Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Ruthie E. Amir, Ignatia B. Van den Veyver, Rebecca Schultz, +10

Annals of Neurology

Mendelian DisorderGenetic DisorderGeneticsMecp2 MutationsMutation Type +13

Structural clusters of evolutionary trace residues are statistically significant and common in proteins

Srinivasan Madabushi, Hui Yao, M. S. Marsh, +4

Journal of Molecular Biology

Evolutionary Trace ResiduesBiochemistryBiomolecular Structure PredictionProtein FoldingGenetics +10

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q

Martine Vaxillaire, Valérie Boccio, Anne Philippi, +7

Nature Genetics

Genetic DeterminantDevelopmental BiologyGenetic DisorderGeneticsDiabetes +6

Evolutionary Trace of G Protein-coupled Receptors Reveals Clusters of Residues That Determine Global and Class-specific Functions

Srinivasan Madabushi, Alecia K. Gross, Anne Philippi, +3

Journal of Biological Chemistry

Heterozygous<i>HTRA1</i>mutations are associated with autosomal dominant cerebral small vessel disease

Edgard Verdura, Dominique Hervé, Eva Scharrer, +14

Brain

A missense mutation in the glucagon receptor gene is associated with non–insulin–dependent diabetes mellitus

J. Hager, Lone Hansen, Christian Vaisse, +14

Nature Genetics

Metabolic SyndromeNon–insulin–dependent DiabetesGeneticsInherited Metabolic DiseaseDiabetes +8

Indication for Linkage of the Human <i>OB</i> Gene Region With Extreme Obesity

Karine Clément, Chad Garner, Jörg Hager, +10

Diabetes

A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.

El Habib Hani, Laurence Suaud, Philippe Boutin, +10

Journal of Clinical Investigation

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +17

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

Dominique Hervé, Anne Philippi, Reda Belbouab, +22

The American Journal of Human Genetics

Molecular PharmacologyMolecular NeuroscienceMolecular PhysiologyBiochemistryReactive Nitrogen Specie +6

A Missense Mutation in <i>PPP1R15B</i> Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo‐Esteve, +14

Diabetes

Ppp1r15b GeneShort StatureMolecular RegulationGeneticsGenetic Epidemiology +19