4.6 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Jennifer A. Wambach et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

Stefano Paolacci et al.

JOURNAL OF MEDICAL GENETICS (2018)

Article Medicine, Research & Experimental

Dysfunction of the MDM2/p53 axis is linked to premature aging

Davor Lessel et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)

Article Genetics & Heredity

Wiedemann-Rautenstrauch syndrome: A phenotype analysis

Stefano Paolacci et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Article Genetics & Heredity

Neonatal Progeriod Syndrome Associated with Biallelic Truncating Variants in POLR3A

Allison M. Jay et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Editorial Material Biochemistry & Molecular Biology

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy

Eberhard Passarge et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Clara Soria-Valles et al.

JOURNAL OF MEDICAL GENETICS (2016)

Article Genetics & Heredity

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Davor Lessel et al.

HUMAN MUTATION (2015)

Article Genetics & Heredity

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

F. S. Van Dijk et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Biochemistry & Molecular Biology

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Claire Laure Navarro et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

Article Clinical Neurology

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Nicole I. Wolf et al.

NEUROLOGY (2014)

Article Endocrinology & Metabolism

Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Aikaterini Dimopoulou et al.

MOLECULAR GENETICS AND METABOLISM (2013)

Article Genetics & Heredity

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Genevieve Bernard et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

Xose S. Puente et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

Marfan Syndrome With Neonatal Progeroid Syndrome-Like Lipodystrophy Associated With a Novel Frameshift Mutation at the 3′ Terminus of the FBN1-Gene

Luitgard M. Graul-Neumann et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Article Endocrinology & Metabolism

Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

Abhimanyu Garg et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Genetics & Heredity

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade et al.

NATURE GENETICS (2009)

Article Medicine, General & Internal

LMNA mutations in atypical Werner's syndrome

LS Chen et al.

LANCET (2003)

Article Multidisciplinary Sciences

Lamin A truncation in Hutchinson-Gilford progeria

A De Sandre-Giovannoli et al.

SCIENCE (2003)