NovelLEPRmutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing

Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing

(2013) A. Bonnefond et al.   DIABETES CARE

The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus

(2013) I R Aslan et al.   INTERNATIONAL JOURNAL OF OBESITY

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

(2013) Graeme R. Frank et al.   MOLECULAR GENETICS AND METABOLISM

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

(2013) Eleanor Wheeler et al.   NATURE GENETICS

From obesity genetics to the future of personalized obesity therapy

(2013) Julia S. El-Sayed Moustafa et al.   Nature Reviews Endocrinology

Whole-Exome sequencing identifies novelLEPRmutations in individuals with severe early onset obesity

(2013) Richard Gill et al.   Obesity

Homozygous Leptin Receptor Mutation Due to Uniparental Disomy of Chromosome 1: Response to Bariatric Surgery

(2012) Johanne Le Beyec et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families

(2012) Sadia Saeed et al.   MOLECULAR GENETICS AND METABOLISM

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

(2011) I. Mazen et al.   MOLECULAR GENETICS AND METABOLISM

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine

(2010) Alexandra I. F. Blakemore et al.   Annals of the New York Academy of Sciences

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient

(2009) I. Mazen et al.   MOLECULAR GENETICS AND METABOLISM

The genetic contribution to non-syndromic human obesity

(2009) Andrew J. Walley et al.   NATURE REVIEWS GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees

(2008) F. Stutzmann et al.   DIABETES

The Power of the Extreme in Elucidating Obesity

(2008) Philippe Froguel et al.   NEW ENGLAND JOURNAL OF MEDICINE