An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

(2016) Fatma Dursun et al.   Journal of Clinical Research in Pediatric Endocrinology

Coenzyme Q10 restores oocyte mitochondrial function and fertility during reproductive aging

(2015) Assaf Ben-Meir et al.   AGING CELL

Clinical Validation of Targeted Next-Generation Sequencing for Inherited Disorders

(2015) Sophia Yohe et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

(2015) Giulia Soldà et al.   JOURNAL OF HUMAN GENETICS

Spectrum of combined respiratory chain defects

(2015) Johannes A. Mayr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical Review of 95 Patients with 46,XX Disorders of Sex Development Based on the New Chicago Classification

(2015) Gönül Öcal et al.   Journal of Pediatric and Adolescent Gynecology

Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder

(2015) Ritesh K. Agrawala et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

(2015) Saleem Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency

(2015) Xiumei Zhen et al.   PLoS One

Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome

(2014) John M. Opitz   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

(2014) Daniel S Lieber et al.   BMC Medical Genetics

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

(2014) Raja Brauner et al.   EUROPEAN JOURNAL OF PEDIATRICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

(2013) S. Gispert et al.   HUMAN MOLECULAR GENETICS

Genotype and Phenotype Heterogeneity in Perrault Syndrome

(2013) Min Jeong Kim et al.   Journal of Pediatric and Adolescent Gynecology

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

(2013) Magdalena Badura-Stronka et al.   MITOCHONDRION

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria

(2012) Mir Reza Bekheirnia et al.   GENE

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss

(2012) Nicolás Gutiérrez Cortés et al.   HUMAN MUTATION

Perrault syndrome: further evidence for genetic heterogeneity

(2011) Emma M. Jenkinson et al.   JOURNAL OF NEUROLOGY

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

(2008) Sandrine Marlin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Perrault Syndrome With Progressive Nervous System Involvement

(2008) Carsten Kobe et al.   CLINICAL NUCLEAR MEDICINE