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Claudine Junien | doi.page

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Claudine Junien

Publications by Year

Research Areas

Birth, Development, and Health, Epigenetics and DNA Methylation, Renal and related cancers, Genetic Syndromes and Imprinting, Nutrition, Genetics, and Disease

Most-Cited Works

→ Mutations in PCSK9 cause autosomal dominant hypercholesterolemia(2003)2,977 cited
→ Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome(1991)952 cited
→ Child Health, Developmental Plasticity, and Epigenetic Programming(2010)618 cited
→ Heterozygous TGFBR2 mutations in Marfan syndrome(2004)613 cited
→ Uniparental paternal disomy in a genetic cancer-predisposing syndrome(1991)422 cited
→ Placental contribution to the origins of sexual dimorphism in health and diseases: sex chromosomes and epigenetics(2013)333 cited
→ Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

(2003)

330 cited

→ Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.(1997)304 cited

→ Clinical Features of 52 Neonates with Hyperinsulinism(1999)293 cited

→ Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.(1998)290 cited