Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects

Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly

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

Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes

(2013) Christina Tatsi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Gli2 Acetylation at Lysine 757 Regulates Hedgehog-Dependent Transcriptional Output by Preventing Its Promoter Occupancy

(2013) Sonia Coni et al.   PLoS One

Single-nucleotide variants in two Hedgehog genes,SHHandHHIP, as genetic cause of combined pituitary hormone deficiency

(2012) Darya Gorbenko del Blanco et al.   CLINICAL ENDOCRINOLOGY

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

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

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

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

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

(2011) Sietske H.G. Kevelam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel mutations associated with combined pituitary hormone deficiency

(2011) C. J. Romero et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Analysis of genotype-phenotype correlations in human holoprosencephaly

(2010) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency

(2010) Fernanda B Coeli et al.   BMC Medical Genetics

Clinical findings in patients with GLI2 mutations - phenotypic variability

(2010) CDP Bertolacini et al.   CLINICAL GENETICS

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

Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient withLHX4Deletion

(2010) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Histone deacetylase and Cullin3–RENKCTD11 ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation

(2010) Gianluca Canettieri et al.   NATURE CELL BIOLOGY

Hedgehog signalling: Emerging evidence for non-canonical pathways

(2009) Dagan Jenkins   CELLULAR SIGNALLING

Copy number variation and mosaicism

(2009) A.J. Notini et al.   CYTOGENETIC AND GENOME RESEARCH

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

The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

(2009) Erich Roessler et al.   HUMAN MUTATION

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN GENETICS