Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics

Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment

(2019) Peter Kühnen et al.   TRENDS IN MOLECULAR MEDICINE

Characterization of rare variants in MC4R in African American and/or Latino children with severe early onset obesity

(2019) Maria Caterina De Rosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel Mutations in Obesity-Related Genes in Turkish Children with Non-Syndromic Early Onset Severe Obesity: A Multicentre Study

(2019) Ayşehan Akıncı et al.   Journal of Clinical Research in Pediatric Endocrinology

Homeostasis Model Assessment cut-off points related to metabolic syndrome in children and adolescents: a systematic review and meta-analysis

(2019) Paola Arellano-Ruiz et al.   EUROPEAN JOURNAL OF PEDIATRICS

Depression increases the genetic susceptibility to high body mass index: Evidence from UK Biobank

(2019) Anwar Mulugeta et al.   DEPRESSION AND ANXIETY

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

(2019) M.I. Cooiman et al.   OBESITY SURGERY

Updates on Monogenic Obesity in a Multifactorial Disease

(2019) Jared Baxter et al.   OBESITY SURGERY

MC4R Single Nucleotide Polymorphisms Were Associated with Metabolically Healthy and Unhealthy Obesity in Chinese Northern Han Populations

(2019) Luying Gao et al.   International Journal of Endocrinology

MC4R deficiency in pigs results in hyperphagia and ultimately hepatic steatosis without high-fat diet

(2019) Haiyang Hao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

(2018) Max Drabkin et al.   BMC Medical Genetics

Genetics of Severe Obesity

(2018) Una Fairbrother et al.   Current Diabetes Reports

OUP accepted manuscript

(2018)   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Flynn JT, Kaelber DC, Baker-Smith CM, et al; Subcommittee on Screening and Management of High Blood Pressure in Children. Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents. Pediatrics. 2017;140(3):e20171904

(2018)   PEDIATRICS

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

(2017) Selma Tunç et al.   Journal of Clinical Research in Pediatric Endocrinology

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency

(2017) Tinh-Hai Collet et al.   Molecular Metabolism

Classification and clinical characterization of metabolically “healthy” obese children and adolescents

(2016) Liene Bervoets et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Reference ranges of HOMA-IR in normal-weight and obese young Caucasians

(2015) Blegina Shashaj et al.   ACTA DIABETOLOGICA

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

Role of ADHD symptoms as a contributing factor to obesity in patients with MC4R mutations

(2015) Maria-Cristina Porfirio et al.   MEDICAL HYPOTHESES

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Reference Values for Weight, Height, Head Circumference, and Body Mass Index in Turkish Children

(2015) Olcay Neyzi et al.   Journal of Clinical Research in Pediatric Endocrinology

The absence of insulin resistance in metabolic syndrome definition leads to underdiagnosing of metabolic risk in obese patients

(2012) Selim Kurtoglu et al.   EUROPEAN JOURNAL OF PEDIATRICS

Strong influence of variants near MC4R on adiposity in children and adults: a cross-sectional study in Indian population

(2012) Om Prakash Dwivedi et al.   JOURNAL OF HUMAN GENETICS

NPY and MC4R Signaling Regulate Thyroid Hormone Levels during Fasting through Both Central and Peripheral Pathways

(2011) Kristen R. Vella et al.   Cell Metabolism

Melanocortin-4 Receptor Polymorphisms in Turkish Pediatric Obese Patients

(2010) Duygu Ozel Demiralp et al.   CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: A newly described expression of MC4R deficiency

(2008) Anat Agranat-Meged et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS