-
1
-
-
38949105879
-
Phenotype and course of Hutchinson-Gilford progeria syndrome
-
Merideth MA, Gordon LB, Clauss S, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 2008; 358: 592-604.
-
(2008)
N Engl J Med
, vol.358
, pp. 592-604
-
-
Merideth, M.A.1
Gordon, L.B.2
Clauss, S.3
-
3
-
-
33845269544
-
Hutchinson-Gilford progeria syndrome: Review of the phenotype
-
Hennekam RC,. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 2006; 140: 2603-2624.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2603-2624
-
-
Hennekam, R.C.1
-
4
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003; 423: 293-298.
-
(2003)
Nature
, vol.423
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Gordon, L.B.3
-
5
-
-
10744229294
-
Lamin a truncation in Hutchinson-Gilford progeria
-
De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science 2003; 300: 2055.
-
(2003)
Science
, vol.300
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
-
6
-
-
84867380060
-
Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome
-
Gordon LB, Kleinman ME, Miller DT, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 2012; 109: 16666-16671.
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 16666-16671
-
-
Gordon, L.B.1
Kleinman, M.E.2
Miller, D.T.3
-
8
-
-
0027275830
-
Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria
-
Giro M, Davidson JM,. Familial co-segregation of the elastin phenotype in skin fibroblasts from Hutchinson-Gilford progeria. Mech Ageing Dev 1993; 70: 163-176.
-
(1993)
Mech Ageing Dev
, vol.70
, pp. 163-176
-
-
Giro, M.1
Davidson, J.M.2
-
9
-
-
0029437985
-
Regulation of elastin synthesis in pathological states
-
Davidson JM, Zang MC, Zoia O, et al. Regulation of elastin synthesis in pathological states. Ciba Found Symp 1995; 192: 81-94.
-
(1995)
Ciba Found Symp
, vol.192
, pp. 81-94
-
-
Davidson, J.M.1
Zang, M.C.2
Zoia, O.3
-
10
-
-
0345689603
-
PRELP, collagen, and a theory of Hutchinson-Gilford progeria
-
Lewis M,. PRELP, collagen, and a theory of Hutchinson-Gilford progeria. Ageing Res Rev 2003; 2: 95-105.
-
(2003)
Ageing Res Rev
, vol.2
, pp. 95-105
-
-
Lewis, M.1
-
11
-
-
35148831133
-
Disease progression in Hutchinson-Gilford progeria syndrome: Impact on growth and development
-
Gordon LB, McCarten KM, Giobbie-Hurder A, et al. Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatrics 2007; 120: 824-833.
-
(2007)
Pediatrics
, vol.120
, pp. 824-833
-
-
Gordon, L.B.1
McCarten, K.M.2
Giobbie-Hurder, A.3
-
12
-
-
0036120059
-
Restrictive dermopathy: A case report and a critical review of all hypotheses of its origin
-
Nijsten TE, De Moor A, Colpaert CG, et al. Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin. Pediatr Dermatol 2002; 19: 67-72.
-
(2002)
Pediatr Dermatol
, vol.19
, pp. 67-72
-
-
Nijsten, T.E.1
De Moor, A.2
Colpaert, C.G.3
-
13
-
-
47149099045
-
Sclerema neonatorum: A review of nomenclature, clinical presentation, histological features, differential diagnoses and management
-
Zeb A, Darmstadt GL,. Sclerema neonatorum: a review of nomenclature, clinical presentation, histological features, differential diagnoses and management. J Perinatol 2008; 28: 453-460.
-
(2008)
J Perinatol
, vol.28
, pp. 453-460
-
-
Zeb, A.1
Darmstadt, G.L.2
-
14
-
-
80051535556
-
Subcutaneous fat necrosis after moderate therapeutic hypothermia in neonates
-
Strohm B, Hobson A, Brocklehurst P, et al. Subcutaneous fat necrosis after moderate therapeutic hypothermia in neonates. Pediatrics 2011; 128: e450-e452.
-
(2011)
Pediatrics
, vol.128
-
-
Strohm, B.1
Hobson, A.2
Brocklehurst, P.3
-
15
-
-
0032726252
-
Subcutaneous fat necrosis of the newborn: A review of 11 cases
-
Burden AD, Krafchik BR,. Subcutaneous fat necrosis of the newborn: a review of 11 cases. Pediatr Dermatol 1999; 16: 384-387.
