H. Brumm

发表

Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo

W. Wurst, H. Biebermann, M. Klingenspor, 2011, The Pharmacogenomics Journal.

A Heterozygous Mutation in the Third Transmembrane Domain Causes a Dominant-Negative Effect on Signalling Capability of the MC4R

J. Hebebrand, A. Hinney, K. Widhalm, 2008, Obesity Facts.

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity

H. Biebermann, C. Roth, Zhen‐Chuan Fan, 2009, Endocrine.

Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside‐Mediated Read‐Through

J. Hebebrand, A. Hinney, A. Grüters, 2012, Obesity.

A NOVEL MUTATION Thr 162 Arg OF THE MELANOCORTIN 4 RECEPTOR GENE IN A SPANISH CHILDREN AND ADOLESCENTS POPULATION

A. Martí, J. Hebebrand, A. Hinney, 2010 .

A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population

A. Martí, J. Martínez, J. Hebebrand, 2007, Clinical endocrinology.

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

D. Prayer, J. Hebebrand, A. Hinney, 2007, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Increased constraints on MC4R during primate and human evolution

M. Stoneking, J. Hebebrand, A. Hinney, 2008, Human Genetics.

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

T. Meitinger, M. Platzer, T. Illig, 2006, The Journal of clinical endocrinology and metabolism.

Increased constraints on MC4R during primate and human evolution

M. Stoneking, J. Hebebrand, A. Hinney, 2008, Human Genetics.

Congenital Central Hypothyroidism due to Homozygous Thyrotropin β 313ΔT Mutation Is Caused by a Founder Effect

A. Pfeufer, A. Grüters, H. Biebermann, 2002 .

Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

A. Pfeufer, A. Grüters, H. Biebermann, 2002, The Journal of clinical endocrinology and metabolism.

Do Common Variants Separate between Obese Melanocortin-4 Receptor Gene Mutation Carriers and Non-Carriers? The Impact of Cryptic Relatedness

T. Illig, H. Grallert, J. Hebebrand, 2012, Hormone Research in Paediatrics.

Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13

T. Meitinger, M. Platzer, J. Hebebrand, 2007, BMC Genetics.

Lifestyle Intervention in Obese Children With Variations in the Melanocortin 4 Receptor Gene

J. Hebebrand, A. Hinney, H. Biebermann, 2009, Obesity.

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.

Thomas Gudermann, Torsten Schöneberg, T. Gudermann, 2007, Endocrinology.

Contents Vol. 77, 2012

F. Kronenberg, V. Tillmann, T. Stijnen, 2012, Hormone Research in Paediatrics.

Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside‐Mediated Read‐Through

J. Hebebrand, A. Hinney, A. Grüters, 2012, Obesity.

Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13

T. Meitinger, M. Platzer, J. Hebebrand, 2007, BMC Genetics.