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Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

Endocrine reviews, 2016-12, Vol.37 (6), p.609-635

2016

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Nature genetics, 2010-10, Vol.42 (10), p.851-858

2010

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Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Cell metabolism, 2011-09, Vol.14 (3), p.428-434

2011

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Human molecular genetics, 2013-11, Vol.22 (22), p.4460-4473

2013

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The Genetics and Biology of FOXL2

Sexual development, 2022-11, Vol.16 (2-3), p.184-193

Tucker, Elena J.

2022

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Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors – A systematic review

Clinical and translational science, 2024-06, Vol.17 (6), p.e13827-n/a

2024

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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

PLoS genetics, 2013, Vol.9 (12), p.e1004034-e1004034

2013

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

American journal of human genetics, 2014-02, Vol.94 (2), p.209-222

2014

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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.769-775

2011

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Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1

Journal of molecular biology, 2011-12, Vol.414 (3), p.413-426

2011

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A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

Genes, 2024-03, Vol.15 (3), p.333-333

2024

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Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

Genes, 2022-11, Vol.13 (11), p.2113

2022

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Genomic testing in premature ovarian insufficiency: proceed with caution

Biology of reproduction, 2022-11, Vol.107 (5), p.1155-1158

2022

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22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

Journal of human genetics, 2018-05, Vol.63 (5), p.691-698

2018

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HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation

Life (Basel, Switzerland), 2021-12, Vol.12 (1), p.22

2021

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Science translational medicine, 2012-01, Vol.4 (118), p.118ra10

2012

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Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice

European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1319-1328

2018

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Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

Molecular and cellular endocrinology, 2022-04, Vol.546, p.111570-111570, Article 111570

2022

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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

European journal of human genetics : EJHG, 2023-04, Vol.31 (4), p.453-460

2023

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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

Human genetics, 2021-12, Vol.140 (12), p.1733-1751

2021

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TP63‐truncating variants cause isolated premature ovarian insufficiency

Human mutation, 2019-07, Vol.40 (7), p.886-892, Article humu.23744

2019

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Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis

Molecular and cellular endocrinology, 2024-06, Vol.587, p.112212-112212, Article 112212

2024

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Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

The Genetics and Biology of FOXL2

Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors – A systematic review

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

Genomic testing in premature ovarian insufficiency: proceed with caution

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

TP63‐truncating variants cause isolated premature ovarian insufficiency

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis

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