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1
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0027403249
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Incontinentia pigmenti (Bloch Sulzberger syndrome)
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Landy SJ, Donnai D. Incontinentia pigmenti (Bloch Sulzberger syndrome). J Med Genet 1993: 30: 53-59.
-
(1993)
J Med Genet
, vol.30
, pp. 53-59
-
-
Landy, S.J.1
Donnai, D.2
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2
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0024651107
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The gene for incontinentia pigmenti is assigned to Xq28
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Sefiani A, Abel L, Heuertz S, Sinnett D, Lavergne L, Labuda D, Hors-Cayla MC. The gene for incontinentia pigmenti is assigned to Xq28. Genomics 1989: 4: 427-429.
-
(1989)
Genomics
, vol.4
, pp. 427-429
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-
Sefiani, A.1
Abel, L.2
Heuertz, S.3
Sinnett, D.4
Lavergne, L.5
Labuda, D.6
Hors-Cayla, M.C.7
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3
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0026063809
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Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers
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Sefiani A, M'rad R, Simard L, Vincent A, Julier C, Holvoet-Vermaut L, Heuertz S, Dahl N, Stalder JF, Peter MO, Moraine C, Maleville J, Boyer J, Oberlé I, Labuda D, Hors-Cayla MC. Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers. Hum Genet 1991: 86: 297-299.
-
(1991)
Hum Genet
, vol.86
, pp. 297-299
-
-
Sefiani, A.1
M'rad, R.2
Simard, L.3
Vincent, A.4
Julier, C.5
Holvoet-Vermaut, L.6
Heuertz, S.7
Dahl, N.8
Stalder, J.F.9
Peter, M.O.10
Moraine, C.11
Maleville, J.12
Boyer, J.13
Oberlé, I.14
Labuda, D.15
Hors-Cayla, M.C.16
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4
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0028069250
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The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
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Smahi A, Hyden-Granskog C, Peterlin B, Vabres P, Heuertz S, Fulchignoni-Lataud MC, Dahl N, Labrune P, Marec BL, Puissan C, Taieb A, von Koskull H, Hors-Cayla MC. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet 1994: 3: 273-278.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 273-278
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Smahi, A.1
Hyden-Granskog, C.2
Peterlin, B.3
Vabres, P.4
Heuertz, S.5
Fulchignoni-Lataud, M.C.6
Dahl, N.7
Labrune, P.8
Marec, B.L.9
Puissan, C.10
Taieb, A.11
Von Koskull, H.12
Hors-Cayla, M.C.13
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5
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0029846444
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Selection against mutant alleles in blood leukocytes in a consistent feature in incontinentia pigmenti type 2
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Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson D. Selection against mutant alleles in blood leukocytes in a consistent feature in incontinentia pigmenti type 2. Hum Mol Genet 1996: 5: 1777-1783.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1777-1783
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Parrish, J.E.1
Scheuerle, A.E.2
Lewis, R.A.3
Levy, M.L.4
Nelson, D.5
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6
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12644273793
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Linkage analysis in 16 families with incontinentia pigmenti
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Jouet M, Stewart H, Landy S, Yates J, Yong SL, Harris A, Garret C, Hatchwell E, Read A, Donnai D, Kenwrick S. Linkage analysis in 16 families with incontinentia pigmenti. Eur J Hum Genet 1997: 5: 168-170.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 168-170
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Jouet, M.1
Stewart, H.2
Landy, S.3
Yates, J.4
Yong, S.L.5
Harris, A.6
Garret, C.7
Hatchwell, E.8
Read, A.9
Donnai, D.10
Kenwrick, S.11
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7
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0024571506
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Selection against lethal alleles in female heterozygous for incontinentia pigmenti
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Migeon BR, Axelman J, de Beur SJ, Valle D, Mitchell GA, Rosenbaum KN. Selection against lethal alleles in female heterozygous for incontinentia pigmenti. Am J Hum Genet 1989: 44: 100-106.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 100-106
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Migeon, B.R.1
Axelman, J.2
De Beur, S.J.3
Valle, D.4
Mitchell, G.A.5
Rosenbaum, K.N.6
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8
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0026788532
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X-inactivation as a mechanism of selection against lethal alleles: Further investigation of incontinentia pigmenti and X-linked lymphoproliferative disease
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Harris A, Collins J, Vetrie D, Cole C, Bobrow M. X-inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X-linked lymphoproliferative disease. J Med Genet 1992: 29: 608-614.
-
(1992)
J Med Genet
, vol.29
, pp. 608-614
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Harris, A.1
Collins, J.2
Vetrie, D.3
Cole, C.4
Bobrow, M.5
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9
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0026678490
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Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation
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Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am J Med Genet 1992: 51: 1229-1239.
-
(1992)
Am J Med Genet
, vol.51
, pp. 1229-1239
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Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
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10
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0028241952
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X-linked spastic paraplegia (SPG1). MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
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Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. X-linked spastic paraplegia (SPG1). MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 1994: 7: 402-407.
-
(1994)
Nat Genet
, vol.7
, pp. 402-407
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Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
MacFarlane, J.4
Stevenson, R.5
Paterson, J.6
Metzenberg, A.7
Ionasescu, V.8
Temple, K.9
Kenwrick, S.10
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11
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0027976079
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Unstable premutation may explain mosaic disease expression of incontinentia pigmenti in males
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Traup H, Vehring KH. Unstable premutation may explain mosaic disease expression of incontinentia pigmenti in males. Am J Med Genet 1994: 49: 397-398.
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(1994)
Am J Med Genet
, vol.49
, pp. 397-398
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Traup, H.1
Vehring, K.H.2
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12
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0029989446
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Unstable premutation in incontinentia pigmenti
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Hatchwell E. Unstable premutation in incontinentia pigmenti. J Med Genet 1996: 33: 349-350.
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(1996)
J Med Genet
, vol.33
, pp. 349-350
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Hatchwell, E.1
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13
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0027263804
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Three finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11
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Hyden-Granskog C, Salonen R, von Koskull H. Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11. Hum Genet 1993: 91: 185-189.
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(1993)
Hum Genet
, vol.91
, pp. 185-189
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Hyden-Granskog, C.1
Salonen, R.2
Von Koskull, H.3
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