Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

(2010) Matthew B. Lanktree et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

(2010) M G Teles et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

(2010) Patricia N Pugliese-Pires et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

(2010) Olga V. Fofanova-Gambetti et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

LIN28Bin Constitutional Delay of Growth and Puberty

(2010) Johanna Tommiska et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature

(2010) Hiroshi Inoue 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

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

The role of ghrelin and ghrelin-receptor gene variants and promoter activity in type 2 diabetes

(2009) Edwin A Garcia et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor

(2009) Jacques Pantel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pharmacological Characterization of Human Incretin Receptor Missense Variants

(2009) J.-P. Fortin et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Identification of the Acyltransferase that Octanoylates Ghrelin, an Appetite-Stimulating Peptide Hormone

(2008) Jing Yang et al.   CELL

Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene.

(2008) I Banerjee et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation

(2008) J.M. Wit et al.   GROWTH HORMONE & IGF RESEARCH

A Common Human μ-Opioid Receptor Genetic Variant Diminishes the Receptor Signaling Efficacy in Brain Regions Processing the Sensory Information of Pain

(2008) Bruno Georg Oertel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Consensus Statement on the Diagnosis and Treatment of Children with Idiopathic Short Stature: A Summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop

(2008) P. Cohen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Link Between Body Fat and the Timing of Puberty

(2008) Paul B. Kaplowitz   PEDIATRICS

Ghrelin octanoylation mediated by an orphan lipid transferase

(2008) J. A. Gutierrez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Patterns of Inheritance of Constitutional Delay of Growth and Puberty in Families of Adolescent Girls and Boys Referred to Specialist Pediatric Care

(2007) Karoliina Wehkalampi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM