-
1
-
-
33748329411
-
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia due to zinc metalloproteinase deficiency
-
Agarwal AK, Zhou XJ, Hall RK, Nicholls K, Bankier A, Van Esch H, Fryns J-P, Garg A. 2006. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia due to zinc metalloproteinase deficiency. J Invest Med 54: 208-213.
-
(2006)
J Invest Med
, vol.54
, pp. 208-213
-
-
Agarwal, A.K.1
Zhou, X.J.2
Hall, R.K.3
Nicholls, K.4
Bankier, A.5
Van Esch, H.6
Fryns, J.7
Garg, A.8
-
2
-
-
28344440157
-
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy
-
Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G. 2005. Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics 23: 150-158.
-
(2005)
Physiol Genomics
, vol.23
, pp. 150-158
-
-
Filesi, I.1
Gullotta, F.2
Lattanzi, G.3
D'Apice, M.R.4
Capanni, C.5
Nardone, A.M.6
Columbaro, M.7
Scarano, G.8
Mattioli, E.9
Sabatelli, P.10
Maraldi, N.M.11
Biocca, S.12
Novelli, G.13
-
3
-
-
33845269544
-
Hutchinson-Gilford Progeria syndrome: Review of the phenotype
-
Hennekam RCM. 2006. Hutchinson-Gilford Progeria syndrome: Review of the phenotype. Am J Med Genet Part A 140A: 2603-2624.
-
(2006)
Am J Med Genet Part A
, vol.140
, pp. 2603-2624
-
-
Hennekam, R.C.M.1
-
4
-
-
35848929929
-
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes
-
Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. 2007. Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. Am J Med Genet Part A 143A: 2598-2603.
-
(2007)
Am J Med Genet Part A
, vol.143
, pp. 2598-2603
-
-
Kosho, T.1
Takahashi, J.2
Momose, T.3
Nakamura, A.4
Sakurai, A.5
Wada, T.6
Yoshida, K.7
Wakui, K.8
Suzuki, T.9
Kasuga, K.10
Nishimura, G.11
Kato, H.12
Fukushima, Y.13
-
5
-
-
52449133616
-
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral displasia type A, a rare premature ageing syndrome
-
Lombardi F, Fasciglione GF, D'Apice MR, Vielle A, D'Adamo M, Sbraccia P, Marini S, Borgiani P, Coletta M, Novelli G. 2008. Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral displasia type A, a rare premature ageing syndrome. Clin Genet 74: 374-383.
-
(2008)
Clin Genet
, vol.74
, pp. 374-383
-
-
Lombardi, F.1
Fasciglione, G.F.2
D'Apice, M.R.3
Vielle, A.4
D'Adamo, M.5
Sbraccia, P.6
Marini, S.7
Borgiani, P.8
Coletta, M.9
Novelli, G.10
-
7
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamin A/C
-
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. 2002. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamin A/C. Am J Hum Genet 71: 426-431.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
Helbling-Leclerc, A.4
D'Apice, M.R.5
Massart, C.6
Capon, F.7
Sbraccia, P.8
Federici, M.9
Lauro, R.10
Tudisco, C.11
Pallotta, R.12
Scarano, G.13
Dallapiccola, B.14
Merlini, L.15
Bonne, G.16
-
8
-
-
0014216624
-
Su un nucleo familiare di progeria
-
Rava G. 1967. Su un nucleo familiare di progeria. Minerva Med 58: 1502-1509.
-
(1967)
Minerva Med
, vol.58
, pp. 1502-1509
-
-
Rava, G.1
-
9
-
-
30844469352
-
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype
-
Shackleton S, Smallwood DT, Clayton P, Wilson LC, Agarwal AK, Garg A, Trembath RC. 2005. Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. J Med Genet 42: e36.
-
(2005)
J Med Genet
, vol.42
-
-
Shackleton, S.1
Smallwood, D.T.2
Clayton, P.3
Wilson, L.C.4
Agarwal, A.K.5
Garg, A.6
Trembath, R.C.7
-
10
-
-
0036171687
-
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia
-
Simha V, Garg A. 2002. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 87: 776-785.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 776-785
-
-
Simha, V.1
Garg, A.2
-
11
-
-
0037564014
-
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy
-
Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A. 2003. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab 88: 2821-2824.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 2821-2824
-
-
Simha, V.1
Agarwal, A.K.2
Oral, E.A.3
Fryns, J.P.4
Garg, A.5
-
12
-
-
68849119046
-
Laminopathies and the long strange trip from basic cell biology to therapy
-
Worman HJ, Fong LG, Muchir A, Young SG. 2009. Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest 119: 1825-1836.
-
(2009)
J Clin Invest
, vol.119
, pp. 1825-1836
-
-
Worman, H.J.1
Fong, L.G.2
Muchir, A.3
Young, S.G.4
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