-
1
-
-
0028264422
-
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
-
Agulnik AI, Mitchell MJ, Mattei M-G, Borsani G, Avner PA, Lerner JL, Bishop CE (1994) A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Hum Mol Genet 3:879-884
-
(1994)
Hum Mol Genet
, vol.3
, pp. 879-884
-
-
Agulnik, A.I.1
Mitchell, M.J.2
Mattei, M.-G.3
Borsani, G.4
Avner, P.A.5
Lerner, J.L.6
Bishop, C.E.7
-
2
-
-
0025183708
-
Basic local alignment search tool
-
Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
-
(1990)
J Mol Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
3
-
-
0030801002
-
Gapped Blast and PSI-Blast: A new generation of protein database search programs
-
Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25:3389-3402
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 3389-3402
-
-
Altschul, S.F.1
Madden, T.L.2
Schäffer, A.A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
Lipman, D.J.7
-
4
-
-
0028265201
-
A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)
-
Bassi MT, Bergen AAB, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JRW, Charles SJ, et al (1994) A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). Hum Mol Genet 3:647-648
-
(1994)
Hum Mol Genet
, vol.3
, pp. 647-648
-
-
Bassi, M.T.1
Bergen, A.A.B.2
Wapenaar, M.C.3
Schiaffino, M.V.4
Van Schooneveld, M.5
Yates, J.R.W.6
Charles, S.J.7
-
5
-
-
0029059066
-
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
-
Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, et al (1995) Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 10:13-19
-
(1995)
Nat Genet
, vol.10
, pp. 13-19
-
-
Bassi, M.T.1
Schiaffino, M.V.2
Renieri, A.3
De Nigris, F.4
Galli, L.5
Bruttini, M.6
Gebbia, M.7
-
7
-
-
0024828067
-
The prevalence of hearing impairment and reported hearing disability among adults in Great Britain
-
Davis AC (1989) The prevalence of hearing impairment and reported hearing disability among adults in Great Britain. Int J Epidemiol 18:911-917
-
(1989)
Int J Epidemiol
, vol.18
, pp. 911-917
-
-
Davis, A.C.1
-
8
-
-
10144229346
-
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22
-
del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernández FJ, Rodríguez M, et al (1996) A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum Mol Genet 5:1383-1387
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1383-1387
-
-
Del Castillo, I.1
Villamar, M.2
Sarduy, M.3
Romero, L.4
Herraiz, C.5
Hernández, F.J.6
Rodríguez, M.7
-
9
-
-
0032422037
-
Mapping of the murine tbl1 gene reveals a new rearrangement between mouse and human X chromosomes
-
Disteche CM, Dinulos MB, Bassi MT, Elliott RW, Rugarli EI (1998) Mapping of the murine tbl1 gene reveals a new rearrangement between mouse and human X chromosomes. Mamm Genome 9:1062-1064
-
(1998)
Mamm Genome
, vol.9
, pp. 1062-1064
-
-
Disteche, C.M.1
Dinulos, M.B.2
Bassi, M.T.3
Elliott, R.W.4
Rugarli, E.I.5
-
10
-
-
0028892091
-
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
-
Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, et al (1995) An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 4:1821-1827
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1821-1827
-
-
Ferrero, G.B.1
Franco, B.2
Roth, E.J.3
Firulli, B.A.4
Borsani, G.5
Delmas-Mata, J.6
Weissenbach, J.7
-
11
-
-
4243134624
-
Repetitive segmental structure of the transducin β subunit: Homology with the CDC4 gene and identification of related mRNAs
-
Fong HKW, Hurley JB, Hopkins RS, Miake-Lye R, Johnson MS, Doolittle RF, Simon MI (1986) Repetitive segmental structure of the transducin β subunit: homology with the CDC4 gene and identification of related mRNAs. Proc Nat Acad Sci USA 83:2162-2166
-
(1986)
Proc Nat Acad Sci USA
, vol.83
, pp. 2162-2166
-
-
Fong, H.K.W.1
Hurley, J.B.2
Hopkins, R.S.3
Miake-Lye, R.4
Johnson, M.S.5
Doolittle, R.F.6
Simon, M.I.7
-
12
-
-
0025938481
-
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
-
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, et al (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529-536
-
(1991)
Nature
, vol.353
, pp. 529-536
-
-
Franco, B.1
Guioli, S.2
Pragliola, A.3
Incerti, B.4
Bardoni, B.5
Tonlorenzi, R.6
Carrozzo, R.7
-
13
-
-
0028924667
-
A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy
-
Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, et al (1995) A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy. Cell 81:15-25
-
(1995)
Cell
, vol.81
, pp. 15-25
-
-
Franco, B.1
Meroni, G.2
Parenti, G.3
Levilliers, J.4
Bernard, L.5
Gebbia, M.6
Cox, L.7
-
14
-
-
0027941201
-
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2
-
Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, et al (1994) A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet 55:685-694
-
(1994)
Am J Hum Genet
, vol.55
, pp. 685-694
-
-
Lalwani, A.K.1
Brister, J.R.2
Fex, J.3
Grundfast, K.M.4
Pikus, A.T.5
Ploplis, B.6
San Agustin, T.7
-
15
-
-
0028017335
-
Fishing for complements: Finding genes by direct selection
-
Lovett M (1994) Fishing for complements: finding genes by direct selection. Trends Genet 10:352-357
-
(1994)
Trends Genet
, vol.10
, pp. 352-357
-
-
Lovett, M.1
-
16
-
-
0027938144
-
Analysis of a 70 kb region on the right arm of yeast chromosome II
-
Mannhaupt G, Stucka R, Ehnle S, Vetter I, Feldmann H (1994) Analysis of a 70 kb region on the right arm of yeast chromosome II. Yeast 10:1363-1381
-
(1994)
Yeast
, vol.10
, pp. 1363-1381
-
-
Mannhaupt, G.1
Stucka, R.2
Ehnle, S.3
Vetter, I.4
Feldmann, H.5
-
17
-
-
0023829903
-
"DNA Strider": A "C" program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers
-
Marck C (1988) "DNA Strider": a "C" program for the fast analysis of DNA and protein sequences on the Apple Macintosh family of computers. Nucleic Acids Res 16:1829-1836
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1829-1836
-
-
Marck, C.1
-
18
-
-
0028076764
-
The ancient regulatory-protein family of WD-repeat proteins
-
Neer EJ, Schmidt CJ, Nambudripad R, Smith TF (1994) The ancient regulatory-protein family of WD-repeat proteins. Nature 371:297-300
-
(1994)
Nature
, vol.371
, pp. 297-300
-
-
Neer, E.J.1
Schmidt, C.J.2
Nambudripad, R.3
Smith, T.F.4
-
19
-
-
0017027276
-
X-linked ocular albinism: An oculocutaneous macromelanosomal disorder
-
O'Donnell FE Jr, Hambrick GW Jr, Green WR, Iliff WJ, Stone DL (1976) X-linked ocular albinism: an oculocutaneous macromelanosomal disorder. Arch Ophthal 94:1883-1892
-
(1976)
Arch Ophthal
, vol.94
, pp. 1883-1892
-
-
O'Donnell F.E., Jr.1
Hambrick G.W., Jr.2
Green, W.R.3
Iliff, W.J.4
Stone, D.L.5
-
20
-
-
16944365777
-
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new ring finger gene on Xp22
-
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, et al (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new ring finger gene on Xp22. Nat Genet 17:285-291
-
(1997)
Nat Genet
, vol.17
, pp. 285-291
-
-
Quaderi, N.A.1
Schweiger, S.2
Gaudenz, K.3
Franco, B.4
Rugarli, E.I.5
Berger, W.6
Feldman, G.J.7
-
21
-
-
0029923473
-
Around the genomes: The Drosophila genome project
-
Rubin GM (1996) Around the genomes: the Drosophila genome project. Genome Res 6:71-79
-
(1996)
Genome Res
, vol.6
, pp. 71-79
-
-
Rubin, G.M.1
-
22
-
-
0027278607
-
Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
-
Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A, Eichele G (1993) Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet 4:19-25
-
(1993)
Nat Genet
, vol.4
, pp. 19-25
-
-
Rugarli, E.I.1
Lutz, B.2
Kuratani, S.C.3
Wawersik, S.4
Borsani, G.5
Ballabio, A.6
Eichele, G.7
-
24
-
-
0027291742
-
A high resolution deletion map of human chromosome Xp22
-
Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen GJB, et al (1993) A high resolution deletion map of human chromosome Xp22. Nat Genet 4:272-279
-
(1993)
Nat Genet
, vol.4
, pp. 272-279
-
-
Schaefer, L.1
Ferrero, G.B.2
Grillo, A.3
Bassi, M.T.4
Roth, E.J.5
Wapenaar, M.C.6
Van Ommen, G.J.B.7
-
25
-
-
0028907718
-
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region
-
Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A (1995) Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet 4:373-382
-
(1995)
Hum Mol Genet
, vol.4
, pp. 373-382
-
-
Schiaffino, M.V.1
Bassi, M.T.2
Rugarli, E.I.3
Renieri, A.4
Galli, L.5
Ballabio, A.6
-
26
-
-
17344374015
-
OA1 mutations and deletions in X-linked ocular albinism
-
Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, et al (1998) OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 62:800-809
-
(1998)
Am J Hum Genet
, vol.62
, pp. 800-809
-
-
Schnur, R.E.1
Gao, M.2
Wick, P.A.3
Keller, M.4
Benke, P.J.5
Edwards, M.J.6
Grix, A.W.7
-
27
-
-
0030034646
-
Crystal structure of a GA protein bg dimer at 2.1 resolution
-
Sondek J, Bohm A, Lambright DG, Hamm HE, Sigler PB (1996) Crystal structure of a GA protein bg dimer at 2.1 resolution. Nature 379:369-374
-
(1996)
Nature
, vol.379
, pp. 369-374
-
-
Sondek, J.1
Bohm, A.2
Lambright, D.G.3
Hamm, H.E.4
Sigler, P.B.5
-
28
-
-
0030925920
-
Pfam: A comprehensive database of protein domain families based on seed alignments
-
Sonnhammer EL, Eddy SR, Durbin R (1997) Pfam: a comprehensive database of protein domain families based on seed alignments. Proteins 28:405-420
-
(1997)
Proteins
, vol.28
, pp. 405-420
-
-
Sonnhammer, E.L.1
Eddy, S.R.2
Durbin, R.3
-
29
-
-
0027237551
-
Saccharomyces cerevisiae cdc15 mutants arrested at a late stage in anaphase are rescued by Xenopus cDNAs encoding N-ras or a protein with β-transducin repeats
-
Spevak W, Keiper BD, Stratowa C, Castanon MJ (1993) Saccharomyces cerevisiae cdc15 mutants arrested at a late stage in anaphase are rescued by Xenopus cDNAs encoding N-ras or a protein with β-transducin repeats. Mol Cell Biol 13:4953-4966
-
(1993)
Mol Cell Biol
, vol.13
, pp. 4953-4966
-
-
Spevak, W.1
Keiper, B.D.2
Stratowa, C.3
Castanon, M.J.4
-
30
-
-
0027968068
-
CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
-
Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 4673-4680
-
-
Thompson, J.D.1
Higgins, D.G.2
Gibson, T.J.3
-
31
-
-
0028219321
-
A gene from the Xp22.3 region shares homology with voltage-gated chloride channels
-
van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli E, et al (1994) A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet 3:547-552
-
(1994)
Hum Mol Genet
, vol.3
, pp. 547-552
-
-
Van Slegtenhorst, M.A.1
Bassi, M.T.2
Borsani, G.3
Wapenaar, M.C.4
Ferrero, G.B.5
De Conciliis, L.6
Rugarli, E.7
-
32
-
-
0027313285
-
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of the critical regions
-
Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, et al (1993) The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet 2:947-952
-
(1993)
Hum Mol Genet
, vol.2
, pp. 947-952
-
-
Wapenaar, M.C.1
Bassi, M.T.2
Schaefer, L.3
Grillo, A.4
Ferrero, G.B.5
Chinault, A.C.6
Ballabio, A.7
-
33
-
-
0021685461
-
X-linked inheritance of ocular albinism with late-onset sensorineural deafness
-
Winship I, Gericke G, Beighton P (1984) X-linked inheritance of ocular albinism with late-onset sensorineural deafness. Am J Med Genet 19:797-803
-
(1984)
Am J Med Genet
, vol.19
, pp. 797-803
-
-
Winship, I.1
Gericke, G.2
Beighton, P.3
-
34
-
-
0027440498
-
X-linked ocular albinism and sensorineural deafness: Linkage to Xp22.3
-
Winship IM, Babaya M, Ramesar RS (1993) X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. Genomics 18:444-445
-
(1993)
Genomics
, vol.18
, pp. 444-445
-
-
Winship, I.M.1
Babaya, M.2
Ramesar, R.S.3
|