Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment

Phenotypic features and response to growth hormone treatment of patients with a molecular defect of the IGF-1 receptor

(2019) M J E Walenkamp et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children

(2019) Eric Göpel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Increasing knowledge in IGF1R defects: lessons from 35 new patients

(2019) Eloïse Giabicani et al.   JOURNAL OF MEDICAL GENETICS

Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

(2017) Stuti Tewari et al.   Molecular Cytogenetics

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

(2017) Rossella Cannarella et al.   Endocrine Connections

Treatment of autistic spectrum disorder with insulin-like growth factors

(2016) Raili Riikonen   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

(2016) Alexandra Gkourogianni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ACAN gene mutations in short children born SGA and response to Growth Hormone treatment

(2016) Manouk van der Steen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

(2016) Emma L. Wakeling et al.   Nature Reviews Endocrinology

The therapeutic potential of insulin-like growth factor-1 in central nervous system disorders

(2016) Jesse Costales et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion

(2015) Sheau Chui Ho et al.   Hormone Research in Paediatrics

NNZ-2566, a Novel Analog of (1–3) IGF-1, as a Potential Therapeutic Agent for Fragile X Syndrome

(2015) Robert M. J. Deacon et al.   NEUROMOLECULAR MEDICINE

Effects of Growth Hormone–Releasing Hormone on Cognitive Function in Adults With Mild Cognitive Impairment and Healthy Older Adults

(2012) Laura D. Baker et al.   ARCHIVES OF NEUROLOGY

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene

(2012) José I. Labarta et al.   CLINICAL ENDOCRINOLOGY

Insulin-like growth factor 1 (IGF1) and its active peptide (1–3)IGF1 enhance the expression of synaptic markers in neuronal circuits through different cellular mechanisms

(2012) Aiden P. Corvin et al.   NEUROSCIENCE LETTERS

Effect of growth hormone deficiency on brain structure, motor function and cognition

(2011) Emma A. Webb et al.   BRAIN

Effects of recombinant growth hormone (GH) replacement and psychomotor and cognitive stimulation in the neurodevelopment of GH-deficient (GHD) children with cerebral palsy: a pilot study

(2011) Jesús Devesa et al.   Therapeutics and Clinical Risk Management

Genetic Defects in the Growth Hormone?IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

(2011) Martin O. Savage et al.   Frontiers in Endocrinology

Brain Development, Intelligence and Cognitive Outcome in Children Born Small for Gestational Age

(2010) H.M.A. de Bie et al.   Hormone Research in Paediatrics

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

(2010) Tillmann Wallborn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical and Functional Characteristics of a Novel Heterozygous Mutation of theIGF1RGene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure

(2010) Jin-Ho Choi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

(2009) Wietske A. Ester et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2->qter Deletion Detected by Multiplex Ligation Probe Amplification

(2008) Marie J. E. Walenkamp et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM