Marshall JD - Search Results

1

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. Arch Intern Med. 2005 Mar 28;165(6):675-83. doi: 10.1001/archinte.165.6.675. Arch Intern Med. 2005. PMID: 15795345

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: marshall jd. Nat Genet. 2002 May;31(1):74-8. doi: 10.1038/ng867. Epub 2002 Apr 8. Nat Genet. 2002. PMID: 11941369

3

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. Hum Mutat. 2007 Nov;28(11):1114-23. doi: 10.1002/humu.20577. Hum Mutat. 2007. PMID: 17594715

4

Alström syndrome.

Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. 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

5

Alström syndrome: genetics and clinical overview.

Marshall JD, Maffei P, Collin GB, Naggert JK. Marshall JD, et al. Curr Genomics. 2011 May;12(3):225-35. doi: 10.2174/138920211795677912. Curr Genomics. 2011. PMID: 22043170 Free PMC article.

6

Homozygosity mapping at Alström syndrome to chromosome 2p.

Collin GB, Marshall JD, Cardon LR, Nishina PM. Collin GB, et al. Among authors: marshall jd. Hum Mol Genet. 1997 Feb;6(2):213-9. doi: 10.1093/hmg/6.2.213. Hum Mol Genet. 1997. PMID: 9063741

7

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM. Marshall JD, et al. Am J Med Genet. 1997 Dec 12;73(2):150-61. doi: 10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1997. PMID: 9409865 Review.

8

Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.

Collin GB, Nishina PM, Marshall JD, Naggert JK. Collin GB, et al. Among authors: marshall jd. Genomics. 1998 Nov 1;53(3):359-64. doi: 10.1006/geno.1998.5542. Genomics. 1998. PMID: 9799602

9

Alström syndrome: further evidence for linkage to human chromosome 2p13.

Collin GB, Marshall JD, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishina PM. Collin GB, et al. Among authors: marshall jd. Hum Genet. 1999 Nov;105(5):474-9. doi: 10.1007/s004390051133. Hum Genet. 1999. PMID: 10598815

10

Alms1-disrupted mice recapitulate human Alström syndrome.

Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK. Collin GB, et al. Among authors: marshall jd. Hum Mol Genet. 2005 Aug 15;14(16):2323-33. doi: 10.1093/hmg/ddi235. Epub 2005 Jul 6. Hum Mol Genet. 2005. PMID: 16000322 Free PMC article.

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