Michèle Mathieu
Publications by Year
Research Areas
Legal Cases and Commentary, Legal case studies and regulations, Legal principles and applications, Genomic variations and chromosomal abnormalities, Genetic factors in colorectal cancer
Most-Cited Works
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2(2006)451 cited
- → Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients(2010)150 cited
- → A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes(2009)145 cited
- → 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients(2015)121 cited
- → Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes(2013)105 cited
- → Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature(2013)104 cited
- → Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility(2011)63 cited
- → A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12(1994)49 cited
- → Osteopathia striata cranial sclerosis: Non‐random X‐inactivation suggestive of X‐linked dominant inheritance(2002)45 cited