Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

(2013) Shane C. Quinonez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

(2013) Flavia Amanda Costa-Barbosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

(2013) Kathryn Cox et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Disorders of sex development: new genes, new concepts

(2013) Makoto Ono et al.   Nature Reviews Endocrinology

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

(2013) Audrey Vizeneux et al.   PLoS One

Anti-Müllerian Hormone and Its Clinical Use in Pediatrics with Special Emphasis on Disorders of Sex Development

(2013) Marie Lindhardt Johansen et al.   International Journal of Endocrinology

Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions

(2012) Roberta Onesimo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sperm counts and fertility in men: a rocky road ahead

(2012) Richard M Sharpe   EMBO REPORTS

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in theNR5A1/SF-1Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

(2012) Marta Ciaccio et al.   Hormone Research in Paediatrics

Gene Mutations Associated with Anomalies of Human Gonad Formation

(2012) A. Bashamboo et al.   Sexual Development

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

(2011) Samuel D. Quaynor et al.   FERTILITY AND STERILITY

Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development

(2011) B. Köhler et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys

(2011) Raja Brauner et al.   PLoS One

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

(2011) Slimane Allali et al.   PLoS One

Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development

(2011) M. Barbaro et al.   Sexual Development

Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other Genes

(2011) Karges Beate et al.   International Journal of Endocrinology

Investigation and initial management of ambiguous genitalia

(2010) S. Faisal Ahmed et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Holistic management of DSD

(2010) Caroline E. Brain et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Cryptorchidism and hypospadias as a sign of testicular dysgenesis syndrome (TDS): Environmental connection

(2010) Jorma Toppari et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD

(2010) Kerstin N. Walter et al.   Hormone Research in Paediatrics

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

(2010) S. Ledig et al.   HUMAN REPRODUCTION

A Novel Ultrapressure Liquid Chromatography Tandem Mass Spectrometry Method for the Simultaneous Determination of Androstenedione, Testosterone, and Dihydrotestosterone in Pediatric Blood Samples: Age- and Sex-Specific Reference Data

(2010) A. E. Kulle et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

(2010) Bruno Ferraz-de-Souza et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Common variants in DGKK are strongly associated with risk of hypospadias

(2010) Loes F M van der Zanden et al.   NATURE GENETICS

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis

(2009) M Barbaro et al.   CLINICAL GENETICS

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

(2009) Birgit Köhler et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

Kallmann syndrome

(2008) Catherine Dodé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS