Literature DB >> 3729522

Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder?

L Palm, I Hägerstrand, U Kristoffersson, G Blennow, A Brun, C Jörgensen.   

Abstract

Two male siblings (a boy aged 2 years 10 months at death and a male fetus aborted in gestational week 22) showed similar brain and kidney malformations, comprising paraventricular heterotopias, central canal abnormalities (including hydrocephalus in the boy), and glomerular kidney disease with proteinuria. There were no known hereditary diseases in the families of the parents, and there was one healthy sibling of either sex. The malformations thus seem to be hereditary in an autosomal or possibly X linked recessive fashion.

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Year:  1986        PMID: 3729522      PMCID: PMC1777827          DOI: 10.1136/adc.61.6.545

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  9 in total

1.  Congenital microcephaly, hiatus hernia and nephrotic syndrome: an autosomal recessive syndrome.

Authors:  L R Shapiro; P A Duncan; P B Farnsworth; M Lefkowitz
Journal:  Birth Defects Orig Artic Ser       Date:  1976

2.  Errors in differentiation of the central nervous system.

Authors:  B Källén
Journal:  Birth Defects Orig Artic Ser       Date:  1979

3.  Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs.

Authors:  W H Galloway; A P Mowat
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

4.  The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings.

Authors:  A Brun; M Gilboa; G W Meeuwisse; H Nordgren
Journal:  Eur J Pediatr       Date:  1978-04-20       Impact factor: 3.183

5.  Infantile spasms syndrome in monozygotic twins.

Authors:  L Pavone; F Mollica; G Incorpora; G Pampiglione
Journal:  Arch Dis Child       Date:  1980-11       Impact factor: 3.791

6.  Pachygyria and congenital nephrosis disorder of migration and neuronal orientation.

Authors:  O Robain; T Deonna
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088

Review 7.  Neuronal migration and contact guidance in the primate telencephalon.

Authors:  P Rakic
Journal:  Postgrad Med J       Date:  1978       Impact factor: 2.401

8.  Renal pathology of fetuses with congenital nephrotic syndrome of the Finnish type. A qualitative and quantitative light microscopic study.

Authors:  H Autio-Harmainen; J Rapola
Journal:  Nephron       Date:  1981       Impact factor: 2.847

9.  A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease.

Authors:  E Della Giustina; A M Goffinet; P Landrieu; G Lyon
Journal:  Acta Neuropathol       Date:  1981       Impact factor: 17.088

  9 in total
  7 in total

1.  Why is congenital nephrotic syndrome associated with a rise in the concentration of alpha-fetoprotein in the amniotic fluid?

Authors:  J Rapola
Journal:  Pediatr Nephrol       Date:  1990-03       Impact factor: 3.714

2.  Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis.

Authors:  O Koskimies; H Sariola; C Holmberg; J Rapola
Journal:  Pediatr Nephrol       Date:  1991-07       Impact factor: 3.714

3.  Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Authors:  B Z Garty; B Eisenstein; J Sandbank; S Kaffe; R Dagan; N Gadoth
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

4.  Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.

Authors:  Andreas Dietrich; Verena Matejas; Martin Bitzan; Seema Hashmi; Cathy Kiraly-Borri; Shuan-Pei Lin; Eva Mildenberger; Bernd Hoppe; Lars Palm; Takashi Shiihara; Jens-Oliver Steiss; Jeng-Daw Tsai; Udo Vester; Stefanie Weber; Elke Wühl; Kristina Zepf; Martin Zenker
Journal:  Pediatr Nephrol       Date:  2008-07-02       Impact factor: 3.714

Review 5.  Congenital nephrotic syndrome.

Authors:  J Rapola
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

Review 6.  Expansion of phenotype and genotypic data in CRB2-related syndrome.

Authors:  Ryan E Lamont; Wen-Hann Tan; A Micheil Innes; Jillian S Parboosingh; Dina Schneidman-Duhovny; Aleksandar Rajkovic; John Pappas; Pablo Altschwager; Stephanie DeWard; Anne Fulton; Kathryn J Gray; Max Krall; Lakshmi Mehta; Lance H Rodan; Devereux N Saller; Deanna Steele; Deborah Stein; Svetlana A Yatsenko; François P Bernier; Anne M Slavotinek
Journal:  Eur J Hum Genet       Date:  2016-03-23       Impact factor: 4.246

Review 7.  Management of congenital nephrotic syndrome of the Finnish type.

Authors:  C Holmberg; M Antikainen; K Rönnholm; M Ala Houhala; H Jalanko
Journal:  Pediatr Nephrol       Date:  1995-02       Impact factor: 3.714

  7 in total

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