Literature DB >> 6248277

A case of Mulibrey nanism with associated Wilms' tumor.

S Similä, M Timonen, E Heikkinen.   

Abstract

The occurrence of a nephroblastoma in a 2-year-old girl with Mulibrey nanism is reported. As this tumor has also been reported in some other "mesodermal dysgenesis" syndromes, it seems probable that patients with this form of congenital disease run an abnormally high risk of Wilms' tumor.

Entities:  

Mesh：

Year:  1980        PMID： 6248277     DOI： 10.1111/j.1399-0004.1980.tb00109.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

1.  TRIM37 deficiency induces autophagy through deregulating the MTORC1-TFEB axis.

Authors:  Wei Wang; Zhijie Xia; Jean-Claude Farré; Suresh Subramani
Journal:  Autophagy       Date:  2018-08-21       Impact factor: 16.016

Review 2.  Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.

Authors:  R H Scott; C A Stiller; L Walker; N Rahman
Journal:  J Med Genet       Date:  2006-05-11       Impact factor: 6.318

3.  The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.

Authors:  Jukka Kallijärvi; Kristiina Avela; Marita Lipsanen-Nyman; Ismo Ulmanen; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2002-04-05       Impact factor: 11.025

4.  Mulibrey nanism: clinical features and diagnostic criteria.

Authors:  N Karlberg; H Jalanko; J Perheentupa; M Lipsanen-Nyman
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

Review 5.  Wilms tumor with Mulibrey Nanism: A case report and review of literature.

Authors:  Karthik Upasana; Dhwanee Thakkar; Dheeraj Gautam; Manvinder Singh Sachdev; Anjali Yadav; Rohit Kapoor; Veena Raghunathan; Maninder Singh Dhaliwal; Kartikeya Bhargava; Sandhya Nair; Jaiprakash Sharma; Neha Rastogi; Satya Prakash Yadav
Journal:  Cancer Rep (Hoboken)       Date:  2021-07-26

6.  Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism.

Authors:  Kaisa M Kettunen; Riitta Karikoski; Riikka H Hämäläinen; Teija T Toivonen; Vasily D Antonenkov; Natalia Kulesskaya; Vootele Voikar; Maarit Hölttä-Vuori; Elina Ikonen; Kirsi Sainio; Anu Jalanko; Susann Karlberg; Niklas Karlberg; Marita Lipsanen-Nyman; Jorma Toppari; Matti Jauhiainen; J Kalervo Hiltunen; Hannu Jalanko; Anna-Elina Lehesjoki
Journal:  Biol Open       Date:  2016-05-15       Impact factor: 2.422
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.