Literature DB >> 5100051

Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa.

R M Saldino, F Mainzer.   

Abstract

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Mesh：

Year:  1971        PMID： 5100051     DOI： 10.1148/98.1.39

Source DB:  PubMed          Journal:  Radiology        ISSN： 0033-8419            Impact factor:   11.105


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  8 in total

1.  Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers.

Authors:  Eren Soyaltın; Belde Kasap-Demir; Caner Alparslan; Seçil Arslansoyu-Çamlar; Elif Perihan Öncel; Özgür Kırbıyık; Demet Alaygut; Önder Yavaşcan; Gamze Türe; Fatma Mutlubaş
Journal:  Pediatr Nephrol       Date:  2017-07-24       Impact factor: 3.714

2.  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

3.  Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report.

Authors:  B Lauweryns; A Leys; E Van Haesendonck; L Missotten
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1993-04       Impact factor: 3.117

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.  Tricho-rhino-phalangeal syndrome type I in a Belgian family.

Authors:  L A Verbruggen; C Van Laere; J Lamoureux; R Van Tiggelen
Journal:  Clin Rheumatol       Date:  1987-06       Impact factor: 2.980

6.  Hereditary renal-retinal dysplasia.

Authors:  V Godel; A Iaina; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1980-10-15       Impact factor: 2.379

7.  Ocular changes in some progressive hereditary nephropathies.

Authors:  J L Dufier; D Orssaud; P Dhermy; M C Gubler; M F Gagnadoux; C Kleinknecht; M Broyer
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

8.  Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.

Authors:  Benjamin M Helm; Jason R Willer; Azita Sadeghpour; Christelle Golzio; Eric Crouch; Samantha Schrier Vergano; Nicholas Katsanis; Erica E Davis
Journal:  Hum Genomics       Date:  2017-07-19       Impact factor: 4.639
  8 in total

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