4.5 Article

Identification of novel candidate genes for 46, XY disorders of sex development (DSD) using a C57BL/6J-Y-POS mouse model

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien Baetens et al.

GENETICS IN MEDICINE (2017)

Article Biochemistry & Molecular Biology

Expansion of the Gene Ontology knowledgebase and resources

S. Carbon et al.

NUCLEIC ACIDS RESEARCH (2017)

Article Endocrinology & Metabolism

Genetics of Disorders of Sex Development The DSD-TRN Experience

Emmanuele C. Delot et al.

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2017)

Review Genetics & Heredity

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature

Andrea Granados et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2017)

Editorial Material Developmental Biology

Of sex and determination: marking 25 years of Randy, the sex-reversed mouse

Peter Koopman et al.

DEVELOPMENT (2016)

Article Endocrinology & Metabolism

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

Peter A. Lee et al.

HORMONE RESEARCH IN PAEDIATRICS (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

New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex Development

H. Barseghyan et al.

HORMONE AND METABOLIC RESEARCH (2015)

Article Biochemistry & Molecular Biology

FGFR2 mutation in 46, XY sex reversal with craniosynostosis

Stefan Bagheri-Fam et al.

HUMAN MOLECULAR GENETICS (2015)

Article Endocrinology & Metabolism

Exome Sequencing for the Diagnosis of 46, XY Disorders of Sex Development

Ruth M. Baxter et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Veterinary Sciences

Ontogenic and morphological study of gonadal formation in genetically-modified sex reversal XYPOS mice

Yuria Umemura et al.

JOURNAL OF VETERINARY MEDICAL SCIENCE (2015)

Article Genetics & Heredity

Regulation of Sex Determination in Mice by a Non-coding Genomic Region

Valerie A. Arboleda et al.

GENETICS (2014)

Article Medicine, General & Internal

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Review Endocrinology & Metabolism

Genetic regulation of mammalian gonad development

Stefanie Eggers et al.

NATURE REVIEWS ENDOCRINOLOGY (2014)

Article Medicine, General & Internal

Mutant Cohesin in Premature Ovarian Failure

Sandrine Caburet et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Multidisciplinary Sciences

Cryptorchidism and Infertility in Rats with Targeted Disruption of the Adamts16 Locus

Shakila Abdul-Majeed et al.

PLOS ONE (2014)

Article Genetics & Heredity

Elements of Morphology: Standard Terminology for the External Genitalia

Raoul C. M. Hennekam et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Article Genetics & Heredity

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm et al.

GENETICS IN MEDICINE (2013)

Review Endocrinology & Metabolism

Disorders of sex development: new genes, new concepts

Makoto Ono et al.

NATURE REVIEWS ENDOCRINOLOGY (2013)

Article Medicine, General & Internal

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Obstetrics & Gynecology

Psychological Aspects of the Treatment of Patients with Disorders of Sex Development

David E. Sandberg et al.

SEMINARS IN REPRODUCTIVE MEDICINE (2012)

Article Developmental Biology

The GUDMAP database - an online resource for genitourinary research

Simon D. Harding et al.

DEVELOPMENT (2011)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Biotechnology & Applied Microbiology

A scaling normalization method for differential expression analysis of RNA-seq data

Mark D. Robinson et al.

GENOME BIOLOGY (2010)

Article Biochemical Research Methods

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

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Article Developmental Biology

Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice

Dagmar Wilhelm et al.

MECHANISMS OF DEVELOPMENT (2009)

Review Developmental Biology

Long-Term Outcome of Disorders of Sex Development

G. L. Warne

SEXUAL DEVELOPMENT (2008)

Article Pediatrics

Consensus statement on management of intersex disorders

Peter A. Lee et al.

PEDIATRICS (2006)

Article Reproductive Biology

Homozygous inactivation of Sox9 causes complete XY sex reversal in mice

F Barrionuevo et al.

BIOLOGY OF REPRODUCTION (2006)

Article Developmental Biology

Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-YDOM sex reversal

M Bullejos et al.

DEVELOPMENTAL BIOLOGY (2005)

Review Endocrinology & Metabolism

The genetics of male undermasculinization

SF Ahmed et al.

CLINICAL ENDOCRINOLOGY (2002)

Article Multidisciplinary Sciences

Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

WM Bi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)

Article Anatomy & Morphology

Spatially dynamic expression of Sry in mouse genital ridges

M Bullejos et al.

DEVELOPMENTAL DYNAMICS (2001)