-
1
-
-
0028916022
-
The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia
-
Aalfs C. M., van den Berg H., Barth P. G., Hennekam R. C. The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. Eur. J. Pediatr. 154:1995;304-308.
-
(1995)
Eur. J. Pediatr.
, vol.154
, pp. 304-308
-
-
Aalfs, C.M.1
Van Den Berg, H.2
Barth, P.G.3
Hennekam, R.C.4
-
2
-
-
0344299191
-
Gross G developmental expression analysis of murine autotaxin (ATX)
-
Bächner D., Ahrens M., Betat N., Schröder D. Gross G developmental expression analysis of murine autotaxin (ATX). Mech. Dev. 84:1999;121.
-
(1999)
Mech. Dev.
, vol.84
, pp. 121
-
-
Bächner, D.1
Ahrens, M.2
Betat, N.3
Schröder, D.4
-
3
-
-
0027715424
-
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and female gonad
-
Bächner D., Manca A., Steinbach P., Wöhrle D., Just W., Vogel W., Hameister H., Poustka A. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and female gonad. Hum. Mol. Genet. 2:1993;2043-2050.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2043-2050
-
-
Bächner, D.1
Manca, A.2
Steinbach, P.3
Wöhrle, D.4
Just, W.5
Vogel, W.6
Hameister, H.7
Poustka, A.8
-
5
-
-
0028122239
-
Dyskeratosis congenita is a chromosomal instability disorder
-
Dokal I., Luzzatto L. Dyskeratosis congenita is a chromosomal instability disorder. Leuk. Lymphoma. 15:1994;1-7.
-
(1994)
Leuk. Lymphoma
, vol.15
, pp. 1-7
-
-
Dokal, I.1
Luzzatto, L.2
-
6
-
-
0033496676
-
Dyskeratosis congenita: Recent advances and future directions
-
Dokal I. Dyskeratosis congenita: Recent advances and future directions. J. Pediatr. Hematol. Oncol. 21:1999;344-350.
-
(1999)
J. Pediatr. Hematol. Oncol.
, vol.21
, pp. 344-350
-
-
Dokal, I.1
-
7
-
-
0030446266
-
CDNA sequence and genomic structure of the murine p55 (Mpp1) gene
-
Elder B., Kuo K., Gitschier J., Kim A., Chishti A., Metzenberg A. cDNA sequence and genomic structure of the murine p55 (Mpp1) gene. Genomics. 38:1996;231-234.
-
(1996)
Genomics
, vol.38
, pp. 231-234
-
-
Elder, B.1
Kuo, K.2
Gitschier, J.3
Kim, A.4
Chishti, A.5
Metzenberg, A.6
-
8
-
-
0033594085
-
Minifly, a Drosophila gene required for ribosome biogenesis
-
Giordano E., Peluso I., Senger S., Furia M. Minifly, a Drosophila gene required for ribosome biogenesis. J. Cell Biol. 144:1999;1123-1133.
-
(1999)
J. Cell Biol.
, vol.144
, pp. 1123-1133
-
-
Giordano, E.1
Peluso, I.2
Senger, S.3
Furia, M.4
-
9
-
-
0032962316
-
Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene
-
Hassock S., Vetrie D., Giannelli F. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene. Genomics. 55:1999;21-27.
-
(1999)
Genomics
, vol.55
, pp. 21-27
-
-
Hassock, S.1
Vetrie, D.2
Giannelli, F.3
-
10
-
-
0032754538
-
Dyskerin localises to the nucleolus and its mislocalisation is unlikely to play a role in the pathogenesis of dyskeratosis congenita
-
Heiss N. S., Girod A., Salowsky R., Wiemann S., Pepperkok R., Poustka A. Dyskerin localises to the nucleolus and its mislocalisation is unlikely to play a role in the pathogenesis of dyskeratosis congenita. Hum. Mol. Genet. 8:1999;2515-2524.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2515-2524
-
-
Heiss, N.S.1
Girod, A.2
Salowsky, R.3
Wiemann, S.4
Pepperkok, R.5
Poustka, A.6
-
11
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
Heiss N. S., Knight S. W., Vulliamy T. J., Klauck S. M., Wiemann S., Mason P. J., Poustka A., Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet. 19:1998;32-38.
-
(1998)
Nat. Genet.
