raghunathan V, Dhaliwal MS, Bhargava K, Nair S, Sharma J, Rastogi N, Yadav SP. Upasana K, et al. Cancer Rep (Hoboken). 2022 May;5(5):e1512. doi: 10.1002/cnr2.1512. Epub 2021 Jul 26. Cancer Rep (Hoboken). 2022. PMID: 34309235 Free PMC article. Review.
BACKGROUND: Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. ...
BACKGROUND: Mulibrey-Nanism (Muscle-liver-brain-eye Nanism = dwarfism; MUL) is a rare genetic syndrome. ...
TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.
Brigant B, Metzinger-Le Meuth V, Rochette J, Metzinger L. Brigant B, et al. Int J Mol Sci. 2018 Dec 24;20(1):67. doi: 10.3390/ijms20010067. Int J Mol Sci. 2018. PMID: 30586926 Free PMC article. Review.
TRIM37 is characterized by the presence of a RING domain, B-box motifs, and a coiled-coil region, and its C-terminal part includes the MATH domain specific to TRIM37. MULIBREY nanism is a rare autosomal recessive caused by TRIM37 mutations and characterized by sever …
TRIM37 is characterized by the presence of a RING domain, B-box motifs, and a coiled-coil region, and its C-terminal part includes the MATH …
TRIM37: a critical orchestrator of centrosome function.
Domínguez-Calvo A, Gönczy P, Holland AJ, Balestra FR. Domínguez-Calvo A, et al. Cell Cycle. 2021 Dec;20(23):2443-2451. doi: 10.1080/15384101.2021.1988289. Epub 2021 Oct 21. Cell Cycle. 2021. PMID: 34672905 Free PMC article. Review.
Loss of function mutations in the E3 ubiquitin ligase TRIM37 result in MULIBREY nanism, a disease characterized by impaired organ growth and a high propensity to develop different tumor types. ...
Loss of function mutations in the E3 ubiquitin ligase TRIM37 result in MULIBREY nanism, a disease characterized by impaired or …
Mulibrey nanism--a novel peroxisomal disorder.
Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M. Kallijärvi J, et al. Adv Exp Med Biol. 2003;544:31-7. doi: 10.1007/978-1-4419-9072-3_3. Adv Exp Med Biol. 2003. PMID: 14713209 Review. No abstract available.
Two B or not two B? Overview of the rapidly expanding B-box family of proteins.
Torok M, Etkin LD. Torok M, et al. Differentiation. 2001 Mar;67(3):63-71. doi: 10.1046/j.1432-0436.2001.067003063.x. Differentiation. 2001. PMID: 11428128 Review.
Mutations or rearrangements in several B-box family members are associated with human diseases and cancers such as familial Mediterranean fever (FMF), Optiz/BBB syndrome, acute promyelocytic leukemia, mulibrey nanism, and thyroid carcinomas. ...
Mutations or rearrangements in several B-box family members are associated with human diseases and cancers such as familial Mediterranean fe …
[Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome].
Cotton JB, Rebelle C, Bosio A, Ladreyt-Ponchon JP, Maillet J. Cotton JB, et al. Pediatrie. 1988;43(3):197-203. Pediatrie. 1988. PMID: 3057426 Review. French.
The authors report the case of two siblings with a MU.LI.BR.EY syndrome. This acronym standing for a singular type of recessive autosomal intra-uterine dwarfism, insufficiently points to the role of pericardial constriction. ...
The authors report the case of two siblings with a MU.LI.BR.EY syndrome. This acronym standing for a singular type of recessive autos …