Relatively high frequency of non-synonymousGLI2variants in patients with congenital hypopituitarism without holoprosencephaly

High Prevalence of Pituitary Magnetic Resonance Abnormalities and Gene Mutations in a Cohort of Brazilian Children with Growth Hormone Deficiency and Response to Treatment

(2012) M.G.M. Rocha et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

The Role of Sonic Hedgehog-Gli2 Pathway in the Masculinization of External Genitalia

(2011) Shinichi Miyagawa et al.   ENDOCRINOLOGY

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms

(2011) R Reynaud et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

(2011) Marcela M. França et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Direct and indirect requirements of Shh/Gli signaling in early pituitary development

(2010) Yiwei Wang et al.   DEVELOPMENTAL BIOLOGY

PROP1, HESX1, POU1F1, LHX3 and LHX4 Mutation and Deletion Screening and GH1 P89L and IVS3+1/+2 Mutation Screening in a Dutch Nationwide Cohort of Patients with Combined Pituitary Hormone Deficiency

(2010) Laura C.G. de Graaff et al.   Hormone Research in Paediatrics

Novel Heterozygous NonsenseGLI2Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

(2010) Marcela M. França et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic forms of hypopituitarism and their manifestation in the neonatal period

(2009) Kyriaki S. Alatzoglou et al.   EARLY HUMAN DEVELOPMENT

Genetic Regulation of Pituitary Gland Development in Human and Mouse

(2009) Daniel Kelberman et al.   ENDOCRINE REVIEWS

Expanding the Spectrum of Mutations inGH1andGHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency

(2009) Kyriaki S. Alatzoglou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype

(2009) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

(2008) Daniel Diaczok et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Three Novel Missense Mutations within theLHX4Gene Are Associated with Variable Pituitary Hormone Deficiencies

(2007) Roland W. Pfaeffle et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM