Literature DB >> 29236135

[Retinal dystrophy with kidney disease].

B Hohberger1, F Reil2, R Meiller2.   

Abstract

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Year:  2018        PMID： 29236135     DOI： 10.1007/s00347-017-0636-2

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN： 0941-293X            Impact factor:   1.059


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  8 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.  Hereditary renal dysplasia and blindness.

Authors:  A C LOKEN; O HANSSEN; S HALVORSEN; N J JOLSTER
Journal:  Acta Paediatr       Date:  1961-03       Impact factor: 2.299

3.  Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Authors:  Edgar A Otto; Bart Loeys; Hemant Khanna; Jan Hellemans; Ralf Sudbrak; Shuling Fan; Ulla Muerb; John F O'Toole; Juliana Helou; Massimo Attanasio; Boris Utsch; John A Sayer; Concepcion Lillo; David Jimeno; Paul Coucke; Anne De Paepe; Richard Reinhardt; Sven Klages; Motoyuki Tsuda; Isao Kawakami; Takehiro Kusakabe; Heymut Omran; Anita Imm; Melissa Tippens; Pamela A Raymond; Jo Hill; Phil Beales; Shirley He; Andreas Kispert; Benjamin Margolis; David S Williams; Anand Swaroop; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2005-02-20       Impact factor: 38.330

Review 4.  Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.

Authors:  C C Ronquillo; P S Bernstein; W Baehr
Journal:  Vision Res       Date:  2012-07-20       Impact factor: 1.886

5.  Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome.

Authors:  Panagiotis I Sergouniotis; Kristen D Hadfield; Graeme C Black
Journal:  JAMA Ophthalmol       Date:  2016-08-11       Impact factor: 7.389

6.  [Familial nephronophthisis. The Senior-Loken syndrome].

Authors:  U Mayer; D Michalk
Journal:  Klin Monbl Augenheilkd       Date:  1982-11       Impact factor: 0.700

Review 7.  Molecular genetics of nephronophthisis and medullary cystic kidney disease.

Authors:  Friedhelm Hildebrandt; Edgar Otto
Journal:  J Am Soc Nephrol       Date:  2000-09       Impact factor: 10.121

8.  Senior Loken Syndrome.

Authors:  Amarpreet Kaur; Shashi Kant Dhir; Geetika Goyal; Naveen Mittal; R K Goyal
Journal:  J Clin Diagn Res       Date:  2016-11-01
  8 in total

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