Affiliation: CHU de Clermont-Ferrand
- A role for mesenchyme dynamics in mouse lung branching morphogenesisPierre Blanc
Retinoids, Development and Developmental Diseases EA 7281, Medicine School, Auvergne University, Clermont Ferrand, France
PLoS ONE 7:e41643. 2012..Rather it needs to be elaborated upon with the reconsideration of mesenchyme-epithelium coupled growth and lung tissues mechanics...
- Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature reviewPierre Blanc
CHU Clermont Ferrand, Service de Biochimie Biologie Moléculaire, Clermont Ferrand, France
Am J Med Genet A 146:1307-11. 2008..Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 --> 20qter and highlights the relevance of CGH for the detection of such rearrangements...
- Unusual presentation of severe intrahepatic cholestasis of pregnancy leading to fetal deathNathalie Favre
CHU Clermont Ferrand, Maternal Fetal Medicine Unit, Féedération de Gynécologie Obstétrique, the Department of Hepatology, Hotel Dieu, and the UMR CNRS 6247 GReD, Clermont Universite, Clermont Ferrand, France
Obstet Gynecol 114:491-3. 2009..We report an unusual presentation of intrahepatic cholestasis of pregnancy complicated by fetal death and associated with homozygous bile salt export pump polymorphism...
- Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke Bauters
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
Genome Res 18:847-58. 2008..Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements...