Heidet L - Search Results

1

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Morinière V, et al. Among authors: heidet l. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22. J Am Soc Nephrol. 2014. PMID: 24854265 Free PMC article.

2

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.

Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD, Leppig KA, Proesmans W, Guyot C, Guillot M, et al. Heidet L, et al. Hum Mol Genet. 1995 Jan;4(1):99-108. doi: 10.1093/hmg/4.1.99. Hum Mol Genet. 1995. PMID: 7711741

3

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.

Niaudet P, Heidet L, Munnich A, Schmitz J, Bouissou F, Gubler MC, Rötig A. Niaudet P, et al. Among authors: heidet l. Pediatr Nephrol. 1994 Apr;8(2):164-8. doi: 10.1007/BF00865468. Pediatr Nephrol. 1994. PMID: 8018492

4

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JM, et al. Dahan K, et al. Among authors: heidet l. Kidney Int. 1995 Dec;48(6):1900-6. doi: 10.1038/ki.1995.489. Kidney Int. 1995. PMID: 8587250 Free article.

5

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

Antignac C, Heidet L. Antignac C, et al. Among authors: heidet l. Contrib Nephrol. 1996;117:172-82. doi: 10.1159/000424813. Contrib Nephrol. 1996. PMID: 8801045 Review. No abstract available.

6

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C. Konrad M, et al. Among authors: heidet l. Hum Mol Genet. 1996 Mar;5(3):367-71. doi: 10.1093/hmg/5.3.367. Hum Mol Genet. 1996. PMID: 8852662

7

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization.

Heidet L, Cai Y, Sado Y, Ninomiya Y, Thorner P, Guicharnaud L, Boye E, Chauvet V, Solal LC, Beziau A, Torres RG, Antignac C, Gubler MC. Heidet L, et al. Lab Invest. 1997 Feb;76(2):233-43. Lab Invest. 1997. PMID: 9042160

8

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.

Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper MJ, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler MC, Antignac C. Heidet L, et al. Cytogenet Cell Genet. 1997;78(3-4):240-6. doi: 10.1159/000134666. Cytogenet Cell Genet. 1997. PMID: 9465897

9

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus.

Heidet L, Boye E, Cai Y, Sado Y, Zhang X, Fléjou JF, Fékété F, Ninomiya Y, Gubler MC, Antignac C. Heidet L, et al. Am J Pathol. 1998 Mar;152(3):673-8. Am J Pathol. 1998. PMID: 9502408 Free PMC article.

10

Diffuse leiomyomatosis of the esophagus: disorder of cell-matrix interaction?

Thorner P, Heidet L, Moreno Merlo F, Edwards V, Antignac C, Gubler MC. Thorner P, et al. Among authors: heidet l. Pediatr Dev Pathol. 1998 Nov-Dec;1(6):543-9. doi: 10.1007/s100249900075. Pediatr Dev Pathol. 1998. PMID: 9724343

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