Literature DB >> 2873352

Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe.

S T Reeders, K Zerres, A Gal, T Hogenkamp, P Propping, W Schmidt, R Waldherr, M M Dolata, K E Davies, D J Weatherall.   

Abstract

A highly polymorphic DNA probe genetically linked to the locus of autosomal dominant polycystic kidney disease was used in linkage studies for prenatal diagnosis in a nine-week fetus at risk for the disease. The fetus was judged to have inherited the polycystic kidney disease mutation, and this was confirmed by microscopic examination of the fetal kidneys at necropsy.

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Year:  1986        PMID: 2873352     DOI: 10.1016/s0140-6736(86)92557-2

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  21 in total

1.  Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis.

Authors:  K A Hodgkinson; L Kerzin-Storrar; E A Watters; R Harris
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).

Authors:  E Coto; S Aguado; J Alvarez; M J Menéndez Díaz; C López-Larrea
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

3.  Phenotype recognition. Clinicians' contributions to molecular genetics.

Authors:  K D Gardner
Journal:  West J Med       Date:  1992-05

Review 4.  The application of molecular biology to the prenatal diagnosis of renal disease.

Authors:  F A Flinter; M Bobrow
Journal:  Pediatr Nephrol       Date:  1988-07       Impact factor: 3.714

5.  Adult polycystic kidney disease.

Authors:  R Harris
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

6.  A study of genetic linkage heterogeneity in adult polycystic kidney disease.

Authors:  S T Reeders; M H Breuning; M A Ryynanen; A F Wright; K E Davies; A W King; M L Watson; D J Weatherall
Journal:  Hum Genet       Date:  1987-08       Impact factor: 4.132

7.  Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.

Authors:  C J Ward; H Turley; A C Ong; M Comley; S Biddolph; R Chetty; P J Ratcliffe; K Gattner; P C Harris
Journal:  Proc Natl Acad Sci U S A       Date:  1996-02-20       Impact factor: 11.205

8.  Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Authors:  Katharina Hopp; Christopher J Ward; Cynthia J Hommerding; Samih H Nasr; Han-Fang Tuan; Vladimir G Gainullin; Sandro Rossetti; Vicente E Torres; Peter C Harris
Journal:  J Clin Invest       Date:  2012-10-15       Impact factor: 14.808

Review 9.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

Review 10.  Glomerulocystic kidney disease--nosological considerations.

Authors:  J Bernstein
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714

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