-
(1999)
Pediatr Dermatol
, vol.16
, pp. 384-387
-
-
Burden, A.D.1
Krafchik, B.R.2
-
16
-
-
54349094529
-
The stiff skin syndrome: Case series, differential diagnosis of the stiff skin phenotype, and review of the literature
-
Liu T, McCalmont TH, Frieden IJ, et al. The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Arch Dermatol 2008; 144: 1351-1359.
-
(2008)
Arch Dermatol
, vol.144
, pp. 1351-1359
-
-
Liu, T.1
McCalmont, T.H.2
Frieden, I.J.3
-
17
-
-
48749115529
-
Pediatric morphea (localized scleroderma): Review of 136 patients
-
Christen-Zaech S, Hakim MD, Afsar FS, et al. Pediatric morphea (localized scleroderma): review of 136 patients. J Am Acad Dermatol 2008; 59: 385-396.
-
(2008)
J Am Acad Dermatol
, vol.59
, pp. 385-396
-
-
Christen-Zaech, S.1
Hakim, M.D.2
Afsar, F.S.3
-
18
-
-
0029973805
-
Linear scleroderma and melorheostosis: Case presentation and literature review
-
Moreno Alvarez MJ, Lazaro MA, Espada G, et al. Linear scleroderma and melorheostosis: case presentation and literature review. Clin Rheumatol 1996; 15: 389-393.
-
(1996)
Clin Rheumatol
, vol.15
, pp. 389-393
-
-
Moreno Alvarez, M.J.1
Lazaro, M.A.2
Espada, G.3
-
19
-
-
33845654370
-
Systemic sclerosis in childhood: Clinical and immunologic features of 153 patients in an international database
-
Martini G, Foeldvari I, Russo R, et al. Systemic sclerosis in childhood: clinical and immunologic features of 153 patients in an international database. Arthritis Rheum 2006; 54: 3971-3978.
-
(2006)
Arthritis Rheum
, vol.54
, pp. 3971-3978
-
-
Martini, G.1
Foeldvari, I.2
Russo, R.3
-
20
-
-
45049088360
-
The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations
-
Molho-Pessach V, Agha Z, Aamar S, et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 2008; 59: 79-85.
-
(2008)
J Am Acad Dermatol
, vol.59
, pp. 79-85
-
-
Molho-Pessach, V.1
Agha, Z.2
Aamar, S.3
-
21
-
-
34447092541
-
Hutchinson-Gilford progeria syndrome: Clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature
-
Mazereeuw-Hautier J, Wilson LC, Mohammed S, et al. Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. Br J Dermatol 2007; 156: 1308-1314.
-
(2007)
Br J Dermatol
, vol.156
, pp. 1308-1314
-
-
Mazereeuw-Hautier, J.1
Wilson, L.C.2
Mohammed, S.3
-
22
-
-
84866100708
-
Skin signs as early manifestations of Hutchinson-Gilford progeria syndrome
-
d'Erme AM, Gola MF, Paradisi M, et al. Skin signs as early manifestations of Hutchinson-Gilford progeria syndrome. Arch Dis Child 2012; 97: 806-807.
-
(2012)
Arch Dis Child
, vol.97
, pp. 806-807
-
-
D'Erme, A.M.1
Gola, M.F.2
Paradisi, M.3
-
23
-
-
79251609001
-
Three cases of Hutchinson-Gilford progeria syndrome
-
Doubaj Y, Lamzouri A, Elalaoui SC, et al. Three cases of Hutchinson-Gilford progeria syndrome. Arch Pediatr 2011; 18: 156-159.
-
(2011)
Arch Pediatr
, vol.18
, pp. 156-159
-
-
Doubaj, Y.1
Lamzouri, A.2
Elalaoui, S.C.3
-
24
-
-
0033857938
-
Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: A case report and brief review of the literature
-
Jansen T, Romiti R,. Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature. Pediatr Dermatol 2000; 17: 282-285.
-
(2000)
Pediatr Dermatol
, vol.17
, pp. 282-285
-
-
Jansen, T.1
Romiti, R.2
|