Heidet L - Search Results

1

Developmental Renal Glomerular Defects at the Origin of Glomerulocystic Disease.

Fiorentino A, Christophorou A, Massa F, Garbay S, Chiral M, Ramsing M, Rasmussen M, Gubler MC, Bessieres B, Heidet L, Fischer E, Pontoglio M. Fiorentino A, et al. Among authors: heidet l. Cell Rep. 2020 Oct 27;33(4):108304. doi: 10.1016/j.celrep.2020.108304. Cell Rep. 2020. PMID: 33113370 Free article.

2

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

3

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

4

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

5

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

6

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.

7

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C. Boye E, et al. Among authors: heidet l. Am J Hum Genet. 1998 Nov;63(5):1329-40. doi: 10.1086/302106. Am J Hum Genet. 1998. PMID: 9792860 Free PMC article.

8

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.

Heidet L, Cai Y, Guicharnaud L, Antignac C, Gubler MC. Heidet L, et al. Am J Pathol. 2000 Jun;156(6):1901-10. doi: 10.1016/S0002-9440(10)65063-8. Am J Pathol. 2000. PMID: 10854213 Free PMC article.

9

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Arrondel C, Vodovar N, Knebelmann B, Grünfeld JP, Gubler MC, Antignac C, Heidet L. Arrondel C, et al. Among authors: heidet l. J Am Soc Nephrol. 2002 Jan;13(1):65-74. doi: 10.1681/ASN.V13165. J Am Soc Nephrol. 2002. PMID: 11752022

10

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.

Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC. Heidet L, et al. Am J Pathol. 2003 Jul;163(1):145-55. doi: 10.1016/S0002-9440(10)63638-3. Am J Pathol. 2003. PMID: 12819019 Free PMC article.

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