Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Laurence Heidet, Vincent Morinière, C. Henry, +21

Journal of the American Society of Nephrology

Sequencing the <i>erb</i> A Gene of Avian Erythroblastosis Virus Reveals a New Type of Oncogene

Brigitte Debuire, C. Henry, M. Bernissa, +5

Science

<i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis

M Girard, Albane A. Bizet, Alain Lachaux, +18

Human Mutation

ImmunologyPathologyDisease Gene IdentificationCholangiopathiesCholangiocyte Biology +15

Targeted exon skipping of a <i>CEP290</i> mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava, +9

Proceedings of the National Academy of Sciences

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari, +7

Human Molecular Genetics

Joubert SyndromeLysosomal Storage DiseaseRenal PathologyPathologyDisease Gene Identification +20

Alternative splicing within the chicken c-ets-1 locus: implications for transduction within the E26 retrovirus of the c-ets proto-oncogene

Dominique Leprince, Martine Duterque‐Coquillaud, R P Li, +4

Journal of Virology

C-ets-1 Exon AlphaViral ReplicationGeneticsE26 RetrovirusMolecular Biology +20

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Friederike Petzold, Katy Billot, Xiaoyi Chen, +323

Kidney International

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Maxence S. Macia, Jan Halbritter, Marion Delous, +33

The American Journal of Human Genetics

BiologyGenetic DisorderGeneticsPathogenesisMolecular Genetics +3

Transformation of quail embryo fibroblasts by a retrovirus carrying a normal human c-myc gene.

Patrick Martin, C. Henry, F. Ferré, +6

The EMBO Journal

Viral ReplicationDevelopmental BiologyPathogenesisQuail Embryo FibroblastsVirology +6

Cloning and expression of chicken p54c-ets cDNAs: the first p54c-ets coding exon is located into the 40.0 kbp genomic domain unrelated to v-ets.

Martine Duterque‐Coquillaud, Dominique Leprince, Anne Flourens, +4

PubMed

Viral ReplicationGeneticsImmunologyMolecular BiologyPathology +18