Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Anu Bashamboo, Caroline Eozénou, Anne Jørgensen, +15

The American Journal of Human Genetics

The same mutation affecting the splicing ofWT1 gene is present on Frasier syndrome patients with or without Wilms' tumor

Angela Silva Barbosa, Charalambos Hadjiathanasiou, Charalambos Theodoridis, +11

Human Mutation

GeneticsPathologyMolecular GeneticsSame MutationDisease Gene Identification +14

A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility¹

Csilla Krausz, Lluís Quintana‐Murci, Sandrine Barbaux, +14

The Journal of Clinical Endocrinology & Metabolism

SpermatogenesisFertilityCytogeneticsGeneticsReproductive Health +19

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

Daniela Čiháková, Katarina Trebusak, Maarit Heino, +10

Human Mutation

Plasma growth hormone-binding activity is low in uraemic children

M C Postel-Vinay, Attila Tar, H. Crosnier, +4

Pediatric Nephrology

Growth HormonePhysiologyClinical NutritionDevelopmental EndocrinologyPediatric Endocrinology +4

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

G Vinci, Raja Brauner, Attila Tar, +6

Fertility and Sterility

InfertilityDevelopmental BiologyTspyl1 GeneCytogeneticsGenetic Disorder +10

Novel sequence variation of <i>AIRE</i> and detection of interferon‐ω antibodies in early infancy

Beáta Tóth, Anette S. B. Wolff, Zita Halász, +8

Clinical Endocrinology

A High Frequency of Y Chromosome Deletions in Males With Nonidiopathic Infertility

Csilla Krausz, Lluís Quintana‐Murci, Sandrine Barbaux, +14

Obstetrical & Gynecological Survey

SpermatogenesisFertilityCytogeneticsGeneticsReproductive Health +19

Control of Thyroglobulin Secretion in Patients with Ectopic Thyroid Gland

Juliane Léger, Attila Tar, Martin Schlumberger, +1

Pediatric Research

Thyroid DiseaseThyroglobulin SecretionThyroid HormoneEndocrinologyThyroid Physiology

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion

Attila Tar, J�nos S�lyom, Borb�la Gy�rv�ri, +7

Human Genetics

SpermatogenesisTesticular DevelopmentInfertilityEmbryologyDevelopmental Biology +12