Cohen-Solal L - Search Results

1

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C. Heidet L, et al. Among authors: cohen solal l. J Am Soc Nephrol. 2001 Jan;12(1):97-106. doi: 10.1681/ASN.V12197. J Am Soc Nephrol. 2001. PMID: 11134255

2

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: cohen solal 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.

3

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. Among authors: cohen solal l. Cytogenet Cell Genet. 1997;78(3-4):240-6. doi: 10.1159/000134666. Cytogenet Cell Genet. 1997. PMID: 9465897

4

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen EM, Legrand E, Cochat P, Antignac C. Kalatzis V, et al. Among authors: cohen solal l. Hum Mutat. 2002 Dec;20(6):439-46. doi: 10.1002/humu.10141. Hum Mutat. 2002. PMID: 12442267

5

Benign familial hematuria associated with a novel COL4A4 mutation.

Ozen S, Ertoy D, Heidet L, Cohen-Solal L, Ozen H, Besbas N, Bakkaoglu A, Antignac C. Ozen S, et al. Among authors: cohen solal l. Pediatr Nephrol. 2001 Nov;16(11):874-7. doi: 10.1007/s004670100673. Pediatr Nephrol. 2001. PMID: 11685592

6

Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease.

Guillem P, Delcambre F, Cohen-Solal L, Triboulet JP, Antignac C, Heidet L, Quandalle P. Guillem P, et al. Among authors: cohen solal l. Gastroenterology. 2001 Jan;120(1):216-20. doi: 10.1053/gast.2001.20883. Gastroenterology. 2001. PMID: 11208731

7

Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Bonaventure J, Lasselin C, Mellier J, Cohen-Solal L, Maroteaux P. Bonaventure J, et al. J Med Genet. 1992 Jul;29(7):465-70. J Med Genet. 1992. PMID: 1640425 Free PMC article.

8

Altered collagen of human pathological fibroblasts impairs the synthesis of fibronectin.

Lebbé C, Font J, Bonaventure J, Pichon J, Wantyghem J, Rossi M, Haentjens G, Cohen-Solal L, Aubery M. Lebbé C, et al. Among authors: cohen solal l. Matrix Biol. 1997 Mar;15(7):503-7. doi: 10.1016/s0945-053x(97)90023-8. Matrix Biol. 1997. PMID: 9106161

9

Collagen disorders and skeletal dysplasias.

Bonaventure J, Cohen-Solal L, Maroteaux P. Bonaventure J, et al. Curr Opin Rheumatol. 1990 Feb;2(1):38-43. doi: 10.1097/00002281-199002010-00007. Curr Opin Rheumatol. 1990. PMID: 2223453 Review. No abstract available.

10

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ, Ala-Kokko L. Bonaventure J, et al. Among authors: cohen solal l. Biochem J. 1995 May 1;307 ( Pt 3)(Pt 3):823-30. doi: 10.1042/bj3070823. Biochem J. 1995. PMID: 7741714 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

50 results

Search Page