Mathieu-Dramard, Michèle

Top Publications

Top Publications Authored or Co-Authored by "Mathieu-Dramard, Michèle"

• Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

  Human Molecular Genetics, Volume 6, No. 13, Year 1997, Citations 184
• A comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

  Journal of Clinical Endocrinology and Metabolism, Volume 95, No. 2, Year 2010, Citations 131
• Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

  Gastroenterology, Volume 149, No. 4, Article 59847, Year 2015, Citations 82
• Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 163, No. 2, Year 2013, Citations 76
• Autosomal recessive primary microcephaly due to ASPM mutations: An update

  Human Mutation, Volume 39, No. 3, Year 2018, Citations 54