F. Stutzmann

发表

Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene.

F. Horber, B. Balkau, D. Meyre, 2007, Human molecular genetics.

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

S. O’Rahilly, F. Horber, C. Dina, 2008, Diabetes.

Common genetic variation near MC4R is associated with eating behaviour patterns in European populations

P. Elliott, U. Sovio, F. Horber, 2009, International Journal of Obesity.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Analysis of the SIM1 Contribution to Polygenic Obesity in the French Population

C. Bogardus, B. Heude, D. Meyre, 2010, Obesity.

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

E. Souied, A. Verloes, H. Dollfus, 2012, Journal of Medical Genetics.

Combinatorial signalling controls Neurogenin2 expression at the onset of spinal neurogenesis.

F. Guillemot, P. Dollé, Laurent Bianchetti, 2008, Developmental biology.

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.

Beverley Balkau, Philippe Froguel, David Meyre, 2013, The Journal of clinical investigation.

Loss‐of‐Function Mutations in MC4R Are Very Rare in the Greek Severely Obese Adult Population

D. Meyre, P. Froguel, M. Marchand, 2012, Obesity.

Combined effects of MC4R and FTO common genetic variants on obesity in European general populations

P. Elliott, B. Balkau, D. Meyre, 2009, Journal of Molecular Medicine.

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

H. Dollfus, F. Stutzmann, A. Mockel, 2011, Progress in Retinal and Eye Research.

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays

C. Schroeder, O. Riess, M. Bonin, 2010, Breast Cancer Research and Treatment.

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

N. Katsanis, A. Toutain, C. Redin, 2011, Molecular Syndromology.

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

F. Horber, D. Meyre, P. Froguel, 2016, Diabetes Care.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.