-
1
-
-
0022543280
-
Interstitial deletion of (17)(p11.2p11.2) in nine patients
-
Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E 1986 Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 24:393-414 (Pubitemid 16017634)
-
(1986)
American Journal of Medical Genetics
, vol.24
, Issue.3
, pp. 393-414
-
-
Smith, A.C.M.1
McGavran, L.2
Robinson, J.3
-
2
-
-
0026347929
-
Molecular analysis of the Smith-Magenis Syndrome: A possible contiguous-gene syndrome associated with del(17)(p11.2)
-
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR 1991 Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet 49:1207-1218 (Pubitemid 21891766)
-
(1991)
American Journal of Human Genetics
, vol.49
, Issue.6
, pp. 1207-1218
-
-
Greenberg, F.1
Guzzetta, V.2
De Oca-Luna, R.M.3
Magenis, R.E.4
Smith, A.C.M.5
Richter, S.F.6
Kondo, I.7
Dobyns, W.B.8
Patel, P.I.9
Lupski, J.R.10
-
3
-
-
0029978246
-
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients
-
Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI 1996 Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 58:998-1007 (Pubitemid 26115171)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.5
, pp. 998-1007
-
-
Juyal, R.C.1
Figuera, L.E.2
Hauge, X.3
Elsea, S.H.4
Lupski, J.R.5
Greenberg, F.6
Baldini, A.7
Patel, P.I.8
-
6
-
-
0034042539
-
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
-
Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR 2000 Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet 37:428-433 (Pubitemid 30386734)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.6
, pp. 428-433
-
-
Potocki, L.1
Glaze, D.2
Tan, D.-X.3
Park, S.-S.4
Kashork, C.D.5
Shaffer, L.G.6
Reiter, R.J.7
Lupski, J.R.8
-
7
-
-
0034968956
-
Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome
-
DOI 10.1067/mpd.2001.115018
-
De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A 2001 Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr 139:111-116 (Pubitemid 32613996)
-
(2001)
Journal of Pediatrics
, vol.139
, Issue.1
, pp. 111-116
-
-
De Leersnyder, H.1
De Blois, M.-C.2
Claustrat, B.3
Romana, S.4
Albrecht, U.5
Von Kleist-Retzow, J.-C.6
Delobel, B.7
Viot, G.8
Lyonnet, S.9
Vekemans, M.10
Munnich, A.11
-
9
-
-
33747831387
-
Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment
-
DOI 10.1016/j.tem.2006.07.007, PII S1043276006001329
-
De Leersnyder H 2006 Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment. Trends Endocrinol Metab 17:291-298 (Pubitemid 44287474)
-
(2006)
Trends in Endocrinology and Metabolism
, vol.17
, Issue.7
, pp. 291-298
-
-
De Leersnyder, H.1
-
11
-
-
33646125422
-
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)
-
Gropman AL, Duncan WC, Smith AC 2006 Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). Pediatr Neurol 34:337-350
-
(2006)
Pediatr Neurol
, vol.34
, pp. 337-350
-
-
Gropman, A.L.1
Duncan, W.C.2
Smith, A.C.3
-
12
-
-
75149146548
-
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome
-
Chik CL, Rollag MD, Duncan WC, Smith AC 2010 Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome. Am J Med Genet A 152A:96-101
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 96-101
-
-
Chik, C.L.1
Rollag, M.D.2
Duncan, W.C.3
Smith, A.C.4
-
13
-
-
67649887836
-
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion
-
Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C, Jones M, Chandrasekharappa SC, Lewy AJ, Smith AC, Magenis RE 2009 Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. Am J Med Genet A 149A:1382-1391
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1382-1391
-
-
Boudreau, E.A.1
Johnson, K.P.2
Jackman, A.R.3
Blancato, J.4
Huizing, M.5
Bendavid, C.6
Jones, M.7
Chandrasekharappa, S.C.8
Lewy, A.J.9
Smith, A.C.10
Magenis, R.E.11
-
14
-
-
80052072232
-
Salivary melatonin rhythm as a marker of the circadian system in healthy children and those with attention-deficit/hyperactivity disorder
-
