Martine Sinico
Hôpital Intercommunal de Créteil(FR)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genetic and Kidney Cyst Diseases, Hedgehog Signaling Pathway Studies, Fetal and Pediatric Neurological Disorders, Cleft Lip and Palate Research
Most-Cited Works
- → Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome(2007)281 cited
- → Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases(2013)132 cited
- → New insights into genotype–phenotype correlation for GLI3 mutations(2014)121 cited
- → Low Renal Mineralocorticoid Receptor Expression at Birth Contributes to Partial Aldosterone Resistance in Neonates(2009)91 cited
- → A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E(2007)57 cited
- → Hepatoblastoma and hepatocarcinoma in children: Analysis of a series of 29 cases(1986)52 cited
- → Perinatal Risk Factors for Bronchopulmonary Dysplasia in Extremely Low Gestational Age Infants: A Pregnancy Disorder–Based Approach(2011)48 cited
- → Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes(2005)29 cited
- → Differential distribution of group I metabotropic glutamate receptors in developing human cortex(2010)27 cited
- → Bilateral periventricular heterotopias in an X‐linked dominant transmission in a family with two affected males(2006)27 cited