MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome

(2016) A. Bashamboo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Whole-Exome Sequencing Identifies HomozygousGPR161Mutation in a Family with Pituitary Stalk Interruption Syndrome

(2015) Ender Karaca et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel Lethal Form of Congenital Hypopituitarism Associated With the First RecessiveLHX4Mutation

(2015) L. C. Gregory et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Role of GLI2 in hypopituitarism phenotype

(2015) I. J. P. Arnhold et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

(2015) F. A. Correa et al.   Endocrine Connections

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

(2014) C. E. Lee et al.   BLOOD

Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

(2014) Thierry Brue et al.   BMC Medical Genetics

Novel NFKB2 Mutation in Early-Onset CVID

(2014) Yiwen Liu et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

(2013) Karin Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

(2013) Emma A. Webb et al.   BRAIN

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

(2013) Saikat Mukhopadhyay et al.   CELL

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

(2013) Annamaria Macchiaroli et al.   GENE

Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

(2013) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

(2013) S. D. Joustra et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pituitary function and glucose tolerance in a family with a PAX6 mutation

(2012) Lucie Hergott-Faure et al.   ANNALES D ENDOCRINOLOGIE

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption

(2012) Rachel Reynaud et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

(2012) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two NovelLHX3Mutations

(2012) Marie-Laure Sobrier et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

(2012) Yu Sun et al.   NATURE GENETICS

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

(2012) Masaki Takagi et al.   PLoS One

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

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

Deficit in Anterior Pituitary Function and Variable Immune Deficiency (DAVID) in Children Presenting with Adrenocorticotropin Deficiency and Severe Infections

(2011) Marie-Hélène Quentien et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Regulation of Pituitary Gland Development in Human and Mouse

(2009) Daniel Kelberman et al.   ENDOCRINE REVIEWS