-
1
-
-
0025029949
-
Molecular structure, chromosome assignment, and promoter organization of the human matrix gla protein gene
-
Cancela L, Hsieh CL, Francke U, Price PA. 1990. Molecular structure, chromosome assignment, and promoter organization of the human matrix gla protein gene. J Biol Chem 265:15040-15048.
-
(1990)
J Biol Chem
, vol.265
, pp. 15040-15048
-
-
Cancela, L.1
Hsieh, C.L.2
Francke, U.3
Price, P.A.4
-
3
-
-
18244394309
-
A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome
-
Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA. 2005. A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet Part A 135A:36-40.
-
(2005)
Am J Med Genet Part A
, vol.135 A
, pp. 36-40
-
-
Hur, D.J.1
Raymond, G.V.2
Kahler, S.G.3
Riegert-Johnson, D.L.4
Cohen, B.A.5
-
4
-
-
0028144305
-
Male with type II autosomal recessive cutis laxa
-
Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y. 1994. Male with type II autosomal recessive cutis laxa. Clin Genet 45:40-43.
-
(1994)
Clin Genet
, vol.45
, pp. 40-43
-
-
Imaizumi, K.1
Kurosawa, K.2
Makita, Y.3
Masuno, M.4
Kuroki, Y.5
-
5
-
-
0036713921
-
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
-
Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. 2002. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 11:2113-2118.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2113-2118
-
-
Loeys, B.1
Van Maldergem, L.2
Mortier, G.3
Coucke, P.4
Gerniers, S.5
Naeyaert, J.M.6
De Paepe, A.7
-
6
-
-
0030947025
-
Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein
-
Luo G, Ducy P, McKee MD, Pinero GJ, Loyer F, Behringer RR, Karsenty G. 1997. Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature 386:78-81.
-
(1997)
Nature
, vol.386
, pp. 78-81
-
-
Luo, G.1
Ducy, P.2
McKee, M.D.3
Pinero, G.J.4
Loyer, F.5
Behringer, R.R.6
Karsenty, G.7
-
8
-
-
0038793696
-
Mid-dermal elastolysis: A clinical histologic, and immunohistochemical study of 11 patients
-
Patroi I, Annessi G, Girolomoni G. 2003. Mid-dermal elastolysis: A clinical histologic, and immunohistochemical study of 11 patients. J Am Acad Dermatol 48:846-851.
-
(2003)
J Am Acad Dermatol
, vol.48
, pp. 846-851
-
-
Patroi, I.1
Annessi, G.2
Girolomoni, G.3
-
9
-
-
0034029958
-
Neuroaxonal leukodystrophy associated with congenital cutis laxa: Report of an autopsy case
-
Shintaku M, Uemura V, Fujii I, Ohtani Y, Mike T, Tokunaga M, Tsubura A. 2000. Neuroaxonal leukodystrophy associated with congenital cutis laxa: Report of an autopsy case. Acta Neuropathol 99:420-424.
-
(2000)
Acta Neuropathol
, vol.99
, pp. 420-424
-
-
Shintaku, M.1
Uemura, V.2
Fujii, I.3
Ohtani, Y.4
Mike, T.5
Tokunaga, M.6
Tsubura, A.7
-
10
-
-
0027324898
-
The clinical spectrum of mid-dermal elastolysis and the role of UV light in its pathogenesis
-
Snider RL, Lang PG, Maize JC. 1993. The clinical spectrum of mid-dermal elastolysis and the role of UV light in its pathogenesis. J Am Acad Dermatol 28:938-942.
-
(1993)
J Am Acad Dermatol
, vol.28
, pp. 938-942
-
-
Snider, R.L.1
Lang, P.G.2
Maize, J.C.3
-
11
-
-
0032581049
-
Keutel syndrome: Further characterization and review
-
Teebi AS, Lambert DM, Kaye GM, Al-Fifi S, Tewfiki TL, Azouz EM. 1998. Keutel syndrome: Further characterization and review. Am J Med Genet 78:182-187.
-
(1998)
Am J Med Genet
, vol.78
, pp. 182-187
-
-
Teebi, A.S.1
Lambert, D.M.2
Kaye, G.M.3
Al-Fifi, S.4
Tewfiki, T.L.5
Azouz, E.M.6
|