-
1
-
-
0034713270
-
Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of Incontinentia pigmenti: the international incontinentia pigmenti (IP) consortium
-
Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., et al. Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of Incontinentia pigmenti: the international incontinentia pigmenti (IP) consortium. Nature 2000, 405:466-472.
-
(2000)
Nature
, vol.405
, pp. 466-472
-
-
Smahi, A.1
Courtois, G.2
Vabres, P.3
Yamaoka, S.4
Heuertz, S.5
Munnich, A.6
-
2
-
-
0036771830
-
The NF-kappaB signaling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
-
Smahi A., Courtois G., Rabia S.H., Döffinger R., Bodemar C., Munnich A., et al. The NF-kappaB signaling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 2002, 11:2371-2375.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2371-2375
-
-
Smahi, A.1
Courtois, G.2
Rabia, S.H.3
Döffinger, R.4
Bodemar, C.5
Munnich, A.6
-
3
-
-
33749123112
-
NFκB and inflammation in genetic disease
-
Sebban H., Coutrois G. NFκB and inflammation in genetic disease. Biochem Pharmacol 2006, 72:1153-1160.
-
(2006)
Biochem Pharmacol
, vol.72
, pp. 1153-1160
-
-
Sebban, H.1
Coutrois, G.2
-
4
-
-
0025755406
-
Cerebral white matter lesions in a case of incontinentia pigmenti with infantile spasms, mental retardation and left hemiparesis (in Japanese)
-
Sasaki M., Hanaoka S., Suzuki H., Takashima S., Arima M. Cerebral white matter lesions in a case of incontinentia pigmenti with infantile spasms, mental retardation and left hemiparesis (in Japanese). No To Hattatsu 1991, 23:178-183.
-
(1991)
No To Hattatsu
, vol.23
, pp. 178-183
-
-
Sasaki, M.1
Hanaoka, S.2
Suzuki, H.3
Takashima, S.4
Arima, M.5
-
5
-
-
0142248341
-
Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti
-
Hennel S.J., Ekert P.G., Volpe J.J., Inder T.E. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003, 29:148-150.
-
(2003)
Pediatr Neurol
, vol.29
, pp. 148-150
-
-
Hennel, S.J.1
Ekert, P.G.2
Volpe, J.J.3
Inder, T.E.4
-
6
-
-
2442497220
-
Neonatal seizures in two sisters with incontinentia pigmenti
-
Pörksen G., Pfeiffer C., Hahn G., Poppe M., Friebel D., Kreuz F., et al. Neonatal seizures in two sisters with incontinentia pigmenti. Neuropediatrics 2004, 35:139-142.
-
(2004)
Neuropediatrics
, vol.35
, pp. 139-142
-
-
Pörksen, G.1
Pfeiffer, C.2
Hahn, G.3
Poppe, M.4
Friebel, D.5
Kreuz, F.6
-
7
-
-
32944481490
-
Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation
-
Wolf N.I., Krämer N., Harting I., Seitz A., Ebinger F., Pöschl J., et al. Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation. Am J Neuroradiol 2005, 26:1580-1582.
-
(2005)
Am J Neuroradiol
, vol.26
, pp. 1580-1582
-
-
Wolf, N.I.1
Krämer, N.2
Harting, I.3
Seitz, A.4
Ebinger, F.5
Pöschl, J.6
-
8
-
-
40249118744
-
Serial changes in white matter lesions in a neonate with incontinentia pigmenti
-
Lee J.H., Im S.A., Chun J.S. Serial changes in white matter lesions in a neonate with incontinentia pigmenti. Childs Nerv Syst 2008, 24:525-528.
-
(2008)
Childs Nerv Syst
, vol.24
, pp. 525-528
-
-
Lee, J.H.1
Im, S.A.2
Chun, J.S.3
-
9
-
-
48149106358
-
Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti
-
Kaczala G.W., Messer M.A., Poskitt K.J., Prendiville J.S., Gardiner J., Senger C. Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti. Eur J Pediatr 2008, 167:979-983.
-
(2008)
Eur J Pediatr
, vol.167
, pp. 979-983
-
-
Kaczala, G.W.1
Messer, M.A.2
Poskitt, K.J.3
Prendiville, J.S.4
Gardiner, J.5
Senger, C.6
-
10
-
-
41949110079
-
A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation
-
Loh N.R., Jadresic L.R., Whitelaw A. A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation. Acta Paediatr 2008, 97:379-381.
-
(2008)
Acta Paediatr
, vol.97
, pp. 379-381
-
-
Loh, N.R.1
Jadresic, L.R.2
Whitelaw, A.3
-
11
-
-
58849137594
-
Destructive encephalopathy in incontinentia pigmenti
-
Hart A.R., Edwards C., Mahajan J., Wood M.L., Griffiths P.D. Destructive encephalopathy in incontinentia pigmenti. Dev Med Child Neurol 2009, 51:162-163.
-
(2009)
Dev Med Child Neurol
, vol.51
, pp. 162-163
-
-
Hart, A.R.1
Edwards, C.2
Mahajan, J.3
Wood, M.L.4
Griffiths, P.D.5
-
12
-
-
0025032484
-
Destructive encephalopathy in incontinentia pigmenti: a primary disorder?
-
Shuper A., Bryan R.N., Singer H.S. Destructive encephalopathy in incontinentia pigmenti: a primary disorder?. Pediatr Neurol 1990, 6:137-140.
-
(1990)
Pediatr Neurol
, vol.6
, pp. 137-140
-
-
Shuper, A.1
Bryan, R.N.2
Singer, H.S.3
-
13
-
-
0028106649
-
Incontinentia pigmenti: MR demonstration of brain changes
-
Pascual-Castroviejo I., Roche M.C., Martinez Fernández V., Perez-Romero M., Escudero R.M., Garcia-Peñas J.J., et al. Incontinentia pigmenti: MR demonstration of brain changes. Am J Neuroradiol 1994, 15:1521-1527.
