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Items: 8

1.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G.

Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21.

2.

Regulation of muscle mass by myostatin.

Lee SJ.

Annu Rev Cell Dev Biol. 2004;20:61-86. Review.

PMID:
15473835
3.

Myostatin mutation associated with gross muscle hypertrophy in a child.

Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ.

N Engl J Med. 2004 Jun 24;350(26):2682-8. No abstract available.

4.

Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Pröpsting M, Büttner C, Manns MP, Lochs H, Brabant G.

J Clin Endocrinol Metab. 2001 May;86(5):2289-95.

PMID:
11344241
5.

Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes.

Ferrell RE, Conte V, Lawrence EC, Roth SM, Hagberg JM, Hurley BF.

Genomics. 1999 Dec 1;62(2):203-7.

PMID:
10610713
6.

Mutations in myostatin (GDF8) in double-muscled Belgian Blue and Piedmontese cattle.

Kambadur R, Sharma M, Smith TP, Bass JJ.

Genome Res. 1997 Sep;7(9):910-6.

7.

A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle.

Grobet L, Martin LJ, Poncelet D, Pirottin D, Brouwers B, Riquet J, Schoeberlein A, Dunner S, Ménissier F, Massabanda J, Fries R, Hanset R, Georges M.

Nat Genet. 1997 Sep;17(1):71-4.

PMID:
9288100
8.

Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member.

McPherron AC, Lawler AM, Lee SJ.

Nature. 1997 May 1;387(6628):83-90.

PMID:
9139826

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