Literature DB >> 8695580

A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia.

T Eke, G Woodruff, I D Young.   

Abstract

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Year:  1996        PMID： 8695580      PMCID： PMC505510          DOI： 10.1136/bjo.80.5.490

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  7 in total

1.  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

2.  Cranioectodermal dysplasia in sibs.

Authors:  G D Lang; I D Young
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

3.  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 4.  Cranioectodermal dysplasia (Sensenbrenner's syndrome).

Authors:  I D Young
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

5.  A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia.

Authors:  L S Levin; J C Perrin; L Ose; J P Dorst; J D Miller; V A McKusick
Journal:  J Pediatr       Date:  1977-01       Impact factor: 4.406

6.  Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).

Authors:  D S Ellis; J R Heckenlively; C L Martin; R S Lachman; N A Sakati; D L Rimoin
Journal:  Am J Ophthalmol       Date:  1984-02       Impact factor: 5.258

7.  Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report).

Authors:  M Hayakawa; K Yanashima; K Kato; A Nakajima; H Yamauchi
Journal:  Ophthalmic Paediatr Genet       Date:  1989-12
  7 in total
  6 in total

1.  Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Authors:  Joanna Walczak-Sztulpa; Jonathan Eggenschwiler; Daniel Osborn; Desmond A Brown; Francesco Emma; Claus Klingenberg; Raoul C Hennekam; Giuliano Torre; Masoud Garshasbi; Andreas Tzschach; Malgorzata Szczepanska; Marian Krawczynski; Jacek Zachwieja; Danuta Zwolinska; Philip L Beales; Hans-Hilger Ropers; Anna Latos-Bielenska; Andreas W Kuss
Journal:  Am J Hum Genet       Date:  2010-05-20       Impact factor: 11.025

2.  Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.

Authors:  Katsuyuki Obikane; Taiji Nakashima; Yoshihiko Watarai; Ken Morita; Kazutoshi Cho; Hidefumi Tonoki; Michio Nagata; Satoshi Sasaki
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714

3.  A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

Authors:  Pooja Biswas; Jacque L Duncan; Muhammad Ali; Hiroko Matsui; Muhammad Asif Naeem; Pongali B Raghavendra; Kelly A Frazer; Heleen H Arts; Sheikh Riazuddin; Javed Akram; J Fielding Hejtmancik; S Amer Riazuddin; Radha Ayyagari
Journal:  Hum Mol Genet       Date:  2017-12-01       Impact factor: 6.150

4.  Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.

Authors:  Miroslava Brndiarova; Martin Mraz; Zuzana Kolkova; Frantisek Cisarik; Peter Banovcin
Journal:  Mol Syndromol       Date:  2021-06-16

Review 5.  Ciliary Genes in Renal Cystic Diseases.

Authors:  Anna Adamiok-Ostrowska; Agnieszka Piekiełko-Witkowska
Journal:  Cells       Date:  2020-04-08       Impact factor: 6.600

6.  A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

Authors:  Maria Kaukonen; Inka-Tuulevi Pettinen; Kaisa Wickström; Meharji Arumilli; Jonas Donner; Ida-Julia Juhola; Saila Holopainen; Joni A Turunen; Masahito Yoshihara; Juha Kere; Hannes Lohi
Journal:  Hum Genet       Date:  2021-02-19       Impact factor: 4.132
  6 in total

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