Literature DB >> 17576719

Exudative retinopathy in a girl with Alström syndrome due to a novel mutation.

Devina Gogi, Jackie Bond, Vernon Long, Eammon Sheridan, C G Woods.   

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Year:  2007        PMID： 17576719      PMCID： PMC1955645          DOI： 10.1136/bjo.2005.088781

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


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  9 in total

1.  Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

Authors:  A I den Hollander; J R Heckenlively; L I van den Born; Y J de Kok; S D van der Velde-Visser; U Kellner; B Jurklies; M J van Schooneveld; A Blankenagel; K Rohrschneider; B Wissinger; J R Cruysberg; A F Deutman; H G Brunner; E Apfelstedt-Sylla; C B Hoyng; F P Cremers
Journal:  Am J Hum Genet       Date:  2001-05-24       Impact factor: 11.025

2.  Pars plana vitrectomy for exuduative retinal detachment in coats-type retinitis pigmentosa.

Authors:  Sun-Young Lee; Young H Yoon
Journal:  Retina       Date:  2004-06       Impact factor: 4.256

3.  The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.

Authors:  J Bond; K Flintoff; J Higgins; S Scott; C Bennet; J Parsons; J Mannon; H Jafri; Y Rashid; M Barrow; R Trembath; G Woodruff; E Rossa; S Lynch; J Sheilds; R Newbury-Ecob; A Falconer; P Holland; D Cockburn; G Karbani; S Malik; M Ahmed; E Roberts; G Taylor; C G Woods
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

4.  A case of retinitis pigmentosa associated with Coats' syndrome.

Authors:  M Yuguchi; A Majima
Journal:  Ophthalmic Paediatr Genet       Date:  1984-12

5.  Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

Authors:  Gayle B Collin; Jan D Marshall; Akihiro Ikeda; W Venus So; Isabelle Russell-Eggitt; Pietro Maffei; Sebastian Beck; Cornelius F Boerkoel; Nicola Sicolo; Mitchell Martin; Patsy M Nishina; Jürgen K Naggert
Journal:  Nat Genet       Date:  2002-04-08       Impact factor: 38.330

Review 6.  Cilia and flagella revealed: from flagellar assembly in Chlamydomonas to human obesity disorders.

Authors:  William J Snell; Junmin Pan; Qian Wang
Journal:  Cell       Date:  2004-06-11       Impact factor: 41.582

Review 7.  Coats'-type retinitis pigmentosa.

Authors:  J A Khan; C H Ide; M P Strickland
Journal:  Surv Ophthalmol       Date:  1988 Mar-Apr       Impact factor: 6.048

Review 8.  Alström syndrome. Report of 22 cases and literature review.

Authors:  I M Russell-Eggitt; P T Clayton; R Coffey; A Kriss; D S Taylor; J F Taylor
Journal:  Ophthalmology       Date:  1998-07       Impact factor: 12.079

9.  Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes.

Authors:  Tom Hearn; Cosma Spalluto; Victoria J Phillips; Glenn L Renforth; Nane Copin; Neil A Hanley; David I Wilson
Journal:  Diabetes       Date:  2005-05       Impact factor: 9.461
  9 in total
  3 in total

1.  Alström Syndrome: Mutation Spectrum of ALMS1.

Authors:  Jan D Marshall; Jean Muller; Gayle B Collin; Gabriella Milan; Stephen F Kingsmore; Darrell Dinwiddie; Emily G Farrow; Neil A Miller; Francesca Favaretto; Pietro Maffei; Hélène Dollfus; Roberto Vettor; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2015-05-18       Impact factor: 4.878

2.  Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome).

Authors:  Melinda Y Chang; Mark S Borchert; Ryan Schmidt; Aaron Nagiel
Journal:  Am J Ophthalmol Case Rep       Date:  2022-03-25

Review 3.  Alstrom syndrome (OMIM 203800): a case report and literature review.

Authors:  Tisha Joy; Henian Cao; Graeme Black; Rayaz Malik; Valentine Charlton-Menys; Robert A Hegele; Paul N Durrington
Journal:  Orphanet J Rare Dis       Date:  2007-12-21       Impact factor: 4.123
  3 in total

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