Literature DB >> 13649370

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.

C H ALSTROM, B HALLGREN, L B NILSSON, H ASANDER.   

Abstract

Entities:  

Keywords:  ENDOCRINE DISEASES/differential diagnosis; LAURENCE-MOON-BIEDL SYNDROME/differential diagnosis

Mesh：

Year:  1959        PMID： 13649370

Source DB:  PubMed          Journal:  Acta Psychiatr Neurol Scand Suppl        ISSN： 0365-5067


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  72 in total

1.  Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.

Authors:  S J Charles; A T Moore; J R Yates; T Green; P Clark
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

2.  Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.

Authors:  Daniel Jagger; Gayle Collin; John Kelly; Emily Towers; Graham Nevill; Chantal Longo-Guess; Jennifer Benson; Karin Halsey; David Dolan; Jan Marshall; Jürgen Naggert; Andrew Forge
Journal:  Hum Mol Genet       Date:  2010-11-11       Impact factor: 6.150

3.  Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes.

Authors:  Jessica E Nesmith; Timothy L Hostelley; Carmen C Leitch; Maggie S Matern; Saumil Sethna; Rebecca McFarland; Sukanya Lodh; Christopher J Westlake; Ronna Hertzano; Zubair M Ahmed; Norann A Zaghloul
Journal:  Hum Mol Genet       Date:  2019-07-01       Impact factor: 6.150

4.  Levosimendan for bridging in a pediatric patient with Alström syndrome awaiting heart-lung transplantation.

Authors:  Marc-Phillip Hitz; Harald Bertram; Harald Köditz; Heidi Görler; Christoph M Happel; Armin Wessel; T Mesud Yelbuz
Journal:  Clin Res Cardiol       Date:  2008-07-16       Impact factor: 5.460

5.  Follicular variant of papillary thyroid cancer in Alström syndrome.

Authors:  M Papadakis; A Meyer; F Schuster; N Weyerbrock; C Corinth; C Dotzenrath
Journal:  Fam Cancer       Date:  2015-12       Impact factor: 2.375

6.  Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family.

Authors:  M Endo; Y Tasaka; N Matsuura; I Matsuda
Journal:  Eur J Pediatr       Date:  1976-11-03       Impact factor: 3.183

7.  [Alström syndrome--a rare disease of diabetic association].

Authors:  B Weichenhain; J Stemplinger; A G Ziegler; W Rabl; E Standl; H Stiegler
Journal:  Med Klin (Munich)       Date:  1997-03-15

8.  Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

Authors:  R Riise; S Andréasson; M K Borgaström; A F Wright; N Tommerup; T Rosenberg; K Tornqvist
Journal:  Br J Ophthalmol       Date:  1997-05       Impact factor: 4.638

9.  Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.

Authors:  Victoria J Knorz; Cosma Spalluto; Mark Lessard; Tracey L Purvis; Fiona F Adigun; Gayle B Collin; Neil A Hanley; David I Wilson; Thomas Hearn
Journal:  Mol Biol Cell       Date:  2010-09-15       Impact factor: 4.138

10.  Cardiac magnetic resonance imaging in Alström syndrome.

Authors:  Margaret A Loudon; Nicholas G Bellenger; Catherine M Carey; Richard B Paisey
Journal:  Orphanet J Rare Dis       Date:  2009-06-10       Impact factor: 4.123
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