Naggert JK - Search Results

1

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R. Mahamid J, et al. Among authors: naggert jk. Pediatr Cardiol. 2013 Feb;34(2):455-8. doi: 10.1007/s00246-012-0296-6. Epub 2012 Mar 24. Pediatr Cardiol. 2013. PMID: 22447358 Free PMC article.

2

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: naggert jk. Genomics. 1998 Nov 1;53(3):359-64. doi: 10.1006/geno.1998.5542. Genomics. 1998. PMID: 9799602

3

TGFA: exon-intron structure and evaluation as a candidate gene for Alström syndrome.

Collin GB, Marshall JD, Naggert JK, Nishina PM. Collin GB, et al. Among authors: naggert jk. Clin Genet. 1999 Jan;55(1):61-2. doi: 10.1034/j.1399-0004.1999.550111.x. Clin Genet. 1999. PMID: 10066034 No abstract available.

4

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: naggert jk. Hum Genet. 1999 Nov;105(5):474-9. doi: 10.1007/s004390051133. Hum Genet. 1999. PMID: 10598815

5

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

6

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

7

Genetic modifiers interact with Cpe(fat) to affect body weight, adiposity, and hyperglycemia.

Collin GB, Maddatu TP, Sen S, Naggert JK. Collin GB, et al. Among authors: naggert jk. Physiol Genomics. 2005 Jul 14;22(2):182-90. doi: 10.1152/physiolgenomics.00208.2003. Epub 2005 May 3. Physiol Genomics. 2005. PMID: 15870393

8

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: naggert jk. 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.

9

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. Among authors: naggert jk. Clin Endocrinol (Oxf). 2007 Feb;66(2):269-75. doi: 10.1111/j.1365-2265.2007.02721.x. Clin Endocrinol (Oxf). 2007. PMID: 17223998

10

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

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