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DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Baillière's best practice & research. Clinical endocrinology & metabolism, 2015-08, Vol.29 (4), p.607-619

2015

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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

The Journal of clinical investigation, 2017-05, Vol.127 (5), p.1700-1713

2017

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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

The Journal of clinical investigation, 2017-03, Vol.127 (3), p.942-953

2017

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Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 3 approved with reservations]

F1000 research, 2023, Vol.12, p.155-155

2023

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Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

The journal of clinical endocrinology and metabolism, 2016-01, Vol.101 (1), p.284-292

2016

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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

Nature communications, 2024-03, Vol.15 (1), p.2796-2796, Article 2796

2024

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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Human molecular genetics, 2016-08, Vol.25 (16), p.3446-3453

2016

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Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.860055-860055

2022

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Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Frontiers in pediatrics, 2020-12, Vol.8, p.619041

2020

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Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Frontiers in endocrinology (Lausanne), 2022-08, Vol.13, p.953707

2022

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Analysis of CDKN1C in fetal growth restriction and pregnancy loss [version 1; peer review: 2 approved]

F1000 research, 2019, Vol.8, p.90

2019

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Analysis of genetic variability in Turner syndrome linked to long-term clinical features

Frontiers in endocrinology (Lausanne), 2023-09, Vol.14, p.1227164-1227164

2023

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A genomic atlas of human adrenal and gonad development

Wellcome open research, 2017, Vol.2, p.25

2017

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AMPA receptor activation promotes non-amyloidogenic amyloid precursor protein processing and suppresses neuronal amyloid-β production

PloS one, 2013-10, Vol.8 (10), p.e78155-e78155

2013

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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Human molecular genetics, 2016-12, Vol.25 (23), p.5286-5286

2016

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An integrated single-cell analysis of human adrenal cortex development

JCI insight, 2023-07, Vol.8 (14)

2023

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A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

Endocrine Connections, 2022-08, Vol.11 (8), p.1-13

2022

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A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

Journal of clinical research in pediatric endocrinology, 2018-03, Vol.10 (1), p.68-73

2018

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Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency

Endocrinology, diabetes & metabolism case reports, 2021-09, Vol.2021 (1), p.1-6

2021

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Primary adrenal insufficiency: New genetic causes and their long‐term consequences

Clinical endocrinology (Oxford), 2020-01, Vol.92 (1), p.11-20

2020

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A genomic atlas of human adrenal and gonad development

Wellcome open research, 2017-10, Vol.2, p.25-25

2017

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Impact of COVID-19 lockdown on the perception of home meals and meal-related variables: A large-scale study within the Italian population during the acute phase of the pandemic

Food quality and preference, 2022-06, Vol.98, p.104488-104488, Article 104488

2022

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Human sex development: targeted technologies to improve diagnosis

Genome Biology, 2016-12, Vol.17 (1), p.257-257, Article 257

2016

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Investigating ultrastructural morphology in MIRAGE syndrome (SAMD9)-derived fibroblasts using transmission electron microscopy. [version 1; peer review: 3 approved with reservations]

F1000 research, 2023, Vol.12, p.155

2023

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DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 3 approved with reservations]

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Analysis of CDKN1C in fetal growth restriction and pregnancy loss [version 1; peer review: 2 approved]

Analysis of genetic variability in Turner syndrome linked to long-term clinical features

A genomic atlas of human adrenal and gonad development

AMPA receptor activation promotes non-amyloidogenic amyloid precursor protein processing and suppresses neuronal amyloid-β production

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

An integrated single-cell analysis of human adrenal cortex development

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency

Primary adrenal insufficiency: New genetic causes and their long‐term consequences

A genomic atlas of human adrenal and gonad development

Impact of COVID-19 lockdown on the perception of home meals and meal-related variables: A large-scale study within the Italian population during the acute phase of the pandemic

Human sex development: targeted technologies to improve diagnosis

Investigating ultrastructural morphology in MIRAGE syndrome (SAMD9)-derived fibroblasts using transmission electron microscopy. [version 1; peer review: 3 approved with reservations]

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