Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Elisabeth Lajeunie, S. Heuertz, Vincent El Ghouzzi, +4

European Journal of Human Genetics

Developmental AnomalyMendelian DisorderSclerodermaGenetic DisorderCraniofacial Anomalies +9

The gene for incontinentia pigmenti is assigned to Xq28

A. Sefiani, Laurent Abel, S. Heuertz, +4

Genomics

Genetic DisorderMedicineGeneticsPathologyGene Characterization +5

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Ági K. Gedeon, George E. Tiller, M. Le Merrer, +13

The American Journal of Human Genetics

Genetic DisorderNatural SciencesGeneticsMolecular BiologyDna Replication +6

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Laurence Colleaux, Marlène Rio, S. Heuertz, +16

European Journal of Human Genetics

Developmental AnomalyPsychiatryIdiopathic Mental RetardationGeneticsPediatrics +3

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

S. Heuertz, Martine Le Merrer, Bernhard Zabel, +5

European Journal of Human Genetics

Mendelian DisorderMedicineGeneticsNatural SciencesMolecular Biology +8

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

Marlène Rio, Florence Molinari, S. Heuertz, +13

Journal of Medical Genetics

GeneticsEpigeneticsClinical GeneticsMendelian DisorderPsychiatric Genetics +15

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

A. Smahl, Christel Hydén‐Granskog, Borut Peterlin, +10

Human Molecular Genetics

Cattle gene mapping by somatic cell hybridization study of 17 enzyme markers

S. Heuertz, M. C. Hors‐Cayla

Cytogenetic and Genome Research

GeneticsMolecular GeneticsGenomicsBovine Enzyme MarkersAnimal Genetics +20

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers

A. Sefiani, Ridha Mrad, Louise R. Simard, +13

Human Genetics

UrologyGeneticsMolecular GeneticsDermatologyMedicine +2

Different bovine leukemia virus-induced tumors harbor the provirus in different chromosomes

D. Grégoire, Dominique Couez, Jacqueline Deschamps, +7

Journal of Virology

GeneticsPathologyMolecular GeneticsCellular SequencesVirus Gene +15