4.4 Article

NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance

Related references

Note: Only part of the references are listed.
Review Genetics & Heredity

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

Laura Kasak et al.

Summary: About 20% of azoospermia cases have unknown causes, mainly attributed to congenital factors causing spermatogenic dysfunction and involve monogenic defects. Despite limited understanding, these loci are predicted to functionally interact and over half of the genes are also related to female reproductive issues. Exploring digenic or oligogenic and de novo mutations may improve infertility management.

HUMAN GENETICS (2021)

Article Genetics & Heredity

Mutation update for the NR5A1 gene involved in DSD and infertility

Helena Fabbri-Scallet et al.

HUMAN MUTATION (2020)

Review Endocrinology & Metabolism

Update on the genetics of differences of sex development (DSD)

Dorien Baetens et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Multidisciplinary Sciences

Predicting disease-causing variant combinations

Sofia Papadimitriou et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

Article Genetics & Heredity

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

Katie Ayers et al.

JOURNAL OF MEDICAL GENETICS (2019)

Article Biochemistry & Molecular Biology

ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations

Alexandre Renaux et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Endocrinology & Metabolism

Central adrenal insufficiency in children and adolescents

Giuseppa Patti et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Biochemistry & Molecular Biology

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Nuria Camats et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Bruce D. Gelb et al.

GENETICS IN MEDICINE (2018)

Article Genetics & Heredity

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

Laura Kasak et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Biochemistry & Molecular Biology

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Geoffrey J. Maher et al.

GENOME RESEARCH (2018)

Article Pharmacology & Pharmacy

Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

Yanning Song et al.

FRONTIERS IN PHARMACOLOGY (2018)

Article Endocrinology & Metabolism

Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age

Marina Grigorova et al.

JOURNAL OF THE ENDOCRINE SOCIETY (2017)

Article Genetics & Heredity

Genome-wide significance testing of variation from single case exomes

Amy B. Wilfert et al.

NATURE GENETICS (2016)

Article Biotechnology & Applied Microbiology

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers et al.

GENOME BIOLOGY (2016)

Article Endocrinology & Metabolism

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

Jenifer P. Suntharalingham et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency

Magdalena Avbelj Stefanija et al.

HORMONE RESEARCH IN PAEDIATRICS (2015)

Article Biochemistry & Molecular Biology

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Stefanie Eggers et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Urology & Nephrology

Population Based Nationwide Study of Hypospadias in Sweden, 1973 to 2009: Incidence and Risk Factors

Anna Skarin Nordenvall et al.

JOURNAL OF UROLOGY (2014)

Article Endocrinology & Metabolism

Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients

Noriko Nishina-Uchida et al.

HORMONE RESEARCH IN PAEDIATRICS (2013)

Article Cell Biology

Gene dosage of Otx2 is important for fertility in male mice

Rachel Larder et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2013)

Article Biochemistry & Molecular Biology

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

Kazutaka Katoh et al.

MOLECULAR BIOLOGY AND EVOLUTION (2013)

Article Endocrinology & Metabolism

A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve

Darya Gorbenko Del Blanco et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Biochemical Research Methods

Accelerated Profile HMM Searches

Sean R. Eddy

PLOS COMPUTATIONAL BIOLOGY (2011)

Article Urology & Nephrology

Decreased Expression of FGFR1, SOS1, RAF1 Genes in Cryptorchidism

N. O. Hadziselimovic et al.

UROLOGIA INTERNATIONALIS (2010)

Article Chemistry, Multidisciplinary

UCSF chimera - A visualization system for exploratory research and analysis

EF Pettersen et al.

JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)