Previous Clinical Papers

Manara R, Citton V, Maffei P, Marshall JD, Naggert JK, Milan G, Vettor R, Baglione A, Vitale A, Briani C, Di Salle F, Favaro A. (2014): Degeneration and Plasticity of the Optic Pathway in Alström Syndrome. AJNR Am J Neuroradiol. 2014 Oct 29. [Epub ahead of print]

Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan S, Tos T, Esen I, Taşkesen M, Cayır A, Oztürk S, Ustün I, Ataman E, Karaca E, Ozdemir TR, Erol I, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman I, Möller C, Müller J, Naggert JK, Ozgül RK. (2014):The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. J Hum Genet. 2014 Oct 9. doi: 10.1038/jhg.2014.85. [Epub ahead of print]

Frölander HE, Möller C, Marshall JD, Sundqvist A, Rönnåsen B, Falkensson L, Lyxell B. (2014): Theory-of-mind in adolescents and young adults with Alström syndrome. Int J Pediatr Otorhinolaryngol. 2014 Mar;78(3):530-6. doi: 10.1016/j.ijporl.2013.12.038. Epub 2014 Jan 9.

Citton V, Favaro A, Bettini V, Gabrieli J, Milan G, Greggio NA, Marshall JD, Naggert JK, Manara R, Maffei P. (2014): Brain involvement in Alström syndrome. Orphanet J Rare Dis. 2013 Feb 13;8:24. doi: 10.1186/1750-1172-8-24.

Louw JJ, Corveleyn A, Jia Y, Iqbal S, Boshoff D, Gewillig M, Peeters H, Moerman P, Devriendt K. (2014): Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings. Eur J Med Genet 57(9):532-5.

Corbetti F, Razzolini R, Bettini V, Marshall JD, Naggert J, Tona F, Milan G, Maffei P. (2013): Alström Syndrome: Cardiac Magnetic Resonance findings.
Int J Cardiol.  167(4):1257-63

Romano S, Maffei P, Bettini V, Milan G, Favaretto F, Gardiman M, Marshall JD, Greggio NA, Pozzan GB, Collin GB, Naggert JK, Bronson R, Vettor R. Alström syndrome is associated with short stature and reduced GH reserve. Clin Endocrinol (Oxf). 2013 Oct;79(4):529-36. doi: 10.1111/cen.12180. Epub 2013 Mar 26.

Taşdemir S, Güzel-Ozantürk A, Marshall J, Collin G, Ozgül R, Narin N, Dündar M, Naggert J. (2012): Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome. Clin Genet. Apr 25. doi: 10.1111/j.1399-0004.2012.01883.x.

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R (2012):.Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome. Pediatr Cardiol.  Mar 24. [Epub ahead of print]

Taşkesen M, Collin GB, Evsikov AV, Güzel A, Özgül RK, Marshall JD, Naggert JK. (2012):Novel Alu retrotransposon insertion leading to Alström syndrome. Hum Genet. 131(3):407-13.

Kocova M, Sukarova-Angelovska E, Kacarska R, Maffei P, Milan G, Marshall JD. (2011):The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations. Br J Dermatol.164(4):878-80.

Bettini VMaffei PPagano CRomano SMilan GFavaretto FMarshall JDPaisey RScolari FGreggio NATosetto INaggert JKSicolo NVettor R   (2011): The progression from obesity to type 2 diabetes in Alström syndrome.  13(1):59-67

Maffei P, Boschetti M, Marshall JD, Paisey RB, Beck S, Resmini E, Collin GB, Naggert JK, Milan G, Vettor R, Minuto F, Sicolo N, Barreca A. (2007): Characterization of the IGF system in 15 patients with Alström syndrome. Clin Endocrinol (Oxf).66(2):269-75.

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.

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