-
1
-
-
4544268599
-
Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: The role of pigmentary genes
-
Taibjee SM, Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes. Br J Dermatol 2004; 151:269-282. This is a comprehensive and thoughtful review of the pathogenesis of mosaic diseases of pigmentation, with particular attention to the association between pigmentary loci and chromosomal defects in patterned dyspigmentation.
-
(2004)
Br J Dermatol
, vol.151
, pp. 269-282
-
-
Taibjee, S.M.1
Moss, C.2
-
3
-
-
7444247798
-
Genetics of pigmentary disorders
-
Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet 2004;131C:75-81.
-
(2004)
Am J Med Genet
, vol.131 C
, pp. 75-81
-
-
Tomita, Y.1
Suzuki, T.2
-
4
-
-
13644260560
-
Genetic disorders of pigmentation
-
Passeron T, Mantoux F, Ortonne JP. Genetic disorders of pigmentation. Clin Dermatol 2005; 23:56-67. This is a concise review of inherited conditions in humans with hypopigmentation and hyperpigmentation.
-
(2005)
Clin Dermatol
, vol.23
, pp. 56-67
-
-
Passeron, T.1
Mantoux, F.2
Ortonne, J.P.3
-
6
-
-
0036789093
-
Mechanism and consequences of somatic mosaicism in humans
-
Youssoufian H, Pyeritz RE. Mechanism and consequences of somatic mosaicism in humans. Nat Rev Genet 2002; 3:748-758.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 748-758
-
-
Youssoufian, H.1
Pyeritz, R.E.2
-
7
-
-
85047694384
-
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept
-
Poblete-Gutierrez P, Wiederholt T, Konig A, et al. Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest 2004; 114:1467-1474. This is a molecular demonstration that a mosaic presentation of an erosive skin condition, Hailey-Hailey disease, is due to loss of a paternal allele in keratinocytes, presumably by way of mitotic recombination.
-
(2004)
J Clin Invest
, vol.114
, pp. 1467-1474
-
-
Poblete-Gutierrez, P.1
Wiederholt, T.2
Konig, A.3
-
8
-
-
9244263076
-
Aneuploidy and cancer
-
Rajagopalan H, Lengauer C. Aneuploidy and cancer. Nature 2004; 432:338-341.
-
(2004)
Nature
, vol.432
, pp. 338-341
-
-
Rajagopalan, H.1
Lengauer, C.2
-
9
-
-
0033535478
-
X-chromosome inactivation
-
Lyon MF. X-chromosome inactivation. Curr Biol 1999; 9:235-237.
-
(1999)
Curr Biol
, vol.9
, pp. 235-237
-
-
Lyon, M.F.1
-
10
-
-
7144223296
-
Gene action in the X chromosome of the mouse (Mus musculus L.)
-
Lyon MF. Gene action in the X chromosome of the mouse (Mus musculus L.). Naturwissenschaften 1961; 190:372-373.
-
(1961)
Naturwissenschaften
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
11
-
-
0036171992
-
Transposable elements and the lines of Blaschko: A new perspective
-
Happle R. Transposable elements and the lines of Blaschko: a new perspective. Dermatology 2002; 204:4-7.
-
(2002)
Dermatology
, vol.204
, pp. 4-7
-
-
Happle, R.1
-
12
-
-
0035065510
-
Retrotransposons as epigenetic mediators of phenotypic variation in mammals
-
Whitelaw E, Martin DIK. Retrotransposons as epigenetic mediators of phenotypic variation in mammals. Nat Genet 2001; 27:361-364.
-
(2001)
Nat Genet
, vol.27
, pp. 361-364
-
-
Whitelaw, E.1
Martin, D.I.K.2
-
14
-
-
3442890774
-
Epigenetics and human disease
-
Jiang YH, Bressler J, Beaudet AL. Epigenetics and human disease. Annu Rev Genomics Hum Genet 2004; 5:479-510. This excellent treatise summarizes the evidence for epigenetic contributions to gene expression in humans.
