Frédérique Dijoud

<i>BRAF</i> Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

Sébastien Héritier, Jean‐François Emile, Mohamed‐Aziz Barkaoui et al. · Journal of Clinical Oncology · 2016 · 335 citations · Full text

Medicine, Oncology, Pathology +12

Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Marie Gonzalès, Thomas J. Neuhaus et al. · Nature Genetics · 2005 · 289 citations

Medicine, Genetics, Molecular Genetics +14

Disruption of a long distance regulatory region upstream of <i>SOX9</i> in isolated disorders of sex development

Sabina Benko, Christopher T. Gordon, Delphine Mallet et al. · Journal of Medical Genetics · 2011 · 189 citations

Life Sciences, Genetics, Molecular Genetics +17

Gonadal Dysgenesis Without Adrenal Insufficiency in a 46, XY Patient Heterozygous for the Nonsense C16X Mutation: A Case of SF1 Haploinsufficiency

Delphine Mallet, Patricia Bretones, Laurence Michel‐Calemard et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 140 citations · Full text

Medicine, Endocrinology, Genetics +17

Preliminary Results of a Prospective Study of Testicular Sperm Extraction in Young Versus Adult Patients With Nonmosaic 47,XXY Klinefelter Syndrome

Ingrid Plotton, Sandrine Giscard d’Estaing, B. Cuzin et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 137 citations · Full text

Medicine, Urology, Fertility +14