, vol.19
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, T.J.3
Klauck, S.M.4
Wiemann, S.5
Mason, P.J.6
Poustka, A.7
Dokal, I.8
-
12
-
-
0032401740
-
Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs
-
Henras A., Henry Y., Bousquet-Antonelli C., Noaillac-Depeyre J., Gelugne J. P., Caizergues-Ferrer M. Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. EMBO J. 17:1998;7078-7090.
-
(1998)
EMBO J.
, vol.17
, pp. 7078-7090
-
-
Henras, A.1
Henry, Y.2
Bousquet-Antonelli, C.3
Noaillac-Depeyre, J.4
Gelugne, J.P.5
Caizergues-Ferrer, M.6
-
13
-
-
0027182790
-
An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules
-
Jiang W., Middleton K., Yoon H.-J., Fouquet C., Carbon J. An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules. Mol. Cell. Biol. 13:1993;4884-4893.
-
(1993)
Mol. Cell. Biol.
, vol.13
, pp. 4884-4893
-
-
Jiang, W.1
Middleton, K.2
Yoon, H.-J.3
Fouquet, C.4
Carbon, J.5
-
14
-
-
0032424906
-
Dyskeratosis congenita (DC) registry: Identification of new features of DC
-
Knight S., Vulliamy T., Copplestone A., Gluckman E., Mason P., Dokal I. Dyskeratosis congenita (DC) registry: Identification of new features of DC. Br. J. Haematol. 103:1998;990-996.
-
(1998)
Br. J. Haematol.
, vol.103
, pp. 990-996
-
-
Knight, S.1
Vulliamy, T.2
Copplestone, A.3
Gluckman, E.4
Mason, P.5
Dokal, I.6
-
15
-
-
0033362103
-
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
-
Knight S. W., Heiss N. S., Vulliamy T. J., Greschner S., Stavrides G., Pai G. S., Lestringant G., Varma N., Mason P. J., Dokal I., Poustka A. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am. J. Hum. Genet. 65:1999a;50-58.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 50-58
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
Greschner, S.4
Stavrides, G.5
Pai, G.S.6
Lestringant, G.7
Varma, N.8
Mason, P.J.9
Dokal, I.10
Poustka, A.11
-
16
-
-
0032705706
-
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
-
Knight S. W., Heiss N. S., Vulliamy T. J., Aalfs C. M., McMahon C., Richmond P., Jones A., Hennekam R. C., Poustka A., Mason P. J., Dokal I. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br. J. Haematol. 107:1999b;335-339.
-
(1999)
Br. J. Haematol.
, vol.107
, pp. 335-339
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
Aalfs, C.M.4
McMahon, C.5
Richmond, P.6
Jones, A.7
Hennekam, R.C.8
Poustka, A.9
Mason, P.J.10
Dokal, I.11
-
17
-
-
0020480781
-
Ubiquitous transposon-like repeats B1 and B2 of the mouse genome: B2 sequencing
-
Krayev A. S., Markusheva T. V., Kramerov D. A., Ryskov A. P., Skryabin K. G., Bayev A. A., Georgiev G. P. Ubiquitous transposon-like repeats B1 and B2 of the mouse genome: B2 sequencing. Nucleic Acids Res. 10:1982;7461-7475.
-
(1982)
Nucleic Acids Res.
, vol.10
, pp. 7461-7475
-
-
Krayev, A.S.1
Markusheva, T.V.2
Kramerov, D.A.3
Ryskov, A.P.4
Skryabin, K.G.5
Bayev, A.A.6
Georgiev, G.P.7
-
18
-
-
0032520182
-
The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase
-
Lafontaine D. L. J., Bousquet-Antonelli C., Henry Y., Caizergues-Ferrer M., Tollervey D. The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes. Dev. 12:1998;527-537.
-
(1998)
Genes. Dev.
, vol.12
, pp. 527-537
-
-
Lafontaine, D.L.J.1
Bousquet-Antonelli, C.2
Henry, Y.3
Caizergues-Ferrer, M.4
Tollervey, D.5
-
19
-
-
0031945722
-
Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: A clinicopathological observation in three siblings
-
Larnaout A., Belal S., Ben Hamida C., Ben Hamida M., Hentati F. Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: A clinicopathological observation in three siblings. J. Neurol. 245:1998;231-235.
