A. Philippi

发表

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

O. Lichtarge, H. Yao, D. Kristensen, 2002, Journal of molecular biology.

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

P. Boutin, P. Froguel, A. Philippi, 1998, The Journal of clinical investigation.

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

O. Lichtarge, E. Meng, Srinivasan Madabushi, 2004, Journal of Biological Chemistry.

Evolutionary traces of functional surfaces along G protein signaling pathway.

Olivier Lichtarge, O. Lichtarge, M. Sowa, 2002, Methods in enzymology.

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.

S. Roman, H. Chabriat, C. Sainte-Rose, 2014, American journal of human genetics.

Genetic analyses of glucose transporter genes in French non-insulin-dependent diabetic families.

P. Froguel, H. Zouali, S. Lesage, 1997, Diabetes & metabolism.

Indication for genetic linkage of the phosphoenolpyruvate carboxykinase (PCK1) gene region on chromosome 20q to non-insulin-dependent diabetes mellitus.

P. Froguel, H. Zouali, A. Philippi, 1996, Diabetes & metabolism.

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia

J. Ferrières, A. Philippi, P. Giral, 2022, International journal of molecular sciences.

On Confidence Intervals for Genotype Relative Risks and Attributable Risks from Case Parent Trio Designs for Candidate-Gene Studies

I. König, A. Ziegler, A. Philippi, 2005, Human Heredity.

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

J. Beckmann, J. Terwilliger, G. Lathrop, 1995, Nature Genetics.

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

G. Velho, C. Carcassi, C. Carcassi, 1995, Nature Genetics.

Indication for Linkage of the Human OB Gene Region With Extreme Obesity

K. Clément, L. Cardon, P. Froguel, 1996, Diabetes.

Linkage Analyses of the MODY3 Locus on Chromosome 12q With Late-Onset NIDDM

P. Froguel, M. Vaxillaire, S. Lesage, 1995, Diabetes.

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

M. Dichgans, M. Amador, H. Chabriat, 2015, Brain : a journal of neurology.

Mutations and variants of ONECUT1 in diabetes

Kyle J. Gaulton, Gopika G. Nair, B. Kuster, 2021, Nature Medicine.

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

H. Zoghbi, O. Lichtarge, A. Philippi, 2000, Annals of neurology.

Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.

P. Gorwood, N. Ramoz, A. Chédotal, 2008, Human molecular genetics.

Genetic Studies of the Sulfonylurea Receptor Gene Locus in NIDDM and in Morbid Obesity Among French Caucasians

K. Clément, M. Permutt, C. Dina, 1997, Diabetes.

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

A. Philippi, J. Hager, P. Gesnouin, 2007, BMC Medical Genetics.

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure

J. Soulier, C. Julier, P. Marchetti, 2017, Diabetes.

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

A. Philippi, R. Favis, J. Hager, 2009, BMC Genetics.

Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome

J. C. Wolters, A. von Eckardstein, L. Rohrer, 2021, Circulation research.

Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism

A. Philippi, J. Hager, J. Saraiva, 2005, Molecular Psychiatry.

A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene.

J. Beckmann, P. Froguel, H. Zouali, 1997, Human molecular genetics.

Genetic model‐free linkage analysis using the maximum‐likelihood‐binomial method for categorical traits

A. Philippi, L. Abel, A. Alcaïs, 1999, Genetic epidemiology.

Estimating haplotype relative risks in complex disease from unphased SNPs data in families using a likelihood adjusted for ascertainment

A. Philippi, J. Carayol, F. Tores, 2006, Genetic epidemiology.

Mapping NIDDM Susceptibility Loci in French Families: Studies With Markers in the Region of NIDDM1 on Chromosome 2q

P. Froguel, A. Philippi, J. Hager, 1997, Diabetes.

Affected sib‐pair tests for linkage: Type I errors with dependent sib‐pairs

A. Philippi, F. Demenais, Maria Martinez, 1997, Genetic epidemiology.

Lysine 270 in the third intracellular domain of the oxytocin receptor is an important determinant for G alpha(q) coupling specificity.

O. Lichtarge, A. Philippi, Ming Yang, 2002, Molecular endocrinology.

Candidate gene approach of familial morbid obesity: linkage analysis of the glucocorticoid receptor gene.

K. Clément, A. Philippi, B. Guy-grand, 1996, International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity.

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

A. Hattersley, C. Julier, D. Eizirik, 2015, Diabetes.

Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation

C. Julier, A. Philippi, C. Derbois, 2017, Genes.

DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.

C. Julier, P. Marchetti, D. Eizirik, 2021, European journal of endocrinology.

Evolution of neural precursor selection: functional divergence of proneural proteins

Bassem A. Hassan, O. Lichtarge, B. Hassan, 2004, Development.

Genetics of NIDDM in France: Studies With 19 Candidate Genes in Affected Sib Pairs

M. Permutt, M. Stoffel, P. Froguel, 1997, Diabetes.

Indication of linkage of serum IgE levels to the interleukin‐4 gene and exclusion of the contribution of the (–590 C to T) interleukin‐4 promoter polymorphism to IgE variation

A. Philippi, A. Walley, F. Demenais, 1999, Genetic epidemiology.

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

J. Lecerf, B. Coulombe, J. Ferrières, 2022, Metabolites.

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

A. Philippi, R. Favis, J. Hager, 2009 .

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

A. Philippi, R. Favis, Nadine Cohen, 2009, BMC Genetics.

Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia

J. Soulier, S. Demeret, A. Philippi, 2023, Journal of neurology, neurosurgery, and psychiatry.