-
1
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 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.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
2
-
-
0035888596
-
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes
-
Aradhya S, Bardaro T, Galgoczy P, et al. 2001. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 10: 2557-2567.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2557-2567
-
-
Aradhya, S.1
Bardaro, T.2
Galgoczy, P.3
-
3
-
-
0037226450
-
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion
-
Bardaro T, Falco G, Sparago A, et al. 2003. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. Hum Mutat 21: 8-11.
-
(2003)
Hum Mutat
, vol.21
, pp. 8-11
-
-
Bardaro, T.1
Falco, G.2
Sparago, A.3
-
4
-
-
0032880588
-
Rapid and accurate determination of (CAG)n repeats in the androgen receptor gene using polymerase chain reaction and automated fragment analysis
-
Bharaj BS, Vassilikos EJ, Diamandis EP. 1999. Rapid and accurate determination of (CAG)n repeats in the androgen receptor gene using polymerase chain reaction and automated fragment analysis. Clin Biochem 32: 327-332.
-
(1999)
Clin Biochem
, vol.32
, pp. 327-332
-
-
Bharaj, B.S.1
Vassilikos, E.J.2
Diamandis, E.P.3
-
5
-
-
0017260992
-
Incontinentia Pigmenti: A world statistical analysis
-
Carney RG. 1976. Incontinentia Pigmenti: a world statistical analysis. Arch Dermatol 112: 535-542.
-
(1976)
Arch Dermatol
, vol.112
, pp. 535-542
-
-
Carney, R.G.1
-
6
-
-
0031752751
-
Second trimester miscarriage of a male fetus with incontinentia pigmenti
-
Devriendt K, Matthijs G, Fryns J-P, Ballegeer V. 1998. Second trimester miscarriage of a male fetus with incontinentia pigmenti. Am J Med Genet 80: 298-299.
-
(1998)
Am J Med Genet
, vol.80
, pp. 298-299
-
-
Devriendt, K.1
Matthijs, G.2
Fryns, J.-P.3
Ballegeer, V.4
-
7
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, et al. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 14: 152-154.
-
(1996)
Nature
, vol.14
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
-
8
-
-
0035093630
-
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
-
Doffinger R, Smahi A, Bessia C, et al. 2001. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27: 277-285.
-
(2001)
Nat Genet
, vol.27
, pp. 277-285
-
-
Doffinger, R.1
Smahi, A.2
Bessia, C.3
-
9
-
-
0027958082
-
Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe
-
Fey MF, Liechti-Gallati S, von Rohr A, et al. 1994. Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe. Blood 83: 931-938.
-
(1994)
Blood
, vol.83
, pp. 931-938
-
-
Fey, M.F.1
Liechti-Gallati, S.2
Von Rohr, A.3
-
10
-
-
0027089750
-
Idenfification of a second pseudoautosomal region near the Xq and Yq telomeres
-
Freije D, Helms C, Watson MS, Donis-Keller H. 1992. Idenfification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 11: 1784-1787.
-
(1992)
Science
, vol.11
, pp. 1784-1787
-
-
Freije, D.1
Helms, C.2
Watson, M.S.3
Donis-Keller, H.4
-
11
-
-
0032918378
-
Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus
-
Houdayer C, Lemonnier A, Gerard M, et al. 1999. Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus. Clin Chem Lab Med 37: 397-402.
-
(1999)
Clin Chem Lab Med
, vol.37
, pp. 397-402
-
-
Houdayer, C.1
Lemonnier, A.2
Gerard, M.3
-
12
-
-
0026440240
-
Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts
-
Kere J, Nagaraja R, Mumm S, Ciccodicola A, D'Urso M, Schlessinger D. 1992. Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics 14: 241-248.
-
(1992)
Genomics
, vol.14
, pp. 241-248
-
-
Kere, J.1
Nagaraja, R.2
Mumm, S.3
Ciccodicola, A.4
D'Urso, M.5
Schlessinger, D.6
-
13
-
-
0025822844
-
Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
-
Lalloz MR, McVey JH, Pattinson JK, Tuddenham EG. 1991. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 27: 207-211.
-
(1991)
Lancet
, vol.27
, pp. 207-211
-
-
Lalloz, M.R.1
McVey, J.H.2
Pattinson, J.K.3
Tuddenham, E.G.4
-
14
-
-
0027403249
-
Incontinentia pigmenti (Bloch-Sulzberger syndrome)
-
Landy SJ, Donnai D. 1993. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30: 53-59.
-
(1993)
J Med Genet
, vol.30
, pp. 53-59
-
-
Landy, S.J.1
Donnai, D.2
-
15
-
-
0029846444
-
Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2
-
Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL. 1996. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet 5: 1777-1783.
-
(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
-
16
-
-
0031973510
-
Incontinentia pigmenti in a newborn male infant with DNA confirmation
-
Roberts JL, Morrow B, Vega-Rich C, Salafia CM, Nitowsky HM. 1998. Incontinentia pigmenti in a newborn male infant with DNA confirmation. Am J Med Genet 75: 159-163.
-
(1998)
Am J Med Genet
, vol.75
, pp. 159-163
-
-
Roberts, J.L.1
Morrow, B.2
Vega-Rich, C.3
Salafia, C.M.4
Nitowsky, H.M.5
-
17
-
-
0024651107
-
The gene for incontinentia pigmenti is assigned to Xq28
-
Sefiani A, Abel L, Heuertz S, et al. 1989. The gene for incontinentia pigmenti is assigned to Xq28. Genomics 4: 427-429.
-
(1989)
Genomics
, vol.4
, pp. 427-429
-
-
Sefiani, A.1
Abel, L.2
Heuertz, S.3
-
18
-
-
0034713270
-
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti
-
The International Incontinentia Pigmenti (IP) Consortium
-
Smahi A, Courtois G, Vabres P, et al. 2000. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405: 466-472.
-
(2000)
Nature
, vol.405
, pp. 466-472
-
-
Smahi, A.1
Courtois, G.2
Vabres, P.3
|