-
(1998)
J. Neurol.
, vol.245
, pp. 231-235
-
-
Larnaout, A.1
Belal, S.2
Ben Hamida, C.3
Ben Hamida, M.4
Hentati, F.5
-
20
-
-
0031934467
-
Origin, proliferation and differentiation of Leydig cells
-
Lejeune H., Habert R., Saez J. M. Origin, proliferation and differentiation of Leydig cells. J. Mol. Endocrinol. 20:1998;1-25.
-
(1998)
J. Mol. Endocrinol.
, vol.20
, pp. 1-25
-
-
Lejeune, H.1
Habert, R.2
Saez, J.M.3
-
21
-
-
0031745970
-
Dyskeratosis and ribosomal rebellion
-
Luzzatto L., Karadimitris A. Dyskeratosis and ribosomal rebellion. Nat. Genet. 19:1998;6-7.
-
(1998)
Nat. Genet.
, vol.19
, pp. 6-7
-
-
Luzzatto, L.1
Karadimitris, A.2
-
22
-
-
0032412301
-
Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages
-
Mahmood F., King M. D., Smyth O. P., Farrell M. A. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. Neuropediatrics. 29:1998;302-306.
-
(1998)
Neuropediatrics
, vol.29
, pp. 302-306
-
-
Mahmood, F.1
King, M.D.2
Smyth, O.P.3
Farrell, M.A.4
-
23
-
-
0028117705
-
NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria
-
Meier U. T., Blobel G. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J. Cell. Biol. 127:1994;1505-1514.
-
(1994)
J. Cell. Biol.
, vol.127
, pp. 1505-1514
-
-
Meier, U.T.1
Blobel, G.2
-
24
-
-
0032961170
-
A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end
-
Mitchell J. R., Cheng J., Collins K. A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol. Cell. Biol. 19:1999a;567-576.
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 567-576
-
-
Mitchell, J.R.1
Cheng, J.2
Collins, K.3
-
25
-
-
0033518188
-
A telomerase component is defective in the human disease dyskeratosis congenita
-
Mitchell J. R., Wood E., Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature. 402:1999b;551-555.
-
(1999)
Nature
, vol.402
, pp. 551-555
-
-
Mitchell, J.R.1
Wood, E.2
Collins, K.3
-
26
-
-
0030867359
-
The Hoyeraal-Hreidarsson syndrome: The presentation of the seventh case
-
Nespoli L., Lascari C., Maccario R., Nosetti L., Broggi U., Locatelli F., Binda S., Gaudio F., Casalone R., Bosi F. The Hoyeraal-Hreidarsson syndrome: The presentation of the seventh case. Eur. J. Pediatr. 156:1997;818-820.
-
(1997)
Eur. J. Pediatr.
, vol.156
, pp. 818-820
-
-
Nespoli, L.1
Lascari, C.2
Maccario, R.3
Nosetti, L.4
Broggi, U.5
Locatelli, F.6
Binda, S.7
Gaudio, F.8
Casalone, R.9
Bosi, F.10
-
27
-
-
0030090487
-
Localization of the gene encoding the erythrocyte membrane protein p55(Mpp1) on the mouse X chromosome
-
Peters L. L., Kirley L. A., Kim A. C., Chishti A. H. Localization of the gene encoding the erythrocyte membrane protein p55(Mpp1) on the mouse X chromosome. Mamm. Genome. 7:1996;245-246.
-
(1996)
Mamm. Genome
, vol.7
, pp. 245-246
-
-
Peters, L.L.1
Kirley, L.A.2
Kim, A.C.3
Chishti, A.H.4
-
28
-
-
0031597376
-
The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast
-
Phillips B., Billin A. N., Cadwell C., Buchholz R., Erickson C., Merriam J. R., Carbon J., Poole S. J. The Nop60B gene of Drosophila encodes an essential nucleolar protein that functions in yeast. Mol. Gen. Genet. 260:1998;20-29.
-
(1998)
Mol. Gen. Genet.
