Alström Syndrome References

SELECTED ALSTROM SYNDROME MEDICAL REFERENCES

                                     updated  2-15-2012                                     

Alström CH, Hallgren B, Nilsson LB, Asander H (1959): Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 34(Suppl. 129):1-35.

Bettini V, Maffei P, Pagano C, Romano S, Milan G, Favaretto F, Marshall JD, Paisey R, Scolari F, Greggio NA, Tosetto I, Naggert JK, Sicolo N, Vettor R.The progression from obesity to type 2 diabetes in Alström syndrome. Pediatr Diabetes. 2011 Jul 3. [Epub ahead of print]

Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK (2002): Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.  Nature Genetics 31(1): 74-78.

Girard D, Petrovsky N. (2011): Alström syndrome: insights into the pathogenesis of metabolic disorders. Nature Reviews Endocrinology 7 (2):77-88.

Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JFN, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI (2002): Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome.  Nature Genetics 31 (1): 79-83.

 Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J, Naggert J, Forge A.  (2011) Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.  Hum Mol Genet. 20(3):466-81.

Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N (2002): The Alstrom syndrome: is it a rare or unknown disease? Ann Ital Med Int 17(4):221-228.

Maffei P, Boschetti M, Orsi I, Marshall JD, Paisey RB, Beck S, Munno V, Minuto F, Barreca AM, Sicolo N (2002): The IGF system in Alstrom Syndrome. Growth Hormone and IGF Research 12(4): 291.

Marshall JD, Beck S, Maffei P, Naggert JK (2007): Alstrom Syndrome.  Eur J Hu Genet (Practical Genetics): 15, 2007, S. 1193–1202

Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK. (2007) Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat. 28(11):1114-1123.

Marshall JD, Maffei P, Collin GB, Naggert JK (2011).  Alstrom Syndrome: Genetics and Clinical Overview.  Current Genomics 12 (3): 225-235.

Marshall JD, Maffei P, Beck S, Barrett TG, Paisey RB.  Clinical utility gene card for: Alstrom syndrome. European Journal of Human Genetics (2011) e1–e3.

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A complete list of Alstrom Syndrome references 1959 to present.