Maffei P - Search Results

1

Alström Syndrome: Mutation Spectrum of ALMS1.

Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK. Marshall JD, et al. Among authors: maffei p. Hum Mutat. 2015 Jul;36(7):660-8. doi: 10.1002/humu.22796. Epub 2015 May 18. Hum Mutat. 2015. PMID: 25846608 Free PMC article.

2

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

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. Collin GB, et al. Among authors: maffei p. Nat Genet. 2002 May;31(1):74-8. doi: 10.1038/ng867. Epub 2002 Apr 8. Nat Genet. 2002. PMID: 11941369

3

The Alström syndrome: is it a rare or unknown disease?

Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N. Maffei P, et al. Ann Ital Med Int. 2002 Oct-Dec;17(4):221-8. Ann Ital Med Int. 2002. PMID: 12532560 Review.

4

Neuroendocrine tumor of small bowel.

Martini C, Sturniolo GC, De Carlo E, Tamagno G, Maffei P, Mioni R, Vettor R, Lise M, Guido M, Sicolo N. Martini C, et al. Among authors: maffei p. Gastrointest Endosc. 2004 Sep;60(3):431. doi: 10.1016/s0016-5107(04)01702-x. Gastrointest Endosc. 2004. PMID: 15332039 No abstract available.

5

New Alström syndrome phenotypes based on the evaluation of 182 cases.

Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. Marshall JD, et al. Among authors: maffei p. Arch Intern Med. 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. Arch Intern Med. 2005. PMID: 15795345

6

Characterization of the IGF system in 15 patients with Alström syndrome.

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. Maffei P, et al. Clin Endocrinol (Oxf). 2007 Feb;66(2):269-75. doi: 10.1111/j.1365-2265.2007.02721.x. Clin Endocrinol (Oxf). 2007. PMID: 17223998

7

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

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. Marshall JD, et al. Among authors: maffei p. Hum Mutat. 2007 Nov;28(11):1114-23. doi: 10.1002/humu.20577. Hum Mutat. 2007. PMID: 17594715

8

Alström syndrome.

Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Among authors: maffei p. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554

9

Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.

Romano S, Milan G, Veronese C, Collin GB, Marshall JD, Centobene C, Favaretto F, Dal Pra C, Scarda A, Leandri S, Naggert JK, Maffei P, Vettor R. Romano S, et al. Among authors: maffei p. Int J Mol Med. 2008 Jun;21(6):731-6. Int J Mol Med. 2008. PMID: 18506366

10

Protection from clinical peripheral sensory neuropathy in Alström syndrome in contrast to early-onset type 2 diabetes.

Paisey RB, Paisey RM, Thomson MP, Bower L, Maffei P, Shield JP, Barnett S, Marshall JD. Paisey RB, et al. Among authors: maffei p. Diabetes Care. 2009 Mar;32(3):462-4. doi: 10.2337/dc08-1584. Epub 2008 Dec 17. Diabetes Care. 2009. PMID: 19092165 Free PMC article.

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