-
3
-
-
0038376023
-
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
-
DOI 10.1007/s10038-003-0025-3
-
Cao H, Hegele RA. 2003. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet 48:271-274. (Pubitemid 36759489)
-
(2003)
Journal of Human Genetics
, vol.48
, Issue.5
, pp. 271-274
-
-
Cao, H.1
Hegele, R.A.2
-
4
-
-
10744229294
-
Lamin A truncation in Hutchinson-Gilford progeria
-
De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N. 2003. Lamin A truncation in Hutchinson-Gilford progeria. Science 300:2055.
-
(2003)
Science
, vol.300
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
Navarro, C.4
Amiel, J.5
Boccaccio, I.6
Lyonnet, S.7
Stewart, C.L.8
Munnich, A.9
Le Merrer, M.10
Levy, N.11
-
5
-
-
0013907774
-
Werner's syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process
-
Epstein CJ, Martin GM, Schultz AL, Motulsky AG. 1966. Werner's syndrome: A review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine 45:177-1222.
-
(1966)
Medicine
, vol.45
, pp. 177-1222
-
-
Epstein, C.J.1
Martin, G.M.2
Schultz, A.L.3
Motulsky, A.G.4
-
6
-
-
0037673950
-
Recurrent de novo point mutations in lamin a cause Hutchinson-Gilford progeria syndrome
-
DOI 10.1038/nature01629
-
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. 2003. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423:293-298. (Pubitemid 40852699)
-
(2003)
Nature
, vol.423
, Issue.6937
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Gordon, L.B.3
Glynn, M.W.4
Singer, J.5
Scott, L.6
Erdos, M.R.7
Robbins, C.M.8
Moses, T.Y.9
Berglund, P.10
Dutra, A.11
Pak, E.12
Durkin, S.13
Csoka, A.B.14
Boehnke, M.15
Glover, T.W.16
Collins, F.S.17
-
7
-
-
0033462185
-
Can Hutchinson-Gilford progeria syndrome be a neonatal condition? [1]
-
DOI 10.1002/(SICI)1096-8628(19991222)87:5<450::AID-AJMG16>3.0.CO;2- T
-
Faivre L, Khau Van Kien Ph, Madinier-Chappat N, Nivelon-Chevallier A. 1999. Can Hutchinson-Gilford progeria syndrome be a neonatal condition? (letter). Am J Med Genet 87:450-452. (Pubitemid 30007733)
-
(1999)
American Journal of Medical Genetics
, vol.87
, Issue.5
, pp. 450-452
-
-
Faivre, L.1
Van Kien, Ph.K.2
Madinier-Chappat, N.3
Nivelon-Chevallier, A.4
Beer, F.5
Lemerrer, M.6
-
9
-
-
0016245533
-
A generalized disorder of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hyperostosis
-
Lenz WD, Majewski FA. 1974. A generalized disorder of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hyperostosis. Birth Defects Orig Art Ser X:133-136.
-
(1974)
Birth Defects Orig Art Ser
, vol.10
, pp. 133-136
-
-
Lenz, W.D.1
Majewski, F.A.2
-
11
-
-
0017347683
-
Progeria: A cell culture study and clinical report of familial incidence
-
DOI 10.1007/BF00477545
-
Rautenstrauch T, Snigula F, Krieg T, Gay S, Muller PK. 1977. Progeria: A cell culture study and clinical report of familial incidence. Eur J Pediatr 124:101-111. (Pubitemid 8021695)
-
(1977)
European Journal of Pediatrics
, vol.124
, Issue.2
, pp. 101-111
-
-
Rautenstrauch, T.1
Snigula, F.2
Krieg, T.3
-
12
-
-
0345355134
-
Lethal neonatal Hutchinson-Gilford progeria syndrome
-
DOI 10.1002/(SICI)1096-8628(19990129)82:3<242::AID-AJMG9>3.0.CO;2-E
-
Rodríguez JI, Perez-Alonso P, Funes R, Perez-Rodríguez J. 1999. Lethal neonatal Hutchinson-Gilford progeria syndrome. Am J Med Genet 82:242-248. (Pubitemid 29078812)
-
(1999)
American Journal of Medical Genetics
, vol.82
, Issue.3
, pp. 242-248
-
-
Rodriguez, J.I.1
Perez-Alonso, P.2
Funes, R.3
Perez-Rodriguez, J.4
-
13
-
-
0003489494
-
-
Doctoral dissertation, Kiel University. Kiel: Schmidt and Klauning
-
Werner O. 1904. U?ber Katarakt in Verbindung mit Skledermie. (Doctoral dissertation, Kiel University). Kiel: Schmidt and Klauning.
-
(1904)
U?ber Katarakt in Verbindung Mit Skledermie
-
-
Werner, O.1
-
14
-
-
70349505226
-
Petty-Laxova-Wiedemann progeroid syndrome
-
Italy: Times Mirror International Publishers Limited
-
Wiedeman H-R, Kunze J. 1997. Petty-Laxova-Wiedemann progeroid syndrome. In: Clinical syndromes. 3rd edition. Italy: Times Mirror International Publishers Limited. pp. 310-311.
-
(1997)
Clinical Syndromes. 3rd Edition
, pp. 310-311
-
-
Wiedeman, H.-R.1
Kunze, J.2
-
15
-
-
30644470101
-
Geroderma osteodysplastica-what would Virchow have thought about it?!
-
Letter
-
Wiedemann H-R. 1978. Geroderma osteodysplastica-what would Virchow have thought about it?! (Letter). Am J Hum Genet 43:245.
-
(1978)
Am J Hum Genet
, vol.43
, pp. 245
-
-
Wiedemann, H.-R.1
-
16
-
-
0018373151
-
An unidentified neo-natal progeroid syndrome: Follow up report
-
Wiedemann H-R. 1979. An unidentified neo-natal progeroid syndrome: Follow up report. Eur J Pediatr 130:65.
-
(1979)
Eur J Pediatr
, vol.130
, pp. 65
-
-
Wiedemann, H.-R.1
-
17
-
-
0026562656
-
Newly recognized congenital progeroid disorder
-
letter
-
Wiedemann H-R. 1992. Newly recognized congenital progeroid disorder (letter). Am J Med Genet 42:857.
-
(1992)
Am J Med Genet
, vol.42
, pp. 857
-
-
Wiedemann, H.-R.1
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