Martine Sinico

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jelena Martinović et al. · The American Journal of Human Genetics · 2007 · 280 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +7

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Homa Adle‐Biassette, Pascale Saugier-Véber, Catherine Fallet‐Bianco et al. · Acta Neuropathologica · 2013 · 124 citations · Full text

Unknown Molecular Bases, Neurobiology Of Disease, Neurogenomics +14

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 121 citations · Full text

Genetics, Genotype–phenotype Correlation, Molecular Genetics +3

Low Renal Mineralocorticoid Receptor Expression at Birth Contributes to Partial Aldosterone Resistance in Neonates

Laëtitia Martinerie, Say Viengchareun, Anne‐Lise Delezoide et al. · Endocrinology · 2009 · 90 citations · Full text

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

Laurence Jonard, Delphine Feldmann, Christophe Parsy et al. · European Journal of Medical Genetics · 2007 · 57 citations

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +8