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Volumn 17, Issue 8, 2009, Pages 1019-1023

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN CTNS; UNCLASSIFIED DRUG;

EID: 67749103525     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.13     Document Type: Article
Times cited : (10)

References (11)
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    • (1982) Science , vol.217 , pp. 1263-1265
    • Gahl, W.A.1    Bashan, N.2    Tietze, F.3    Bernardini, I.4    Schulman, J.D.5
  • 3
    • 0029319869 scopus 로고
    • Linkage of the gene for cystinosis to markers on the short arm of chromosome 17
    • The Cystinosis Collaborative Research Group
    • The Cystinosis Collaborative Research Group: Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet 1995; 10: 246-248.
    • (1995) Nat Genet , vol.10 , pp. 246-248
  • 4
    • 0031945551 scopus 로고    scopus 로고
    • A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
    • Town M, Jean G, Cherqui S et al: A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 1998; 18: 319-324.
    • (1998) Nat Genet , vol.18 , pp. 319-324
    • Town, M.1    Jean, G.2    Cherqui, S.3
  • 5
    • 0035503565 scopus 로고    scopus 로고
    • Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter
    • Kalatzis V, Cherqui S, Antignac C, Gasnier B: Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J 2001; 20: 5940-5949.
    • (2001) EMBO J , vol.20 , pp. 5940-5949
    • Kalatzis, V.1    Cherqui, S.2    Antignac, C.3    Gasnier, B.4
  • 6
    • 0033364964 scopus 로고    scopus 로고
    • Molecular characterization of CTNS deletions in nephropathic cystinosis: Development of a PCR-based detection assay
    • Forestier L, Jean G, Attard M et al: Molecular characterization of CTNS deletions in nephropathic cystinosis: Development of a PCR-based detection assay. Am J Hum Genet 1999; 65: 353-359.
    • (1999) Am J Hum Genet , vol.65 , pp. 353-359
    • Forestier, L.1    Jean, G.2    Attard, M.3
  • 7
    • 27744495445 scopus 로고    scopus 로고
    • Global analysis of uniparental disomy using high density genotyping arrays
    • Bruce S, Leinonen R, Lindgren CM et al: Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet 2005; 42: 847-851.
    • (2005) J Med Genet , vol.42 , pp. 847-851
    • Bruce, S.1    Leinonen, R.2    Lindgren, C.M.3
  • 8
    • 0032977587 scopus 로고    scopus 로고
    • Mosaic trisomy 17 in amniocytes: Phenotypic outcome, tissue distribution, and uniparental disomy studies
    • Genuardi M, Tozzi C, Pomponi MG et al: Mosaic trisomy 17 in amniocytes: Phenotypic outcome, tissue distribution, and uniparental disomy studies. Eur J Hum Genet 1999; 7: 421-426.
    • (1999) Eur J Hum Genet , vol.7 , pp. 421-426
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  • 9
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    • Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation
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    • Rio, M.1    Ozilou, C.2    Cormier-Daire, V.3
  • 10
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    • Fetus with two identical reciprocal transloDations: Description of a rare complication of consanguinity
    • Martinet D, Vial Y, Thonney F, Beckmann JS, Meagher-Villemure K, Unger S: Fetus with two identical reciprocal transloDations: description of a rare complication of consanguinity. Am J Med Genet A 2006; 140 769-774.
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  • 11
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    • Uniparental Pisomy (UPD) other than 15: Phenotypes and bibliography updated
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    • Kotzot, D.1    Utermann, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.