Literature DB >> 14605845

[Pathology and genetic hereditary kidney cysts].

B Hermanns1, J Alfer, K Fischedick, A Stojanovic-Dedic, S Rudnik-Schöneborn, R Büttner, K Zerres.   

Abstract

The classification of cystic kidney diseases according to the pathologic-anatomic potter classification may be difficult. New molecular genetic findings are important to understand the underlying pathogenesis, but less useful to classify the hereditary diseases. An exact classification of polycystic kidney disease in fetus and children is very important for the human genetic consultation. Therefore, the investigation of pathological anatomy of kidney and liver, as well as the evaluation of additional malformations and family history is necessary. For clinical use the mode of inheritance (autosomal dominant and autosomal recessive) is used to differentiate hereditary polycystic kidney diseases.

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Year:  2003        PMID: 14605845     DOI: 10.1007/s00292-003-0646-5

Source DB:  PubMed          Journal:  Pathologe        ISSN: 0172-8113            Impact factor:   1.011


  26 in total

1.  Cloning, legislation and human welfare.

Authors: 
Journal:  Nat Genet       Date:  2002-01       Impact factor: 38.330

2.  Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

Authors:  A Fuchshuber; S Kroiss; S Karle; S Berthold; K Huck; C Burton; N Rahman; M Koptides; C Deltas; E Otto; F Rüschendorf; T Feest; F Hildebrandt
Journal:  Genomics       Date:  2001-03-15       Impact factor: 5.736

3.  Polycystic disease of kidney and liver presenting in childhood.

Authors:  H Blyth; B G Ockenden
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

Review 4.  Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.

Authors:  C Hallermann; G Mücher; N Kohlschmidt; B Wellek; R Schumacher; F Bahlmann; P Shahidi-Asl; U Theile; S Rudnik-Schöneborn; H Müntefering; K Zerres
Journal:  Am J Med Genet       Date:  2000-01-17

5.  PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Authors:  Luiz F Onuchic; Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik-Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner; Klaus Zerres; Lisa M Guay-Woodford; Stefan Somlo; Gregory G Germino
Journal:  Am J Hum Genet       Date:  2002-03-15       Impact factor: 11.025

6.  Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.

Authors:  D J Peters; L Spruit; J J Saris; D Ravine; L A Sandkuijl; R Fossdal; J Boersma; R van Eijk; S Nørby; C D Constantinou-Deltas
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

7.  Clinical features of unilateral multicystic renal dysplasia in children.

Authors:  S Rudnik-Schöneborn; U John; F Deget; J H Ehrich; J Misselwitz; K Zerres
Journal:  Eur J Pediatr       Date:  1998-08       Impact factor: 3.183

Review 8.  Glomerulocystic kidney disease--nosological considerations.

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

9.  Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.

Authors:  K Zerres; G Mücher; L Bachner; G Deschennes; T Eggermann; H Kääriäinen; M Knapp; T Lennert; J Misselwitz; K E von Mühlendahl
Journal:  Nat Genet       Date:  1994-07       Impact factor: 38.330

10.  Identification of a new locus for medullary cystic disease, on chromosome 16p12.

Authors:  F Scolari; D Puzzer; A Amoroso; G Caridi; G M Ghiggeri; R Maiorca; P Aridon; M De Fusco; A Ballabio; G Casari
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

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