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

Genetic disorders of the pituitary

(2013) Laurie E. Cohen   Current Opinion in Endocrinology Diabetes and Obesity

A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve

(2012) Darya Gorbenko Del Blanco et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The use of neuroimaging for assessing disorders of pituitary development

(2011) Natascia D. Iorgi et al.   CLINICAL ENDOCRINOLOGY

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

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

Increased Transactivation Associated withSOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

(2011) Kyriaki S. Alatzoglou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Management of children with holoprosencephaly

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

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

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

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

(2010) Ute Hehr et al.   HUMAN 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

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

Genetic Regulation of Pituitary Gland Development in Human and Mouse

(2009) Daniel Kelberman et al.   ENDOCRINE REVIEWS

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

(2009) Erich Roessler et al.   HUMAN GENETICS

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