Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era

(2016) Qing Fang et al.   ENDOCRINE REVIEWS

Association of Mutations inSLC12A1Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism

(2016) Dong Li et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

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

DIDA: A curated and annotated digenic diseases database

(2015) Andrea M. Gazzo et al.   NUCLEIC ACIDS RESEARCH

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

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

Digenic inheritance in medical genetics

(2013) Alejandro A Schäffer   JOURNAL OF MEDICAL GENETICS

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption

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

Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function

(2012) Ana Paula Abreu et al.   MOLECULAR 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

Pituitary Stalk Dysgenesis-Induced Hypopituitarism in Adult Patients: Prevalence, Evolution of Hormone Dysfunction and Genetic Analysis

(2011) Eva Fernandez-Rodriguez et al.   NEUROENDOCRINOLOGY

WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2010) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

(2009) Julie Sarfati et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

(2008) Carine Monnier et al.   HUMAN MOLECULAR GENETICS

Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

(2008) Lindsay W. Cole et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM