-
1
-
-
84899490623
-
-
Orphanet Report Series. Prevalence of rare diseases: Bibliographic data., fromAccessed February 20, 2013.
-
Orphanet Report Series. Prevalence of rare diseases: Bibliographic data. 2012, from http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf. Accessed February 20, 2013.
-
(2012)
-
-
-
2
-
-
84899486394
-
-
Incontinentia pigmenti (Bloch-Sulzberger syndrome). University of Washington, Seattle (WA): GeneReviews, fromAccessed February 20 2013.
-
Scheuerle A, Ursini MV. Incontinentia pigmenti (Bloch-Sulzberger syndrome). University of Washington, Seattle (WA): GeneReviews 2008, from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=i-p. Accessed February 20 2013.
-
(2008)
-
-
Scheuerle, A.1
Ursini, M.V.2
-
3
-
-
0027403249
-
Incontinentia pigmenti (Bloch-Sulzberger syndrome)
-
DOI: 10.1136/jmg.30.1.53.
-
Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993: 30: 53-59. DOI: 10.1136/jmg.30.1.53.
-
(1993)
J Med Genet
, vol.30
, pp. 53-59
-
-
Landy, S.J.1
Donnai, D.2
-
4
-
-
84874062548
-
Central nervous system anomalies in incontinentia pigmenti
-
DOI: 10.1186/1750-1172-8-25.
-
Minić S, Trpinac D, Obradović M. Central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis 2013: 8: 25. DOI: 10.1186/1750-1172-8-25.
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 25
-
-
Minić, S.1
Trpinac, D.2
Obradović, M.3
-
5
-
-
0034713270
-
Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
-
DOI: 10.1038/35013114.
-
Smahi A, Courtois G, Vabres P et al. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000: 405: 466-472. DOI: 10.1038/35013114.
-
(2000)
Nature
, vol.405
, pp. 466-472
-
-
Smahi, A.1
Courtois, G.2
Vabres, P.3
-
6
-
-
0034729346
-
It's got you covered: NF-κB in the epidermis
-
DOI: 10.1083/jcb.149.5.999.
-
Kaufman CK, Fuchs E. It's got you covered: NF-κB in the epidermis. J Cell Biol 2000: 149: 999-1004. DOI: 10.1083/jcb.149.5.999.
-
(2000)
J Cell Biol
, vol.149
, pp. 999-1004
-
-
Kaufman, C.K.1
Fuchs, E.2
-
7
-
-
84871938459
-
Dental and oral anomalies in incontinentia pigmenti: a systematic review
-
DOI: 10.1007/s00784-012-0721-5.
-
Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Dental and oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Invest 2013: 17: 1-8. DOI: 10.1007/s00784-012-0721-5.
-
(2013)
Clin Oral Invest
, vol.17
, pp. 1-8
-
-
Minić, S.1
Trpinac, D.2
Gabriel, H.3
Gencik, M.4
Obradović, M.5
-
8
-
-
84879422774
-
Clinical utility gene card for: incontinentia pigmenti
-
DOI: 10.1038/ejhg.2012.227.
-
Fusco F, Pescatore A, Steffan J, Royer G, Bonnefont JP, Ursini MV. Clinical utility gene card for: incontinentia pigmenti. Eur J Hum Genet 2013: 21. DOI: 10.1038/ejhg.2012.227.
-
(2013)
Eur J Hum Genet
, vol.21
-
-
Fusco, F.1
Pescatore, A.2
Steffan, J.3
Royer, G.4
Bonnefont, J.P.5
Ursini, M.V.6
-
9
-
-
33751516321
-
Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities
-
DOI: 10.1007/s00784-006-0066-z.
-
Minić S, Novotny GEK, Trpinac D, Obradović M. Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities. Clin Oral Invest 2006: 10: 343-347. DOI: 10.1007/s00784-006-0066-z.
-
(2006)
Clin Oral Invest
, vol.10
, pp. 343-347
-
-
Minić, S.1
Novotny, G.E.K.2
Trpinac, D.3
Obradović, M.4
-
10
-
-
79951581828
-
Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations
-
DOI: 10.1016/j.jaad.2010.01.045.
-
Hadj-Rabia S, Rimella A, Smahi A et al. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations. J Am Acad Dermatol 2011: 64: 508-515. DOI: 10.1016/j.jaad.2010.01.045.
-
(2011)
J Am Acad Dermatol
, vol.64
, pp. 508-515
-
-
Hadj-Rabia, S.1
Rimella, A.2
Smahi, A.3
-
11
-
-
84899486316
-
Incontinentia Pigmenti
-
In: Cassidy S, Allanson JE, eds., 2nd edn. Hoboken, NJ: Wiley-Liss
-
Donnai D. Incontinentia Pigmenti. In: Cassidy S, Allanson JE, eds. Management of genetic syndromes, 2nd edn. Hoboken, NJ: Wiley-Liss, 2005: 309-314.
-
(2005)
Management of genetic syndromes
, pp. 309-314
-
-
Donnai, D.1
-
12
-
-
0141708025
-
Clinical study of 40 cases of incontinentia pigmenti
-
DOI: 10.1001/archderm.139.9.1163.
-
Hadj-Rabia S, Froidevaux D, Bodak N et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003: 139: 1163-1170. DOI: 10.1001/archderm.139.9.1163.
-
(2003)
Arch Dermatol
, vol.139
, pp. 1163-1170
-
-
Hadj-Rabia, S.1
Froidevaux, D.2
Bodak, N.3
-
13
-
-
68549111121
-
Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies
-
DOI: 10.1111/j.1600-0560.2009.01206.x.
-
Fraitag S, Rimella A, de Prost Y, Brousse N, Hadj-Rabia S, Bodemer C. Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies. J Cutan Pathol 2009: 36: 966-971. DOI: 10.1111/j.1600-0560.2009.01206.x.
-
(2009)
J Cutan Pathol
, vol.36
, pp. 966-971
-
-
Fraitag, S.1
Rimella, A.2
de Prost, Y.3
Brousse, N.4
Hadj-Rabia, S.5
Bodemer, C.6
-
14
-
-
0036696739
-
Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology
-
DOI: 10.1067/mjd.2002.125949.
-
Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002: 47: 169-187. DOI: 10.1067/mjd.2002.125949.
-
(2002)
J Am Acad Dermatol
, vol.47
, pp. 169-187
-
-
Berlin, A.L.1
Paller, A.S.2
Chan, L.S.3
-
16
-
-
84899480562
-
-
American College of Medical Genetics Annual Meeting: Nashville, TN
-
Badgwell AL, Iglesias AD, Emmerich S, Willner JP. The natural history of incontinentia pigmenti as reported by 198 affected individuals. Abstract 38. American College of Medical Genetics Annual Meeting: Nashville, TN, 2007.
-
(2007)
The natural history of incontinentia pigmenti as reported by 198 affected individuals. Abstract 38
-
-
Badgwell, A.L.1
Iglesias, A.D.2
Emmerich, S.3
Willner, J.P.4
-
17
-
-
77953642098
-
Delayed onychodystrophy of incontinentia pigmenti: an evidence-based review of epidemiology, diagnosis and management
-
Chun BS, Rashid R. Delayed onychodystrophy of incontinentia pigmenti: an evidence-based review of epidemiology, diagnosis and management. J Drugs Dermatol 2010: 9: 350-354.
-
(2010)
J Drugs Dermatol
, vol.9
, pp. 350-354
-
-
Chun, B.S.1
Rashid, R.2
-
18
-
-
0017260992
-
Incontinentia pigmenti: a world statistical analysis
-
DOI: 10.1001/archderm.1976.01630280059017.
-
Carney RG. Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 1976: 112: 535-542. DOI: 10.1001/archderm.1976.01630280059017.
-
(1976)
Arch Dermatol
, vol.112
, pp. 535-542
-
-
Carney, R.G.1
-
19
-
-
84899481795
-
Breasts
-
In: Stevenson RE, Hall JG, eds., 2nd edn. New York, NY: Oxford University Press
-
Boyd E, Stevenson RE. Breasts. In: Stevenson RE, Hall JG, eds. Human malformations and related anomalies, 2nd edn. New York, NY: Oxford University Press, 2006: 1049-1064.
-
(2006)
Human malformations and related anomalies
, pp. 1049-1064
-
-
Boyd, E.1
Stevenson, R.E.2
-
20
-
-
4444311888
-
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation
-
DOI: 10.1093/hmg/ddh192.
-
Fusco F, Bardaro T, Fimiani G et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation. Hum Mol Genet 2004: 13: 1763-1773. DOI: 10.1093/hmg/ddh192.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1763-1773
-
-
Fusco, F.1
Bardaro, T.2
Fimiani, G.3
-
21
-
-
23044439779
-
Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives
-
DOI: 10.1111/j.1365-2230.2005.01848.x.
-
Phan TA, Wargon O, Turner AM. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol 2005: 30: 474-480. DOI: 10.1111/j.1365-2230.2005.01848.x.
-
(2005)
Clin Exp Dermatol
, vol.30
, pp. 474-480
-
-
Phan, T.A.1
Wargon, O.2
Turner, A.M.3
-
22
-
-
0037149653
-
Incontinentia pigmenti-a rare disease with many symptoms
-
Holmström G, Bergendal B, Hallberg G, Marcus S, Hallén A, Dahl N. Incontinentia pigmenti-a rare disease with many symptoms. Lakartidningen 2002: 99: 1345-1350.
-
(2002)
Lakartidningen
, vol.99
, pp. 1345-1350
-
-
Holmström, G.1
Bergendal, B.2
Hallberg, G.3
Marcus, S.4
Hallén, A.5
Dahl, N.6
-
23
-
-
2942627948
-
The skin is not the predominant problem in incontinentia pigmenti
-
DOI: 10.1001/archderm.140.6.748.
-
Goldberg MF. The skin is not the predominant problem in incontinentia pigmenti. Arch Dermatol 2004: 140: 748-750. DOI: 10.1001/archderm.140.6.748.
-
(2004)
Arch Dermatol
, vol.140
, pp. 748-750
-
-
Goldberg, M.F.1
-
24
-
-
0034112417
-
Ocular manifestations of incontinentia pigmenti
-
DOI: 10.1034/j.1600-0420.2000.078003348.x.
-
Holmström G, Thorén K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand 2000: 78: 348-353. DOI: 10.1034/j.1600-0420.2000.078003348.x.
-
(2000)
Acta Ophthalmol Scand
, vol.78
, pp. 348-353
-
-
Holmström, G.1
Thorén, K.2
-
25
-
-
33745232739
-
Incontinentia pigmenti: clinical observation of 40 Korean cases
-
DOI: 10.3346/jkms.2006.21.3.474.
-
Kim BJ, Shin HS, Won CH et al. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006: 21: 474-477. DOI: 10.3346/jkms.2006.21.3.474.
-
(2006)
J Korean Med Sci
, vol.21
, pp. 474-477
-
-
Kim, B.J.1
Shin, H.S.2
Won, C.H.3
-
27
-
-
77958114477
-
Ocular anomalies in incontinentia pigmenti-literature review and meta-analysis
-
DOI: 10.2298/SARH1008408M.
-
Minić S, Obradović M, Kovačević I, Trpinac D. Ocular anomalies in incontinentia pigmenti-literature review and meta-analysis. Srp Arh Celok Lek 2010: 138: 408-413. DOI: 10.2298/SARH1008408M.
-
(2010)
Srp Arh Celok Lek
, vol.138
, pp. 408-413
-
-
Minić, S.1
Obradović, M.2
Kovačević, I.3
Trpinac, D.4
-
28
-
-
0041335372
-
Retinal tears occurring at the border of vascular and avascular retina in adult patients with incontinentia pigmenti
-
Equi R, Bains HS, Jampol LM, Goldberg MF. Retinal tears occurring at the border of vascular and avascular retina in adult patients with incontinentia pigmenti. Retina 2003: 23: 574-576.
-
(2003)
Retina
, vol.23
, pp. 574-576
-
-
Equi, R.1
Bains, H.S.2
Jampol, L.M.3
Goldberg, M.F.4
-
29
-
-
0031883628
-
Spontaneous retinal reattachment in incontinentia pigmenti
-
Fekrat S, Humayun MS, Goldberg MF. Spontaneous retinal reattachment in incontinentia pigmenti. Retina 1998: 18: 75-77.
-
(1998)
Retina
, vol.18
, pp. 75-77
-
-
Fekrat, S.1
Humayun, M.S.2
Goldberg, M.F.3
-
30
-
-
0027449090
-
Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)
-
DOI: 10.1016/S0161-6420(93)31422-3.
-
Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology 1993: 100: 1645-1654. DOI: 10.1016/S0161-6420(93)31422-3.
-
(1993)
Ophthalmology
, vol.100
, pp. 1645-1654
-
-
Goldberg, M.F.1
Custis, P.H.2
-
31
-
-
84899493916
-
The Special Senses
-
In: Keeling JS, Yee Khong T, eds., 4th edn. London: Springer-Verlag
-
Yee KT. The Special Senses. In: Keeling JS, Yee Khong T, eds. Fetal and neonatal pathology, 4th edn. London: Springer-Verlag, 2007: 825-850.
-
(2007)
Fetal and neonatal pathology
, pp. 825-850
-
-
Yee, K.T.1
-
32
-
-
32544458799
-
Improved national prevalence estimates for 18 selected major birth defects-United States, 1999-2001
-
Centers for Disease Control and Prevention (CDC)
-
Centers for Disease Control and Prevention (CDC). Improved national prevalence estimates for 18 selected major birth defects-United States, 1999-2001. MMWR Morb Mortal Wkly Rep 2006: 54: 1301-1305.
-
(2006)
MMWR Morb Mortal Wkly Rep
, vol.54
, pp. 1301-1305
-
-
-
33
-
-
85026696665
-
Eye
-
Stevenson RE, Hall JG, eds., 2nd edn. New York: Oxford University Press
-
Traboulsi EI. Eye. In: Stevenson RE, Hall JG, eds. Human malformations and related anomalies, 2nd edn. New York: Oxford University Press, 2006: 297-325.
-
(2006)
Human malformations and related anomalies
, pp. 297-325
-
-
Traboulsi, E.I.1
-
34
-
-
10644243538
-
X-linked mental retardation
-
DOI: 10.1038/nrg1501.
-
Ropers HH, Hamel BC. X-linked mental retardation. Nat Rev Genet 2005: 6: 46-57. DOI: 10.1038/nrg1501.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 46-57
-
-
Ropers, H.H.1
Hamel, B.C.2
-
35
-
-
84899484377
-
-
EUROCAT Prevalence Data Tables, fromAccessed on February 20, 2013.
-
EUROCAT Prevalence Data Tables, 2013 from http://www.eurocat-network.eu/prevdata/resultsPdf.aspx?title=B3&allanom=false&allregf=true&allrega=true&anomalies=8&winx=1256&winy=894. Accessed on February 20, 2013.
-
(2013)
-
-
-
36
-
-
33749656780
-
Epilepsy in North America: a report prepared under the auspices of the global campaign against epilepsy, the International Bureau for Epilepsy, the International League Against Epilepsy, and the World Health Organization
-
DOI: 10.1111/j.1528-1167.2006.00633.x.
-
Theodore WH, Spencer SS, Wiebe S et al. Epilepsy in North America: a report prepared under the auspices of the global campaign against epilepsy, the International Bureau for Epilepsy, the International League Against Epilepsy, and the World Health Organization. Epilepsia 2006: 47: 1700-1722. DOI: 10.1111/j.1528-1167.2006.00633.x.
-
(2006)
Epilepsia
, vol.47
, pp. 1700-1722
-
-
Theodore, W.H.1
Spencer, S.S.2
Wiebe, S.3
-
37
-
-
77950149292
-
"Idiopathic" mental retardation and new chromosomal abnormalities
-
DOI: 10.1186/1824-7288-36-17.
