... Abstract Alström syndrome is a recessively inherited disorder characterized by symptoms of cone-rod dystrophy and, in some, sudden and severe mitogenic cardiomyopathy. In early childhood, sensorineural hearing loss and truncal obesity develop. As the patients progress through the first decade...

...References References 1. Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK: Clinical utility gene card for: Alström Syndrome - update 2013. Eur J Hum Genet 2013, DOI: 10.10358/ejhg.2013.61. 2. Marshall JD, Maffei P, Collin GB, Naggert JK: Alström syndrome: genetics...

... genes on 15q11-13. Wealso discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome,Albright’s hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome,Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34...

..., cystic fibrosis, Alström's syndrome, Noonan's syndrome and Fanconi's syndrome) or concomitant treatment with corticosteroids. Overall, the risk of developing diabetes for GH-treated children was estimated to be similar to that for the general population [ 17 ]. However, the population of the NCGS...

... Schmitt R Israilova M: , et alStromal cells protect against acute tubular injury via an endocrine effect. J Am Soc Nephrol 2007; 18: 2486-2496 ...

... is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 2002;31:21-23. 19. Hearn T, Renforth GL, Spalluto C, Hanley NA, et al: Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002;31:79-83. 20. Margulies...

... acids, causes Alstrom syndrome. Nat Genet 2002;31:79-83. 20. Margulies M, Egholm M, Altman WE, Attiya S, et al: Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005;437:376-380. 21. Harris TD, Buzby PR, Babcock H, Beer E, et al: Single-molecule DNA sequencing...

... and mental retardation. Other less commonly associated syndromes are Refsum disease, mucopolysaccharidosis, Cockayne disease and Alstrom disease among others. Many different mutations in different genes have been reported to cause different forms of RP. Depending on its protein product, different stages...

... cancer [ 14 ], polycystic kidney disease [ 15 ], Bardet-Biedl/Alström syndrome [ 18 ] and retinal disease [ 19 ]. A targeted next-generation sequencing assay to identify mutations causing MODY and neonatal diabetes has been developed by the authors [Ellard et al., submitted]. Their assay uses the Agilent...

... from septic rats. Crit Care Med 2009; 37: 2045-2050 28. Humphreys BD Bonventre JD: Mesenchymal stem cells in acute kidney injury. Annu Rev Med 2008; 59: 311-325 29. Bi B Schmitt R Israilova M: , et alStromal cells protect against acute tubular injury via an endocrine effect. J Am Soc...

... homeostasis through the leptin-melanocortin signalling (table 2 ) [ 13 ]. Many syndromes include obesity as part of their clinical display, and most of these syndromes, such as Prader-Willi, Cohen, Alström and Bardet-Biedl syndromes, have been genetically mapped (table 2 ), but not all causative genes have...

... HB, Dollfus H, Mandel JL, Muller J: Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes. J Med Genet 2012;49:502-512. 19. O'Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, Hall G, O'Grady...