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Laurence Heidet

Researcher at Necker-Enfants Malades Hospital

Publications -  105
Citations -  5271

Laurence Heidet is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Alport syndrome & Kidney disease. The author has an hindex of 38, co-authored 92 publications receiving 4379 citations. Previous affiliations of Laurence Heidet include Hospital Sant Joan de Déu Barcelona & Sorbonne.

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Early glomerular filtration defect and severe renal disease in podocin-deficient mice.

TL;DR: The crucial role of podocin in the establishment of the glomerular filtration barrier is demonstrated and Nphs2 −/− mice provide a suitable model for mapping and identifying modifier genes involved in glomerULAR diseases caused by podocyte injuries.
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Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

TL;DR: The severity of the renal disease associated with HNF1B mutations was extremely variable (from prenatal renal failure to normal renal function in adulthood) and was not correlated with the genotype.
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Expression of the Nonmuscle Myosin Heavy Chain IIA in the Human Kidney and Screening for MYH9 Mutations in Epstein and Fechtner Syndromes

TL;DR: The expression of MYH9 in the fetal and mature human kidney was studied, and the 40 coding exons of the gene were screened by single-strand conformation polymorphism in 12 families presenting with the association of MTCP and nephropathy.
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COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

TL;DR: The mutation spectrum of COL4A3 andCOL4A4 genes is extended, and a possible relationship between production of abnormal COL IV chains and dominant expression of a continuous spectrum of phenotypes is suggested, from ATS to BFH.