-
(2004)
Annu Rev Genomics Hum Genet
, vol.5
, pp. 479-510
-
-
Jiang, Y.H.1
Bressler, J.2
Beaudet, A.L.3
-
15
-
-
0019130148
-
Pigment anomalies of the skin in human chimaera: Their relation to systematized naevi
-
Findlay GH, Moores PP. Pigment anomalies of the skin in human chimaera: their relation to systematized naevi. Br J Dermatol 1980; 103:489-498.
-
(1980)
Br J Dermatol
, vol.103
, pp. 489-498
-
-
Findlay, G.H.1
Moores, P.P.2
-
16
-
-
1642452814
-
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex
-
Smith FJ, Morley SM, McLean WH. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 2004; 122:73-77.
-
(2004)
J Invest Dermatol
, vol.122
, pp. 73-77
-
-
Smith, F.J.1
Morley, S.M.2
McLean, W.H.3
-
17
-
-
0142209189
-
In vivo reversion to normal of inherited mutations in humans
-
Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J Med Genet 2003; 40:721-728.
-
(2003)
J Med Genet
, vol.40
, pp. 721-728
-
-
Hirschhorn, R.1
-
19
-
-
0027452134
-
Mosaicism in human skin: Understanding the pattern and mechanisms
-
Happle R. Mosaicism in human skin: understanding the pattern and mechanisms. Arch Dermatol 1993; 129:1460-1470.
-
(1993)
Arch Dermatol
, vol.129
, pp. 1460-1470
-
-
Happle, R.1
-
21
-
-
0038118323
-
Development of melanocyte precursors from the vertebrate neural crest
-
Dupin E, Le Douarin NM. Development of melanocyte precursors from the vertebrate neural crest. Oncogene 2003; 22:3016-3023.
-
(2003)
Oncogene
, vol.22
, pp. 3016-3023
-
-
Dupin, E.1
Le Douarin, N.M.2
-
22
-
-
0032808274
-
Cytogenetic and molecular evidence for cutaneous mosaicism: The ectodermal origin of Blaschko lines
-
Moss C. Cytogenetic and molecular evidence for cutaneous mosaicism: the ectodermal origin of Blaschko lines. Am J Med Genet 1999; 85:330-333.
-
(1999)
Am J Med Genet
, vol.85
, pp. 330-333
-
-
Moss, C.1
-
23
-
-
0028135470
-
Genetic and clinical mosaicism in a type of epidermal nevus
-
Paller AS, Syder AJ, Chan Y-M, et al. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 1994; 331:1408-1415.
-
(1994)
N Engl J Med
, vol.331
, pp. 1408-1415
-
-
Paller, A.S.1
Syder, A.J.2
Chan, Y.-M.3
-
24
-
-
0028897712
-
Birthmark due to cutaneous mosaicism for keratin 10 mutation
-
Moss C. Birthmark due to cutaneous mosaicism for keratin 10 mutation. Lancet 1995; 345:596.
-
(1995)
Lancet
, vol.345
, pp. 596
-
-
Moss, C.1
-
25
-
-
0027200119
-
Pigmentary patterns associated with human mosaicism: A proposed classification
-
Happle R. Pigmentary patterns associated with human mosaicism: a proposed classification. Eur J Dermatol 1993; 3:170-174.
-
(1993)
Eur J Dermatol
, vol.3
, pp. 170-174
-
-
Happle, R.1
-
26
-
-
0035130253
-
Phylloid hypomelanosis and mosaic trisomy 13: A new etiologically defined neurocutaneous syndrome
-
Happle R. Phylloid hypomelanosis and mosaic trisomy 13: a new etiologically defined neurocutaneous syndrome. Hautarzt 2001; 52:3-5.
-
(2001)
Hautarzt
, vol.52
, pp. 3-5
-
-
Happle, R.1
-
27
-
-
0035863597
-
Phylloid pattern of pigmentary disturbance in a case of complex mosaicism
-
Rebiero Noce T, de Pina-Neto JM, Happle R. Phylloid pattern of pigmentary disturbance in a case of complex mosaicism. Am J Med Genet 2001; 98: 145-147.
