Chantal Esculpavit
Délégation Paris 5(FR)Université Paris Cité(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Renal and related cancers, Craniofacial Disorders and Treatments, Fetal and Pediatric Neurological Disorders
Most-Cited Works
- → Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome(2007)281 cited
- → Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development(2005)239 cited
- → Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome(2005)136 cited
- → Spectrum ofMKS1andMKS3mutations in Meckel syndrome: a genotype-phenotype correlation(2007)100 cited
- → CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation(2009)87 cited
- → PAX2 mutations in fetal renal hypodysplasia(2010)37 cited
- → Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different