-
Galasso C, Lo-Castro A, El-Malhany N, Curatolo P. "Idiopathic" mental retardation and new chromosomal abnormalities. Ital J Pediatr 2010: 36: 17. DOI: 10.1186/1824-7288-36-17.
-
(2010)
Ital J Pediatr
, vol.36
, pp. 17
-
-
Galasso, C.1
Lo-Castro, A.2
El-Malhany, N.3
Curatolo, P.4
-
38
-
-
0036239371
-
Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti
-
DOI: 10.1046/j.1365-2249.2002.01755.x.
-
Jean-Baptiste S, O'Toole EA, Chen M, Guitart J, Paller A, Chan LS. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol 2002: 127: 470-478. DOI: 10.1046/j.1365-2249.2002.01755.x.
-
(2002)
Clin Exp Immunol
, vol.127
, pp. 470-478
-
-
Jean-Baptiste, S.1
O'Toole, E.A.2
Chen, M.3
Guitart, J.4
Paller, A.5
Chan, L.S.6
-
39
-
-
77955754106
-
Incontinentia pigmenti with ultrastructurally disordered leucocytes
-
DOI: 10.1136/jcp.2009.074203.
-
Minić S, Trpinac D, Obradović M, Novotny GE, Gabriel HD, Kuhn M. Incontinentia pigmenti with ultrastructurally disordered leucocytes. J Clin Pathol 2010: 63: 657-659. DOI: 10.1136/jcp.2009.074203.
-
(2010)
J Clin Pathol
, vol.63
, pp. 657-659
-
-
Minić, S.1
Trpinac, D.2
Obradović, M.3
Novotny, G.E.4
Gabriel, H.D.5
Kuhn, M.6
-
40
-
-
84857665369
-
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
-
DOI: 10.1093/hmg/ddr556.
-
Fusco F, Paciolla M, Napolitano F et al. Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet 2012: 21: 1260-1271. DOI: 10.1093/hmg/ddr556.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 1260-1271
-
-
Fusco, F.1
Paciolla, M.2
Napolitano, F.3
-
41
-
-
0035205331
-
Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
-
DOI: 10.1086/324591.
-
Kenwrick S, Woffendin H, Jakins T et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 2001: 69: 1210-1217. DOI: 10.1086/324591.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1210-1217
-
-
Kenwrick, S.1
Woffendin, H.2
Jakins, T.3
-
42
-
-
84886405332
-
Diagnostic and molecular genetic challenges in male incontinentia pigmenti: a case report
-
DOI: 10.2340/00015555-1593.
-
Gregersen PA, Sommerlund M, Ramsing M, Gjørup H, Rasmussen AA, Aggerholm A. Diagnostic and molecular genetic challenges in male incontinentia pigmenti: a case report. Acta Derm Venereol 2013. DOI: 10.2340/00015555-1593.
-
(2013)
Acta Derm Venereol
-
-
Gregersen, P.A.1
Sommerlund, M.2
Ramsing, M.3
Gjørup, H.4
Rasmussen, A.A.5
Aggerholm, A.6
-
43
-
-
42949154156
-
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
-
Epub ahead of print]. DOI: 10.1002/humu.20739.
-
Fusco F, Pescatore A, Bal E et al. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat 2008: 29: 595-604. [Epub ahead of print]. DOI: 10.1002/humu.20739.
-
(2008)
Hum Mutat
, vol.29
, pp. 595-604
-
-
Fusco, F.1
Pescatore, A.2
Bal, E.3
-
44
-
-
0029846444
-
Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2
-
DOI: 10.1093/hmg/5.11.1777.
-
Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL. Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2. Hum Mol Genet 1996: 5: 1777-1783. DOI: 10.1093/hmg/5.11.1777.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1777-1783
-
-
Parrish, J.E.1
Scheuerle, A.E.2
Lewis, R.A.3
Levy, M.L.4
Nelson, D.L.5
|