The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism

Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly

(2014) Kelly A Bear et al.   JOURNAL OF MEDICAL GENETICS

Sox2+ Stem/Progenitor Cells in the Adult Mouse Pituitary Support Organ Homeostasis and Have Tumor-Inducing Potential

(2013) Cynthia Lilian Andoniadou et al.   Cell Stem Cell

Pax3 synergizes with Gli2 and Zic1 in transactivating the Myf5 epaxial somite enhancer

(2013) Charis L. Himeda et al.   DEVELOPMENTAL BIOLOGY

Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency

(2013) G. M. C. Flemming et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2012) Marcela M. França et al.   CLINICAL ENDOCRINOLOGY

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism

(2012) Satoshi Narumi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

(2011) Nilrat Wannasilp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH

(2011) Daniel E. Pineda-Alvarez et al.   HUMAN GENETICS

NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

(2011) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

(2011) C. Gaston-Massuet et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

(2010) Lucilene Arilho Ribeiro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Management of children with holoprosencephaly

(2010) Eric B. Levey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical findings in patients with GLI2 mutations - phenotypic variability

(2010) CDP Bertolacini et al.   CLINICAL GENETICS

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

(2010) Yiwei Wang et al.   DEVELOPMENTAL BIOLOGY

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

Genetic Regulation of Pituitary Gland Development in Human and Mouse

(2009) Daniel Kelberman et al.   ENDOCRINE REVIEWS

CFC1 mutations in Chinese children with congenital heart disease

(2009) Binbin Wang et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Recent progress in the study of Hedgehog signaling

(2008) Gang Ma et al.   Journal of Genetics and Genomics

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

(2008) Yongsu Jeong et al.   NATURE GENETICS