Antignac C - Search Results

1

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C. Humbert C, et al. Among authors: antignac c. Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439109 Free PMC article.

2

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

Knebelmann B, Deschenes G, Gros F, Hors MC, Grünfeld JP, Zhou J, Tryggvason K, Gubler MC, Antignac C. Knebelmann B, et al. Among authors: antignac c. Am J Hum Genet. 1992 Jul;51(1):135-42. Am J Hum Genet. 1992. PMID: 1376965 Free PMC article.

3

[Antioncogenes: models for tumors in children].

Junien C, Henry I, Jeanpierre C, Lavedan C, Antignac C, Puech A, Beroud C. Junien C, et al. Among authors: antignac c. Bull Cancer. 1991 Jan;78(1):57-68. Bull Cancer. 1991. PMID: 2021687 French.

4

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

Knebelmann B, Forestier L, Drouot L, Quinones S, Chuet C, Benessy F, Saus J, Antignac C. Knebelmann B, et al. Among authors: antignac c. Hum Mol Genet. 1995 Apr;4(4):675-9. doi: 10.1093/hmg/4.4.675. Hum Mol Genet. 1995. PMID: 7633417

5

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.

Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C. Medhioub M, et al. Among authors: antignac c. Genomics. 1994 Jul 15;22(2):296-301. doi: 10.1006/geno.1994.1387. Genomics. 1994. PMID: 7806215

6

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755

7

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C. Fuchshuber A, et al. Among authors: antignac c. Hum Mol Genet. 1995 Nov;4(11):2155-8. doi: 10.1093/hmg/4.11.2155. Hum Mol Genet. 1995. PMID: 8589695

8

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

Jean G, Fuchshuber A, Town MM, Gribouval O, Schneider JA, Broyer M, van't Hoff W, Niaudet P, Antignac C. Jean G, et al. Among authors: antignac c. Am J Hum Genet. 1996 Mar;58(3):535-43. Am J Hum Genet. 1996. PMID: 8644713 Free PMC article.

9

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.

Fuchshuber A, Niaudet P, Gribouval O, Jean G, Gubler MC, Broyer M, Antignac C. Fuchshuber A, et al. Among authors: antignac c. Pediatr Nephrol. 1996 Apr;10(2):135-8. doi: 10.1007/BF00862052. Pediatr Nephrol. 1996. PMID: 8703694

10

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

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

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