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1
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0027403249
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Incontinentia pigmenti (Bloch-Sulzberger syndrome)
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Landy, S. J. and Donnai, D. (1993) Incontinentia pigmenti (Bloch-Sulzberger syndrome). J. Med. Genet. 30, 53-59.
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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. and Hors-Cayla, M. C. (1989) The gene for incontinentia pigmenti is assigned to Xq28. Genomics 4, 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, J. F., Peter, M. O., Moraine, C., Maleville, J., Boyer, J., Oberlé, I., Labuda, D. and Hors-Cayla, M. C. (1991) Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers. Hum. Genet. 86, 297-299.
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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 maps to the distal part of Xq28
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Smahi, A., Hyden-Granskog, C., Peterlin, B., Vabres, P., Heuertz, S., Fulchignoni-Lataud, M. C., Dahl, N., Labrune, P., Le Marec, B., Piussan, C., Taieb, A., von Koskull, H. and Hors-Cayla, M. C. (1994) The gene for the familial form of incontinentia pigmenti maps to the distal part of Xq28. Hum. Mol. Genet. 3, 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
Le Marec, B.9
Piussan, C.10
Taieb, A.11
Von Koskull, H.12
Hors-Cayla, M.C.13
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5
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0024571506
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Selection against lethal alleles in females heterozygous for incontinentia pigmenti
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Migeon, B. R., Axelman, J., de Beur, S. J., Valle, D., Milchell, G. A. and Rosenbaum, K. N. (1989) Selection against lethal alleles in females heterozygous for incontinentia pigmenti. Am. J. Hum. Genet. 44, 100-106.
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Migeon, B.R.1
Axelman, J.2
De Beur, S.J.3
Valle, D.4
Milchell, G.A.5
Rosenbaum, K.N.6
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6
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0022341303
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X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance
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Wieacker, P., Zimmer, J. and Ropers, H.-H. (1985) X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. Clin. Genet. 28, 238-242.
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Wieacker, P.1
Zimmer, J.2
Ropers, H.-H.3
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7
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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. and Bobrow, M. (1992) X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. J. Med. Genet. 29, 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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8
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0027274091
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Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia
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Coleman, R., Genet, S. A., Harper, J. I. and Wilkie, A. O. M. (1993) Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia. J. Med. Genet. 30, 497-500.
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Coleman, R.1
Genet, S.A.2
Harper, J.I.3
Wilkie, A.O.M.4
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9
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0026678490
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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation
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Allen, R. C., Zoghbi, H. Y., Moseley, A. B., Rosenblatt, H. M. and Belmont, J. W. (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51, 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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0028097487
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De novo mutation in three families with multigenerational incontinentia pigmenti
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Scheuerle, A., Lewis, R. A., Levy, M. L. and Nelson, D. L. (1994) De novo mutation in three families with multigenerational incontinentia pigmenti. Am. J. Hum. Genet. 55, 1279-1281.
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Scheuerle, A.1
Lewis, R.A.2
Levy, M.L.3
Nelson, D.L.4
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11
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0029983638
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Exclusive paternal origin of new mutations in Apert syndrome
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Moloney, D. M., Slaney, S. F., Oldridge, M., Wall, S. A., Sahlin, P., Stenman, G. and Wilkie, A. O. M. (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet. 13, 48-53.
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Moloney, D.M.1
Slaney, S.F.2
Oldridge, M.3
Wall, S.A.4
Sahlin, P.5
Stenman, G.6
Wilkie, A.O.M.7
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12
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0028180964
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Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
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Rossiter, J. P., Young, M., Kimberland, M. L., Hutter, P., Ketterling, R. P., Gitschier, J., Horst, J., Morris, M. A., Schaid, D. J., de Moerloose, P., Sommer, S. S., Kazazian, H. H., Jr. and Antonarakis, S. E. (1994) Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum. Mol. Genet. 3, 1035-1039.
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Rossiter, J.P.1
Young, M.2
Kimberland, M.L.3
Hutter, P.4
Ketterling, R.P.5
Gitschier, J.6
Horst, J.7
Morris, M.A.8
Schaid, D.J.9
De Moerloose, P.10
Sommer, S.S.11
Kazazian Jr., H.H.12
Antonarakis, S.E.13
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13
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0027405870
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Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation
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Ketterling, R. P., Vielhaber, E., Bottema, C. D. K., Schaid, D. J., Cohen, M. P., Sexauer, C. L. and Sommer, S. S. (1993) Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation. Am. J. Hum. Genet. 52, 152-166.
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Ketterling, R.P.1
Vielhaber, E.2
Bottema, C.D.K.3
Schaid, D.J.4
Cohen, M.P.5
Sexauer, C.L.6
Sommer, S.S.7
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14
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0030009791
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High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
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Thomas, G. H. (1996) High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am. J. Hum. Genet. 58, 1364-1368.
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Thomas, G.H.1
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15
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0027958082
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Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe
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Fey, M. F., Liechti-Gallati, S., von Rohr, A., Borisch, B., Theilkas, L., Schneider, V., Oestreicher, M., Nagel, S., Ziemiecki, A. and Tobler, A. (1994) Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe. Blood 83, 931-938.
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Blood
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Fey, M.F.1
Liechti-Gallati, S.2
Von Rohr, A.3
Borisch, B.4
Theilkas, L.5
Schneider, V.6
Oestreicher, M.7
Nagel, S.8
Ziemiecki, A.9
Tobler, A.10
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16
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0002026306
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Skewed X-inactivation can be inherited as a Mendelian trait in humans
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Hoffman, E. P. and Pegoraro, E. (1995) Skewed X-inactivation can be inherited as a Mendelian trait in humans. Am. J. Hum. Genet. 57, A49.
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Hoffman, E.P.1
Pegoraro, E.2
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17
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0030009776
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Heritability of X chromosome-inactivation phenotype in a large family
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Naumova, A. K., Plenge, R. M., Bird, L. M., Leppert, M., Morgan, K., Willard, H. F. and Sapienza, C. (1996) Heritability of X chromosome-inactivation phenotype in a large family. Am. J. Hum. Genet. 58, 1111-1119.
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Naumova, A.K.1
Plenge, R.M.2
Bird, L.M.3
Leppert, M.4
Morgan, K.5
Willard, H.F.6
Sapienza, C.7
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18
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9244234493
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Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the human RCP/GCP and G6PD loci
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Chen, E. Y., Zollo, M., Mazzarella, R., Ciccodicola, A., Chen, C.-n., Zuo, L., Heiner, C., Burough, F., Repetto, M., Schlessinger, D. and D'Urso, M. (1996) Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the human RCP/GCP and G6PD loci. Hum. Mol. Genet. 5, 659-668.
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, vol.5
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Chen, E.Y.1
Zollo, M.2
Mazzarella, R.3
Ciccodicola, A.4
Chen, C.-N.5
Zuo, L.6
Heiner, C.7
Burough, F.8
Repetto, M.9
Schlessinger, D.10
D'Urso, M.11
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