, vol.260
, pp. 20-29
-
-
Phillips, B.1
Billin, A.N.2
Cadwell, C.3
Buchholz, R.4
Erickson, C.5
Merriam, J.R.6
Carbon, J.7
Poole, S.J.8
-
29
-
-
0033529594
-
Critical aspartic acid residues in pseudouridine synthases
-
Ramamurthy V., Swann S. L., Paulson J. L., Spedaliere C. J., Mueller E. G. Critical aspartic acid residues in pseudouridine synthases. J. Biol. Chem. 274:1999;22225-22230.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 22225-22230
-
-
Ramamurthy, V.1
Swann, S.L.2
Paulson, J.L.3
Spedaliere, C.J.4
Mueller, E.G.5
-
31
-
-
0027310879
-
Whole mount in situ hybridization in the mouse embryo: Gene expression in three dimensions
-
Rosen B., Beddington R. S. P. Whole mount in situ hybridization in the mouse embryo: Gene expression in three dimensions. Trends Genet. 9:1993;162-167.
-
(1993)
Trends Genet.
, vol.9
, pp. 162-167
-
-
Rosen, B.1
Beddington, R.S.P.2
-
32
-
-
0033579364
-
Mutant dyskerin ends relationship with telomerase
-
Shay J. W., Wright W. E. Mutant dyskerin ends relationship with telomerase. Science. 286:1999;2284-2285.
-
(1999)
Science
, vol.286
, pp. 2284-2285
-
-
Shay, J.W.1
Wright, W.E.2
-
33
-
-
0033029304
-
An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia
-
Tashiro H., Suzuki S. O., Hitotsumatsu T., Iwaki T. An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia. Clin. Neuropathol. 18:1999;198-204.
-
(1999)
Clin. Neuropathol.
, vol.18
, pp. 198-204
-
-
Tashiro, H.1
Suzuki, S.O.2
Hitotsumatsu, T.3
Iwaki, T.4
-
34
-
-
0033566881
-
Dyskeratosis congenita caused by a 3′ deletion: Germline and somatic mosaicism in a female carrier
-
Vulliamy T. J., Knight S. W., Heiss N. S., Smith O. P., Poustka A., Dokal I., Mason P. J. Dyskeratosis congenita caused by a 3′ deletion: Germline and somatic mosaicism in a female carrier. Blood. 94:1999a;1254-1260.
-
(1999)
Blood
, vol.94
, pp. 1254-1260
-
-
Vulliamy, T.J.1
Knight, S.W.2
Heiss, N.S.3
Smith, O.P.4
Poustka, A.5
Dokal, I.6
Mason, P.J.7
-
35
-
-
4243927279
-
Mutations in X-linked dyskeratosis congenita (DC) gene (DKC1) only account for ~50% of families: Further evidence for additional DC gene
-
Vulliamy T. J., Knight S. W., Mason P. J., Dokal I. Mutations in X-linked dyskeratosis congenita (DC) gene (DKC1) only account for ~50% of families: further evidence for additional DC gene. Blood. 94:1999b;674a.
-
(1999)
Blood
, vol.94
-
-
Vulliamy, T.J.1
Knight, S.W.2
Mason, P.J.3
Dokal, I.4
-
36
-
-
0033929321
-
Overlap of dyskaratosis congenita with Hoyeraal-Hreidarsson syndrome
-
Yaghmai R., Kimyai-Asadi A., Rostamiani K., Heiss N. S., Poustka A., Eyaid W., Bodurtha J., Nousari H. C., Hamosh A., Metzenberg A. Overlap of dyskaratosis congenita with Hoyeraal-Hreidarsson syndrome. J. Pediatr. 136:2000;390-393.
-
(2000)
J. Pediatr.
, vol.136
, pp. 390-393
-
-
Yaghmai, R.1
Kimyai-Asadi, A.2
Rostamiani, K.3
Heiss, N.S.4
Poustka, A.5
Eyaid, W.6
Bodurtha, J.7
Nousari, H.C.8
Hamosh, A.9
Metzenberg, A.10
-
37
-
-
0032718276
-
Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA
-
Zebarjadian Y., King T., Fournier M. J., Clarke L., Carbon J. Point mutations in yeast CBF5 can abolish in vivo pseudouridylation of rRNA. Mol. Cell. Biol. 19:1999;7461-7472.
-
(1999)
Mol. Cell. Biol.
, vol.19
, pp. 7461-7472
-
-
Zebarjadian, Y.1
King, T.2
Fournier, M.J.3
Clarke, L.4
Carbon, J.5
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