Nováková M, Paclt I, Ptáček R, Kuželová H, Hájek I, Sumová A 2011 Salivary melatonin rhythm as a marker of the circadian system in healthy children and those with attention-deficit/hyperactivity disorder. Chronobiol Int 28:630-637
-
(2011)
Chronobiol Int
, vol.28
, pp. 630-637
-
-
Nováková, M.1
Paclt, I.2
Ptáček, R.3
Kuželová, H.4
Hájek, I.5
Sumová, A.6
-
15
-
-
0032511229
-
A serum shock induces circadian gene expression in mammalian tissue culture cells
-
DOI 10.1016/S0092-8674(00)81199-X
-
Balsalobre A, Damiola F, Schibler U 1998 A serum shock induces circadian gene expression in mammalian tissue culture cells. Cell 93:929-937 (Pubitemid 28280787)
-
(1998)
Cell
, vol.93
, Issue.6
, pp. 929-937
-
-
Balsalobre, A.1
Damiola, F.2
Schibler, U.3
-
16
-
-
52149109334
-
The genetics of mammalian circadian order and disorder: Implications for physiology and disease
-
Takahashi JS, Hong HK, Ko CH, McDearmon EL 2008 The genetics of mammalian circadian order and disorder: implications for physiology and disease. Nat Rev Genet 9:764-775
-
(2008)
Nat Rev Genet
, vol.9
, pp. 764-775
-
-
Takahashi, J.S.1
Hong, H.K.2
Ko, C.H.3
McDearmon, E.L.4
-
17
-
-
0032914652
-
Circadian variation in the expression of cell-cycle proteins in human oral epithelium
-
Bjarnason GA, Jordan RC, Sothern RB 1999 Circadian variation in the expression of cell-cycle proteins in human oral epithelium. Am J Pathol 154:613-622 (Pubitemid 29094110)
-
(1999)
American Journal of Pathology
, vol.154
, Issue.2
, pp. 613-622
-
-
Bjarnason, G.A.1
Jordan, R.C.K.2
Sothern, R.B.3
-
18
-
-
0035004799
-
Circadian expression of clock genes in human oral mucosa and skin: Association with specific cell-cycle phases
-
Bjarnason GA, Jordan RC, Wood PA, Li Q, Lincoln DW, Sothern RB, Hrushesky WJ, Ben-David Y 2001 Circadian expression of clock genes inhumanoral mucosa and skin: association with specific cell-cycle phases. Am J Pathol 158:1793-1801 (Pubitemid 32422944)
-
(2001)
American Journal of Pathology
, vol.158
, Issue.5
, pp. 1793-1801
-
-
Bjarnason, G.A.1
Jordan, R.C.K.2
Wood, P.A.3
Li, Q.4
Lincoln, D.W.5
Sothern, R.B.6
Hrushesky, W.J.M.7
Ben-David, Y.8
-
19
-
-
33644810692
-
Evening exposure to blue light stimulates the expression of the clock gene PER2 in humans
-
DOI 10.1111/j.1460-9568.2006.04613.x
-
Cajochen C, Jud C, Münch M, Kobialka S, Wirz-Justice A, Albrecht U 2006 Evening exposure to blue light stimulates the expression of the clock gene PER2 in humans. Eur J Neurosci 23:1082-1086 (Pubitemid 43348550)
-
(2006)
European Journal of Neuroscience
, vol.23
, Issue.4
, pp. 1082-1086
-
-
Cajochen, C.1
Jud, C.2
Munch, M.3
Kobialka, S.4
Wirz-Justice, A.5
Albrecht, U.6
-
20
-
-
26444526305
-
Transcriptional oscillation of canonical clock genes in mouse peripheral tissues
-
Yamamoto T, Nakahata Y, Soma H, Akashi M, Mamine T, Takumi T 2004 Transcriptional oscillation of canonical clock genes in mouse peripheral tissues. BMC Mol Biol 5:18
-
(2004)
BMC Mol Biol
, vol.5
, pp. 18
-
-
Yamamoto, T.1
Nakahata, Y.2
Soma, H.3
Akashi, M.4
Mamine, T.5
Takumi, T.6
-
22
-
-
79953658902
-
Hepatic, duodenal, and colonic circadian clocks differ in their persistence under conditions of constant light and in their entrainment by restricted feeding
-
Polidarová L, Sládek M, Soták M, Pácha J, Sumová A 2011 Hepatic, duodenal, and colonic circadian clocks differ in their persistence under conditions of constant light and in their entrainment by restricted feeding. Chronobiol Int 28:204-215
-
(2011)
Chronobiol Int
, vol.28
, pp. 204-215
-
-
Polidarová, L.1
Sládek, M.2
Soták, M.3
Pácha, J.4
Sumová, A.5
-
23
-
-
33846944676
-
System-driven and oscillator-dependent circadian transcription in mice with a conditionally active liver clock
-
Kornmann B, Schaad O, Bujard H, Takahashi JS, Schibler U 2007 System-driven and oscillator-dependent circadian transcription in mice with a conditionally active liver clock. PLoS Biol 5:e34
-
(2007)
PLoS Biol
, vol.5
-
-
Kornmann, B.1
Schaad, O.2
Bujard, H.3
Takahashi, J.S.4
Schibler, U.5
|