Wiedemann-Rautenstrauch Syndrome Latest Advances

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

Journal: Genes

Published: November 28, 2023

Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation

Journal: Problemy endokrinologii

Published: September 13, 2023

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Journal: Molecular genetics & genomic medicine

Published: April 27, 2023

Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease.

Journal: Molecular syndromology

Published: September 14, 2021

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Journal: Italian journal of pediatrics

Published: April 30, 2021

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.

Journal: American journal of medical genetics. Part A

Published: August 24, 2020

Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts.

Journal: Mechanisms of ageing and development

Published: January 30, 2020

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.

Journal: European journal of human genetics : EJHG

Published: November 28, 2019

POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS.

Journal: American journal of medical genetics. Part A

Published: January 29, 2019

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.

Journal: European journal of human genetics : EJHG

Published: January 27, 2019

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Journal: Human genetics

Published: August 24, 2018

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Journal: Journal of medical genetics

Published: June 10, 2018

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The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation

Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease.

Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease.

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.

Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts.

Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts.

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.

POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS.

POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS.

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.