Phenotypic Variability in a Family with Aicardi-Goutières Syndrome Due to the Common A177T <i>RNASEH2B</i> Mutation

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Case Reports in Clinical Medicine

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"Phenotypic Variability in a Family with Aicardi-Goutières Syndrome Due to the Common A177T RNASEH2B Mutation"
written by Victoria Tüngler, Franziska Schmidt, Steve Hieronimus, Claudio Reyes-Velasco, Min Ae Lee-Kirsch,
published by Case Reports in Clinical Medicine, Vol.3 No.3, 2014

has been cited by the following article(s):

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[1]	Disorders of Nucleotide Metabolism
	Kirsch, V Tüngler, S Orcesi, D Tonduti - Physician's Guide to the …, 2022

[2]	Aicardi–Goutières Syndrome Type 2: A Report on Two Cases with Different Phenotypes Caused by RNASEH2B Gene Mutations
	2020

[3]	Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review
	2019

[4]	Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene
	European Journal of Paediatric Neurology, 2018

[5]	Cerebral palsy: not always what it seems
	2018

[6]	Type 1 Diabetes and Type 1 Interferonopathies: Localization of a Type 1 Common Thread of Virus Infection in the Pancreas
	EBioMedicine, 2017

[7]	Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response
	The EMBO journal, 2016

[8]	The Type I Interferonopathies
	2016

[9]	Type I interferonopathies—an expanding disease spectrum of immunodysregulation
	Seminars in immunopathology, 2015

[10]	Klinische Symptome und Pathogenese der Typ-1-Interferonopathien
	Monatsschrift Kinderheilkunde, 2015

[11]	Clinical symptoms and pathogenesis of type I interferonopathies
	Wolff… - Monatsschrift …, 2015

[12]	Typ-1-Interferonopathien
	Arthritis und Rheuma, 2014

[1]	The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First‐Line Genetic Test for Aicardi‐Goutières Syndrome: A Case Series of Four Moroccan Families American Journal of Medical Genetics Part A, 2025 DOI:10.1002/ajmg.a.63997

[2]	Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases 2022 DOI:10.1007/978-3-030-67727-5_14

[3]	Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review Journal of Clinical Medicine, 2019 DOI:10.3390/jcm8050750

[4]	Cerebral palsy: not always what it seems Archives of Disease in Childhood, 2019 DOI:10.1136/archdischild-2018-315633

[5]	Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review Journal of Clinical Medicine, 2019 DOI:10.3390/jcm8050750

[6]	Cerebral palsy: not always what it seems Archives of Disease in Childhood, 2019 DOI:10.1136/archdischild-2018-315633

[7]	The Type I Interferonopathies Annual Review of Medicine, 2017 DOI:10.1146/annurev-med-050715-104506

[8]	Type 1 Diabetes and Type 1 Interferonopathies: Localization of a Type 1 Common Thread of Virus Infection in the Pancreas EBioMedicine, 2017 DOI:10.1016/j.ebiom.2017.06.014

[9]	Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene European Journal of Paediatric Neurology, 2017 DOI:10.1016/j.ejpn.2017.11.003

[10]	Ribonuclease H2 mutations induce a cGAS / STING ‐dependent innate immune response The EMBO Journal, 2016 DOI:10.15252/embj.201593339

[11]	Type I interferonopathies—an expanding disease spectrum of immunodysregulation Seminars in Immunopathology, 2015 DOI:10.1007/s00281-015-0500-x

[12]	Klinische Symptome und Pathogenese der Typ-1-Interferonopathien Monatsschrift Kinderheilkunde, 2015 DOI:10.1007/s00112-015-3478-5

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