Literature DB >> 1595272

Phenotype recognition. Clinicians' contributions to molecular genetics.

K D Gardner1.   

Abstract

Medullary cystic disease, Alport's syndrome, and autosomal dominant polycystic kidney disease are inherited renal disorders whose genetic bases are better understood because of careful clinical observation. I explore the relationships among some clinical aspects of each of these conditions, the rapidly advancing field of molecular genetics, and the ethical issues that need to be addressed before gene identification becomes too widely applied as a diagnostic tool.

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Mesh：

Year:  1992        PMID： 1595272      PMCID： PMC1003310     

Source DB:  PubMed          Journal:  West J Med        ISSN： 0093-0415


  11 in total

1.  Clinical and pathological aspects of cystic disease of the renal medulla. An analysis of eighteen cases.

Authors:  M B STRAUSS
Journal:  Ann Intern Med       Date:  1962-09       Impact factor: 25.391

2.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Authors:  D F Barker; S L Hostikka; J Zhou; L T Chow; A R Oliphant; S C Gerken; M C Gregory; M H Skolnick; C L Atkin; K Tryggvason
Journal:  Science       Date:  1990-06-08       Impact factor: 47.728

3.  The genetics of the Alport syndrome.

Authors:  P V Tishler; B Rosner
Journal:  Birth Defects Orig Artic Ser       Date:  1974

4.  Composition of fluid in twelve cysts of a polycystic kidney.

Authors:  K D Gardner
Journal:  N Engl J Med       Date:  1969-10-30       Impact factor: 91.245

5.  Genetic heterogeneity of Alport syndrome.

Authors:  J Feingold; E Bois; A Chompret; M Broyer; M C Gubler; J P Grünfeld
Journal:  Kidney Int       Date:  1985-04       Impact factor: 10.612

6.  The diagnosis and prognosis of autosomal dominant polycystic kidney disease.

Authors:  P S Parfrey; J C Bear; J Morgan; B C Cramer; P J McManamon; M H Gault; D N Churchill; M Singh; R Hewitt; S Somlo
Journal:  N Engl J Med       Date:  1990-10-18       Impact factor: 91.245

7.  Juvenile nephronophthisis and renal medullary cystic disease.

Authors:  K D Gardner
Journal:  Perspect Nephrol Hypertens       Date:  1976

8.  Linkage heterogeneity of autosomal dominant polycystic kidney disease.

Authors:  W J Kimberling; P R Fain; J B Kenyon; D Goldgar; E Sujansky; P A Gabow
Journal:  N Engl J Med       Date:  1988-10-06       Impact factor: 91.245

9.  The pathology of the kidney in the Alport syndrome.

Authors:  G S Spear
Journal:  Birth Defects Orig Artic Ser       Date:  1974

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

Authors:  S T Reeders; K Zerres; A Gal; T Hogenkamp; P Propping; W Schmidt; R Waldherr; M M Dolata; K E Davies; D J Weatherall
Journal:  Lancet       Date:  1986-07-05       Impact factor: 79.321
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  1 in total

1.  Genetic heterogeneity and clinical disease.

Authors:  S T Reeders
Journal:  West J Med       Date:  1992-05
  1 in total

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