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Last Updated: 03/06/2025
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Found 20 publications
Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene
Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 29, 2021
Perlman syndrome research progress
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 09, 2021
The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis.
Journal: Nature communications
Published: August 19, 2019
Exonuclease requirements for mammalian ribosomal RNA biogenesis and surveillance.
Journal: Nature structural & molecular biology
Published: November 19, 2018
Overgrowth syndromes and pediatric cancers: how many roads lead to IGF2?
Journal: Genes & development
Published: August 03, 2018
Loss of Dis3l2 partially phenocopies Perlman syndrome in mice and results in up-regulation of Igf2 in nephron progenitor cells.
Journal: Genes & development
Published: April 17, 2018
Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 16, 2017
Perlman syndrome nuclease DIS3L2 controls cytoplasmic non-coding RNAs and provides surveillance pathway for maturing snRNAs.
Journal: Nucleic acids research
Published: March 24, 2016
Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.
Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: November 13, 2013
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
Journal: American journal of medical genetics. Part A
Published: October 17, 2013
Magnetic resonance imaging versus histopathology in Wilms tumor and nephroblastomatosis: 3 examples of noncorrelation.
Journal: Journal of pediatric hematology/oncology
Published: May 09, 2013
Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: April 25, 2013
Last Updated: 03/06/2025