Literature DB >> 712765

Bilateral renal agenesis in 2 male sibs born to consanguineous parents.

A Schinzel, C Homberger, T Sigrist.   

Abstract

Two boys with bilateral agenesis of kidneys and ureters were the product of a consanguineous marriage. This family and previous reports of familial bilateral renal agenesis support the supposition that a minor proportion of cases of BRA is caused by the homozygous state of an autosomal recessive gene.

Entities:  

Mesh：

Year:  1978        PMID： 712765      PMCID： PMC1013707          DOI： 10.1136/jmg.15.4.314

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Nuclear sex and genital malformation in 48 cases of renal agenesis, with especial reference to nonspecific female pseudoheramphroditism.

Authors:  P J CARPENTIER; E L POTTER
Journal:  Am J Obstet Gynecol       Date:  1959-08       Impact factor: 8.661

2.  Potter syndrome. Nonrenal features induced by oligoamnios.

Authors:  A G Fantel; T H Shepard
Journal:  Am J Dis Child       Date:  1975-11

3.  Bilateral absence of the kidneys and ureters. Three cases reported in one family.

Authors:  H M Pashayan; T Dowd; A V Nigro
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

4.  Unilateral and bilateral renal agenesis in monoamniotic twins.

Authors:  S M Mauer; R S Dobrin; R L Vernier
Journal:  J Pediatr       Date:  1974-02       Impact factor: 4.406

5.  A 4p-syndrome. A case report.

Authors:  A V Mikelsaar; G J Lazjuk; J W Lurie; S Tüür; M E Käosaar; R Mikelsaar; V E Loolaid
Journal:  Humangenetik       Date:  1973-09-20

6.  [Potter syndrome (kidney agenesis) with chromosome abnormalities in the patient and mosaicism in the father].

Authors:  A Ferrandez; W Schmid
Journal:  Helv Paediatr Acta       Date:  1971-06

7.  Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome.

Authors:  M Preus; P Kaplan; T H Kirkham
Journal:  Am J Dis Child       Date:  1977-01
  7 in total
  8 in total

1.  Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.

Authors:  Andrew L Schwaderer; Carlton M Bates; Kirk M McHugh; Kim L McBride
Journal:  Pediatr Nephrol       Date:  2006-09-15       Impact factor: 3.714

2.  A family study of renal agenesis.

Authors:  C O Carter; K Evans; G Pescia
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

3.  Concordant monozygotic twins with bilateral renal agenesis.

Authors:  J R Yates; G Mortimer; J M Connor; J E Duke
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

4.  Genetic bases of renal agenesis in the ACI rat: mapping of Renag1 to chromosome 14.

Authors:  James D Shull; Cynthia M Lachel; Tracy E Strecker; Thomas J Spady; Martin Tochacek; Karen L Pennington; Clare R Murrin; Jane L Meza; Beverly S Schaffer; Lisa A Flood; Karen A Gould
Journal:  Mamm Genome       Date:  2006-07-14       Impact factor: 2.957

5.  Potter sequence and consanguinity--a case report.

Authors:  B R Fischler; U B Berg
Journal:  Pediatr Nephrol       Date:  1994-02       Impact factor: 3.714

6.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 7.  Genetics of cystic kidney diseases. Criteria for classification and genetic counselling.

Authors:  K Zerres
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

8.  A pedigree study of perinatally lethal renal disease.

Authors:  A Bankier; M de Campo; R Newell; J G Rogers; D M Danks
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.