As;Vers l'identification du gène de la néphronophtise TiréS ÀPart . G. Antignac

Medecine/Sciences

Volumn 13, Issue 1, 1997, Pages 54-56

  Saunier, Sophie ^a,b   Silbermann, Flora ^a   Benessy, France ^a   Antignac, Corinne ^a  

^a INSERM   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 21444446441     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.4267/10608/301     Document Type: Article

References (12)

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2. Cohen AH, Hoyer JR. Nephronophthisis : a primary tubular basement membrane defect. Lab Invest 1986; 55: 564-72.
3. Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, DufierJL, Kleinknecht C, Broyer M, Weissenbach J, Habib R, Cohen D. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nature Genet 1993:3:342-5.
4. Hildebrandt F, Singh-Sawhney I, Schnieders B, Centofante L, Omran H, Pohlmann A, Schmaltz C, Wedekind H, Schubotz C, Antignac C, Weber JL, Brandis M, and members of the APN group. Mapping of a gene for familial juvenile nephronophthisis: confirmation of linkage to chromosome 2 and definition of flanking markers. Am J Hum Genet 1993; 53: 1256451.
5. Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C. Refined mapping of a gene causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. Genomia 1994; 22: 296-301.
6. Moro F, Ogg CS, Simmonds HA, Cammeron JS, Chantier C, McBride MB, DuleyJA, Davies PM. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nebhrol 1991; 35: 2635).
7. Konrad M, Saunier S, Silbermann F, Benessy F, Lepaslier D, Weissenbach J, Broyer M, Gubler MC, Antignac C. A 11 Mb VAC based contig spanning the familial juvenile nephronophthisis region (NPH1) on chromosome 2q. Genomia 1995; 30: 51420.
8. lidoiTW, Baldini A, Ward DC, Reeders ST, Wells RA. Origin of human chromosome 2: an ancestral telomere-telomere fusion. Proc Nail Acad Sä USA 1991 ; 88: 9051-5.
9. Babinet C. Une famille de gènes du développement: les gènes Pax. MedSci 1993; 9: 873l.
10. Lefebvre S, Burglen L, Reboullet S, Clermont Olivier, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal I, Cohen D, Weissenbach J, Munnich A, Melki J. Identification and characterization of a spinal muscular atrophydetermining gene. G>//1995; 80: 155-65\
11. Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C. Large homozygous deletions of the 2ql3 region are a major cause of juvenile nephronophthisis. Hum Mol Genet'1996; 5: 367-71.
12. Yen PH, Li XM, Tsai SP, Johnson C, Mohandas T, Shapiro LG. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 1990; 60:603-10.