-
(2001)
Am J Med Genet
, vol.98
, pp. 145-147
-
-
Rebiero Noce, T.1
De Pina-Neto, J.M.2
Happle, R.3
-
28
-
-
0033767860
-
Phylloid hypomelanosis is closely related to mosaic trisomy 13
-
Happle R. Phylloid hypomelanosis is closely related to mosaic trisomy 13. Eur J Dermatol 2000; 10:511-512.
-
(2000)
Eur J Dermatol
, vol.10
, pp. 511-512
-
-
Happle, R.1
-
29
-
-
0041411160
-
Pigmentary mosaicism with mosaic chromosome 5p tetrasomy
-
Hansen LK, Brandrup F, Rasmussen K. Pigmentary mosaicism with mosaic chromosome 5p tetrasomy. Br J Dermatol 2003; 149:414-416.
-
(2003)
Br J Dermatol
, vol.149
, pp. 414-416
-
-
Hansen, L.K.1
Brandrup, F.2
Rasmussen, K.3
-
30
-
-
0003076242
-
Studies on melanin XI. Incontinentia pigmenti achromians: A singular case of nevus depigmentosus systematicus bilateralis
-
Ito M. Studies on melanin XI. Incontinentia pigmenti achromians: a singular case of nevus depigmentosus systematicus bilateralis. Tohoku J Exp Med 1952; 55:57-59.
-
(1952)
Tohoku J Exp Med
, vol.55
, pp. 57-59
-
-
Ito, M.1
-
31
-
-
0028053991
-
Hypomelanosis of Ito: A description, not a diagnosis
-
Sybert VP. Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol 1994; 103:1418-1438.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 1418-1438
-
-
Sybert, V.P.1
-
32
-
-
0026528367
-
Hypomelanosis of Ito: Diagnostic criteria and report of 41 cases
-
Ruiz-Maldonado R, Toussaint S, Tamayo L, et al. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases. Pediatr Dermatol 1992; 9:1-10.
-
(1992)
Pediatr Dermatol
, vol.9
, pp. 1-10
-
-
Ruiz-Maldonado, R.1
Toussaint, S.2
Tamayo, L.3
-
33
-
-
0029854056
-
Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko
-
Nehal KS, Pebenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol 1996; 132:1167-1170.
-
(1996)
Arch Dermatol
, vol.132
, pp. 1167-1170
-
-
Nehal, K.S.1
Pebenito, R.2
Orlow, S.J.3
-
34
-
-
0003612860
-
-
New York: Oxford University Press
-
Sybert VP. Genetic skin disorders. New York: Oxford University Press; 1997. pp. 318-321.
-
(1997)
Genetic Skin Disorders
, pp. 318-321
-
-
Sybert, V.P.1
-
35
-
-
0033006378
-
Nevus depigmentosus: Clinical features and histopathologic characteristics in 67 patients
-
Lee HS, Chun YS, Hann SK. Nevus depigmentosus: clinical features and histopathologic characteristics in 67 patients. J Am Acad Dermatol 1999; 40:21-26.
-
(1999)
J Am Acad Dermatol
, vol.40
, pp. 21-26
-
-
Lee, H.S.1
Chun, Y.S.2
Hann, S.K.3
-
36
-
-
0032719622
-
Segmental nevus depigmentosus: Analysis of 20 patients
-
Di Lernia V. Segmental nevus depigmentosus: analysis of 20 patients. Pediatr Dermatol 1999; 16:349-353.
-
(1999)
Pediatr Dermatol
, vol.16
, pp. 349-353
-
-
Di Lernia, V.1
-
37
-
-
1342269134
-
Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions
-
Alrobaee AA, Alsaif F. Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions. Int J Dermatol 2004; 43:145-147.
-
(2004)
Int J Dermatol
, vol.43
, pp. 145-147
-
-
Alrobaee, A.A.1
Alsaif, F.2
-
38
-
-
10644233001
-
Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis
-
Hartmann A, Hofmann UB, Hoehn H, et al. Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis. Pediatr Dermatol 2004; 21:636-641.
