Literature DB >> 1008585

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

M Popović-Rolović, N Calić-Perisíc, G Bunjevacki, D Negovanović.   

Abstract

A boy aged 9 3/4 years with interstitial nephritis, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities is described. The association may be due to a new genetic disorder, since 2 similar cases have been reported.

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Mesh：

Year:  1976        PMID： 1008585      PMCID： PMC1546134          DOI： 10.1136/adc.51.10.801

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


  7 in total

1.  FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS.

Authors:  D A MEIER; J W HESS
Journal:  Am J Med       Date:  1965-07       Impact factor: 4.965

2.  Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

Authors:  B SENIOR; A I FRIEDMANN; J L BRAUDO
Journal:  Am J Ophthalmol       Date:  1961-11       Impact factor: 5.258

3.  Juvenile nephronophthisis.

Authors:  P R Betts; I Forrest-Hay
Journal:  Lancet       Date:  1973-09-01       Impact factor: 79.321

4.  Familial renal-retinal dystrophy.

Authors:  B Senior
Journal:  Am J Dis Child       Date:  1973-03

5.  Hereditary nephritis, retinitis pigmentosa and chromosomal abnormalities.

Authors:  H E Sarles; A E Rodin; P R Poduska; G H Smith; J C Fish; A R Remmers
Journal:  Am J Med       Date:  1968-08       Impact factor: 4.965

6.  [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)].

Authors:  J L Fontaine; J Boulesteix; H Saraux; G Lasfargues; P Grenet; N M Dung; P Dhermy; C Roy; R Laplane
Journal:  Arch Fr Pediatr       Date:  1970-05

7.  Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities.

Authors:  F Mainzer; R M Saldino; M B Ozonoff; H Minagi
Journal:  Am J Med       Date:  1970-10       Impact factor: 4.965
  7 in total
  8 in total

1.  Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

Authors:  F Oberklaid; D M Danks; V Mayne; P Campbell
Journal:  Arch Dis Child       Date:  1977-10       Impact factor: 3.791

2.  Night blindness, characteristic facies, and skeletal abnormalities in two brothers.

Authors:  A G Hunter; D R Thompson; M H Reed; A G Macrodimitris
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

3.  Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes.

Authors:  A Giedion
Journal:  Pediatr Radiol       Date:  1979-02-26

4.  The nephronophthisis complex. A clinicopathologic study in children.

Authors:  R Waldherr; T Lennert; H P Weber; H J Födisch; K Schärer
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1982

5.  Juvenile nephronophthisis.

Authors:  J F Walker; S O'Neill; J S Hanson; M Carmody; W F O'Dwyer
Journal:  Ir J Med Sci       Date:  1981-07       Impact factor: 1.568

Review 6.  Aplasia of the cerebellar vermis associated with chronic renal disease. A report of six cases and a review of the literature.

Authors:  B Keuth; U Alon; A Fuchshuber; D Michalk; U Querfeld
Journal:  Eur J Pediatr       Date:  1996-11       Impact factor: 3.183

7.  Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Authors:  M D Donaldson; A A Warner; R S Trompeter; G B Haycock; C Chantler
Journal:  Arch Dis Child       Date:  1985-05       Impact factor: 3.791

Review 8.  Emerging role of primary cilia as mechanosensors in osteocytes.

Authors:  An M Nguyen; Christopher R Jacobs
Journal:  Bone       Date:  2012-11-28       Impact factor: 4.398
  8 in total

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