Martine Doco‐Fenzy
Centre National de la Recherche Scientifique(FR)Inserm(FR)Centre Hospitalier Universitaire de Nantes(FR)Centre Hospitalier Universitaire de Reims(FR)Institut du Thorax(FR)Génétique Médicale & Génomique Fonctionelle(FR)Université de Reims Champagne-Ardenne(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genomics and Rare Diseases, Craniofacial Disorders and Treatments, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.(1996)67 cited
- → Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies(2006)38 cited
- → 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients(2022)33 cited
- → Role of angiogenesis-related genes in cleft lip/palate: Review of the literature(2014)27 cited
- → Prenatal findings in 1p36 deletion syndrome: New cases and a literature review(2019)20 cited
- → Gillespie syndrome phenotype withat(x;11)(p22.32;p12) de novo translocation(1998)18 cited