Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

(2011) D. Lourenco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

(2010) Alexander Pearlman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Identification of SOX3 as an XX male sex reversal gene in mice and humans

(2010) Edwina Sutton et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

(2010) Mounia Tannour-Louet et al.   PLoS One

Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis

(2010) I. Georg et al.   Sexual Development

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9

(2009) Claire Lecointre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A single-array preprocessing method for estimating full-resolution raw copy numbers from all Affymetrix genotyping arrays including GenomeWideSNP 5 & 6

(2009) Henrik Bengtsson et al.   BIOINFORMATICS

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

(2009) Thomas Ohnesorg et al.   BMC GENOMICS

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

Histone modifications at human enhancers reflect global cell-type-specific gene expression

(2009) Nathaniel D. Heintzman et al.   NATURE

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

Estimation and assessment of raw copy numbers at the single locus level

(2008) H. Bengtsson et al.   BIOINFORMATICS

A GATA4/WT1 cooperation regulates transcription of genes required for mammalian sex determination and differentiation

(2008) Yoko Miyamoto et al.   BMC MOLECULAR BIOLOGY

Emerging themes and new challenges in defining the role of structural variation in human disease

(2008) Andrew J. Sharp   HUMAN MUTATION

A functional screen for genes involved in Xenopus pronephros development

(2008) Jun-ichi Kyuno et al.   MECHANISMS OF DEVELOPMENT

Characteristics of testicular dysgenesis syndrome and decreased expression ofSRYandSOX9in Frasier syndrome

(2008) Valérie Schumacher et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

(2008) Eleftheria Zeggini et al.   NATURE GENETICS

Dynamic Regulation of Mitotic Arrest in Fetal Male Germ Cells

(2007) Patrick S. Western et al.   STEM CELLS