Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

(2010) Line T. Sehested et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Primary ovarian insufficiency

(2010) Michel De Vos et al.   LANCET

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure

(2009) Anne Bachelot et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

(2009) G. Meduri et al.   HUMAN REPRODUCTION

Mutations inNR5A1Associated with Ovarian Insufficiency

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

Primary Ovarian Insufficiency

(2009) Lawrence M. Nelson   NEW ENGLAND JOURNAL OF MEDICINE

Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure

(2008) Han Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 12Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea

(2008) Elena Rossi et al.   European Journal of Medical Genetics

Mutation analysis of NOBOX homeodomain in chinese women with premature ovarian failure

(2008) Yingying Qin et al.   FERTILITY AND STERILITY