Martine Doco‐Fenzy

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

Ken McElreavey, Éric Vilain, Sandrine Barbaux et al. · Proceedings of the National Academy of Sciences · 1996 · 67 citations · Full text

Spermatogenesis, Testis-determining Gene, Fertility +25

Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies

Martine Doco‐Fenzy, Pierre Mauran, Jean Marie Lebrun et al. · American Journal of Medical Genetics Part A · 2006 · 38 citations

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier et al. · American Journal of Medical Genetics Part A · 2022 · 32 citations · Full text

Genetics, Genetic Epidemiology, New Cohort +19

Gillespie syndrome phenotype withat(x;11)(p22.32;p12) de novo translocation

Hélène Dollfus, Olivier Joanny-Flinois, Martine Doco‐Fenzy et al. · American Journal of Ophthalmology · 1998 · 18 citations

Mendelian Disorder, Gillespie Syndrome Phenotype, Genetic Disorder +4

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau et al. · Prenatal Diagnosis · 2019 · 17 citations