Literature DB >> 15004717

[Onset of bilateral blindness in the first year of life. Alström syndrome].

B Sadowski1, F A M Baumeister, T Schmitz, G Rudolph.   

Abstract

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Year:  2004        PMID: 15004717     DOI: 10.1007/s00347-003-0813-3

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


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  4 in total

1.  Alström syndrome: further evidence for linkage to human chromosome 2p13.

Authors:  G B Collin; J D Marshall; C F Boerkoel; A V Levin; R Weksberg; J Greenberg; J L Michaud; J K Naggert; P M Nishina
Journal:  Hum Genet       Date:  1999-11       Impact factor: 4.132

2.  Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Authors:  Tom Hearn; Glenn L Renforth; Cosma Spalluto; Neil A Hanley; Karen Piper; Sarah Brickwood; Chris White; Vincent Connolly; James F N Taylor; Isabelle Russell-Eggitt; Dominque Bonneau; Mark Walker; David I Wilson
Journal:  Nat Genet       Date:  2002-04-08       Impact factor: 38.330

3.  Three new cases of Alström syndrome.

Authors:  Corinne Benso; Eve Hadjadj; John Conrath; Danièle Denis
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2002-07-20       Impact factor: 3.117

4.  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

  4 in total
  1 in total

1.  [Classification of biomedical research reports as a reference for evidence-based medicine in ophthalmology. A survey considering as example the journal Der Ophthalmologe].

Authors:  H P N Scholl; M Fleckenstein; T U Krohne; F G Holz
Journal:  Ophthalmologe       Date:  2005-12       Impact factor: 1.059

  1 in total

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