-
(1994)
Am J Neuroradiol
, vol.15
, pp. 1521-1527
-
-
Pascual-Castroviejo, I.1
Roche, M.C.2
Martinez Fernández, V.3
Perez-Romero, M.4
Escudero, R.M.5
Garcia-Peñas, J.J.6
-
14
-
-
0033783684
-
Disappearance of a white matter lesion in incontinentia pigmenti
-
Yoshikawa H., Uehara Y., Abe T., Oda Y. Disappearance of a white matter lesion in incontinentia pigmenti. Pediatr Neurol 2000, 23:364-367.
-
(2000)
Pediatr Neurol
, vol.23
, pp. 364-367
-
-
Yoshikawa, H.1
Uehara, Y.2
Abe, T.3
Oda, Y.4
-
15
-
-
0029062691
-
Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging
-
Lee A.G., Goldberg M.F., Gillard J.H., Barker P.B., Bryan R.N. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med 1995, 149:573-580.
-
(1995)
Arch Pediatr Adolesc Med
, vol.149
, pp. 573-580
-
-
Lee, A.G.1
Goldberg, M.F.2
Gillard, J.H.3
Barker, P.B.4
Bryan, R.N.5
-
16
-
-
0014278311
-
Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation
-
O'Doherty N.J., Norman R.M. Incontinentia pigmenti (Bloch-Sulzberger syndrome) with cerebral malformation. Dev Med Child Neurol 1968, 10:168-174.
-
(1968)
Dev Med Child Neurol
, vol.10
, pp. 168-174
-
-
O'Doherty, N.J.1
Norman, R.M.2
-
17
-
-
0027534431
-
Characteristic MR findings in a neonate with incontinentia pigmenti
-
Chatkupt S., Gozo A.O., Wolansky L.J., Sun S. Characteristic MR findings in a neonate with incontinentia pigmenti. Am J Radiol 1993, 160:372-374.
-
(1993)
Am J Radiol
, vol.160
, pp. 372-374
-
-
Chatkupt, S.1
Gozo, A.O.2
Wolansky, L.J.3
Sun, S.4
-
18
-
-
0017379062
-
Les lesions cerebrales de l'incontinentia pigmenti
-
Hauw J.J., Perie G., Bonnette J., Escourolle R. Les lesions cerebrales de l'incontinentia pigmenti. Acta Neuropathol (Berl) 1977, 38:159-162.
-
(1977)
Acta Neuropathol (Berl)
, vol.38
, pp. 159-162
-
-
Hauw, J.J.1
Perie, G.2
Bonnette, J.3
Escourolle, R.4
-
19
-
-
0017814373
-
Encephalitis in two members of a family with incontinentia pigmenti (Bloch-Sulzberger syndrome)
-
Siemes H., Schneider H., Dening D., Hanefeld F. Encephalitis in two members of a family with incontinentia pigmenti (Bloch-Sulzberger syndrome). Eur J Pediatr 1978, 129:103-115.
-
(1978)
Eur J Pediatr
, vol.129
, pp. 103-115
-
-
Siemes, H.1
Schneider, H.2
Dening, D.3
Hanefeld, F.4
-
20
-
-
0037142027
-
TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2
-
Pasparakis M., Courtois G., Hafner M., Schmidt-Supprian M., Nenci A., Toksoy A., et al. TNF-mediated inflammatory skin disease in mice with epidermis-specific deletion of IKK2. Nature 2002, 417:861-866.
-
(2002)
Nature
, vol.417
, pp. 861-866
-
-
Pasparakis, M.1
Courtois, G.2
Hafner, M.3
Schmidt-Supprian, M.4
Nenci, A.5
Toksoy, A.6
-
21
-
-
32144450234
-
Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO-deficiency in epidermal keratinocytes and requires TNF signaling
-
Nenci A., Huth M., Funteh A., Schmidt-Supprian M., Bloch W., Metzger D., et al. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO-deficiency in epidermal keratinocytes and requires TNF signaling. Hum Mol Genet 2006, 15:531-542.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 531-542
-
-
Nenci, A.1
Huth, M.2
Funteh, A.3
Schmidt-Supprian, M.4
Bloch, W.5
Metzger, D.6
-
22
-
-
65549170020
-
Recurrent stroke in a child with incontinentia pigmenti
-
Cartwright M.S., White D.L., Miller L.M., Roach E.S. Recurrent stroke in a child with incontinentia pigmenti. J Child Neurol 2009, 24:603-605.
-
(2009)
J Child Neurol
, vol.24
, pp. 603-605
-
-
Cartwright, M.S.1
White, D.L.2
Miller, L.M.3
Roach, E.S.4
-
23
-
-
0023253986
-
Recurrent encephalomyelitis associated with incontinentia pigmenti
-
Brunquell P.J. Recurrent encephalomyelitis associated with incontinentia pigmenti. Pediatr Neurol 1987, 3:174-177.
-
(1987)
Pediatr Neurol
, vol.3
, pp. 174-177
-
-
Brunquell, P.J.1
-
24
-
-
2442465098
-
Central nervous system involvement in Incontinentia pigmenti: cranial MRI of two siblings
-
Aydingöz Ü., Midia M. Central nervous system involvement in Incontinentia pigmenti: cranial MRI of two siblings. Neuroradiology 1998, 40:364-366.
-
(1998)
Neuroradiology
, vol.40
, pp. 364-366
-
-
Aydingöz, Ü.1
Midia, M.2
|