-
(2004)
Pediatr Dermatol
, vol.21
, pp. 636-641
-
-
Hartmann, A.1
Hofmann, U.B.2
Hoehn, H.3
-
39
-
-
0035205331
-
Survival of male patients with IP carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
-
Kenwrick S, Woffendin H, Jakins T, et al. Survival of male patients with IP carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 2001; 69:1210-1217.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1210-1217
-
-
Kenwrick, S.1
Woffendin, H.2
Jakins, T.3
-
40
-
-
0036696739
-
Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology
-
Berlin A, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002; 47:169-187.
-
(2002)
J Am Acad Dermatol
, vol.47
, pp. 169-187
-
-
Berlin, A.1
Paller, A.S.2
Chan, L.S.3
-
41
-
-
0028336004
-
Melanotic macules following Blaschko's lines in McCune-Albright syndrome
-
Rieger E, Kofler R, Borkensstein M, et al. Melanotic macules following Blaschko's lines in McCune-Albright syndrome. Br J Dermatol 1994; 130:215-220.
-
(1994)
Br J Dermatol
, vol.130
, pp. 215-220
-
-
Rieger, E.1
Kofler, R.2
Borkensstein, M.3
-
42
-
-
0029778906
-
Clinical implications of genetic defects in G proteins: The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy
-
Ringel MD, Schwindinger WF, Levine MA. Clinical implications of genetic defects in G proteins: the molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine 1996; 75:171-184.
-
(1996)
Medicine
, vol.75
, pp. 171-184
-
-
Ringel, M.D.1
Schwindinger, W.F.2
Levine, M.A.3
-
43
-
-
6944254404
-
Cyclic AMP promotes a peripheral distribution of melanosomes and stimulates melanophilin/Slac2alpha and acting association
-
Passeron T, Bahadoran T, Bertolotto C. Cyclic AMP promotes a peripheral distribution of melanosomes and stimulates melanophilin/Slac2alpha and acting association. FASEB 2004; 18:989-991.
-
(2004)
FASEB
, vol.18
, pp. 989-991
-
-
Passeron, T.1
Bahadoran, T.2
Bertolotto, C.3
-
44
-
-
0034127724
-
Cyclic AMP a key messenger in the regulation of skin pigmentation
-
Busca R, Balotti R. Cyclic AMP a key messenger in the regulation of skin pigmentation. Pigment Cell Res 2000; 13:60-69.
-
(2000)
Pigment Cell Res
, vol.13
, pp. 60-69
-
-
Busca, R.1
Balotti, R.2
-
45
-
-
4444258913
-
Effects of G protein mutations on skin color
-
Van Raamsdonk CD, Fitch KR, Fuchs H, et al. Effects of G protein mutations on skin color. Nat Genet 2004; 36:961-968. A large-scale mutagenic screen in mice uncovers new mutations in G proteins that contribute to pigment variegation of skin and hair, furthering our understanding of signal pathways that affect melanocytic development.
-
(2004)
Nat Genet
, vol.36
, pp. 961-968
-
-
Van Raamsdonk, C.D.1
Fitch, K.R.2
Fuchs, H.3
-
46
-
-
0023816813
-
Hypomelanosis of Ito: A manifestation of mosaicism or chimerism
-
Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet 1988; 25:809-818.
-
(1988)
J Med Genet
, vol.25
, pp. 809-818
-
-
Donnai, D.1
Read, A.P.2
McKeown, C.3
Andrews, T.4
-
47
-
-
0024419361
-
Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism
-
Thomas IT, Frias JL, Cantu ES, et al. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet 1989; 45:193-205.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 193-205
-
-
Thomas, I.T.1
Frias, J.L.2
Cantu, E.S.3
-
48
-
-
0025278925
-
Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito
-
Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr 1990; 116:581-586.
-
(1990)
J Pediatr
, vol.116
, pp. 581-586
-
-
Sybert, V.P.1
Pagon, R.A.2
Donlan, M.3
Bradley, C.M.4
|