-
1
-
-
9844262802
-
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1
-
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron J, Weissenbach J, Petit C, Weil D (1997) Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6:2247-2255
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2247-2255
-
-
Abdelhak, S.1
Kalatzis, V.2
Heilig, R.3
Compain, S.4
Samson, D.5
Vincent, C.6
Levi-Acobas, F.7
Cruaud, C.8
Le Merrer, M.9
Mathieu, M.10
Konig, R.11
Vigneron, J.12
Weissenbach, J.13
Petit, C.14
Weil, D.15
-
2
-
-
0030801002
-
Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
-
Altschul SF, Madden TL, Schaffer 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
Schaffer, A.A.3
Zhang, J.4
Zhang, Z.5
Miller, W.6
Lipman, D.J.7
-
3
-
-
0030052666
-
Standardized nomenclature for Alu repeats
-
Batzer MA, Deininger PL, Hellmann-Blumberg U, Jurka J, Labuda D, Rubin CM, Schmid CW, Zietkiewicz E, Zuckerkandl E (1996) Standardized nomenclature for Alu repeats. J Mol Evol 42:3-6
-
(1996)
J Mol Evol
, vol.42
, pp. 3-6
-
-
Batzer, M.A.1
Deininger, P.L.2
Hellmann-Blumberg, U.3
Jurka, J.4
Labuda, D.5
Rubin, C.M.6
Schmid, C.W.7
Zietkiewicz, E.8
Zuckerkandl, E.9
-
4
-
-
0031818391
-
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome
-
Bonuccelli G, Regis S, Filocamo M, Corsolini F, Caroli F, Gatti R (1998) A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome. Clin Genet 53:474-477
-
(1998)
Clin Genet
, vol.53
, pp. 474-477
-
-
Bonuccelli, G.1
Regis, S.2
Filocamo, M.3
Corsolini, F.4
Caroli, F.5
Gatti, R.6
-
5
-
-
0034164579
-
A novel mutation, Y103X, and exon skipping in a patient with Hunter disease
-
Bonuccelli G, Filocamo M, Regis S, Corsolini F, Mazzotti R, Gatti R (2000) A novel mutation, Y103X, and exon skipping in a patient with Hunter disease. Hum Mutat 15:389
-
(2000)
Hum Mutat
, vol.15
, pp. 389
-
-
Bonuccelli, G.1
Filocamo, M.2
Regis, S.3
Corsolini, F.4
Mazzotti, R.5
Gatti, R.6
-
6
-
-
0026907536
-
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)
-
Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A (1992) Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 5:335-339
-
(1992)
Hum Mol Genet
, vol.5
, pp. 335-339
-
-
Bunge, S.1
Steglich, C.2
Beck, M.3
Rosenkranz, W.4
Schwinger, E.5
Hopwood, J.J.6
Gal, A.7
-
7
-
-
0026675062
-
Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction
-
Cambien F, Poirier O, Lecerf L, Evans A, Cambou JP, Arveiler D, Luc G, Bard JM, Bara L, Ricard S, et al. (1992) Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 359:641-644
-
(1992)
Nature
, vol.359
, pp. 641-644
-
-
Cambien, F.1
Poirier, O.2
Lecerf, L.3
Evans, A.4
Cambou, J.P.5
Arveiler, D.6
Luc, G.7
Bard, J.M.8
Bara, L.9
Ricard, S.10
-
9
-
-
0022422346
-
Insertion of an Alu SINE in the human homologue of the Mlvi-2 locus
-
Economou-Pachnis A, Tsichlis PN (1985) Insertion of an Alu SINE in the human homologue of the Mlvi-2 locus. Nucleic Acids Res 13:8379-8387
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 8379-8387
-
-
Economou-Pachnis, A.1
Tsichlis, P.N.2
-
10
-
-
0035432222
-
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene
-
Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R (2001) Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene. Hum Mutat 18:164-165
-
(2001)
Hum Mutat
, vol.18
, pp. 164-165
-
-
Filocamo, M.1
Bonuccelli, G.2
Corsolini, F.3
Mazzotti, R.4
Cusano, R.5
Gatti, R.6
-
11
-
-
0027410698
-
Determination of the organization of coding sequences within the iduronate sulfatase (IDS) gene
-
Flomen RH, Green PM, Bentley DR, Giannelli F (1993) Determination of the organization of coding sequences within the iduronate sulfatase (IDS) gene. Hum Mol Genet 2:5-10
-
(1993)
Hum Mol Genet
, vol.2
, pp. 5-10
-
-
Flomen, R.H.1
Green, P.M.2
Bentley, D.R.3
Giannelli, F.4
-
12
-
-
0032993456
-
Hereditary desmoid disease in a family with a germline AluI repeat mutation of the APC gene
-
Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA, Lindor NM (1999) Hereditary desmoid disease in a family with a germline AluI repeat mutation of the APC gene. Hum Hered 49:97-102
-
(1999)
Hum Hered
, vol.49
, pp. 97-102
-
-
Halling, K.C.1
Lazzaro, C.R.2
Honchel, R.3
Bufill, J.A.4
Powell, S.M.5
Arndt, C.A.6
Lindor, N.M.7
-
13
-
-
0027142502
-
Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulfatase gene
-
Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A (1993) Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulfatase gene. Hum Mutat 2:435-442
-
(1993)
Hum Mutat
, vol.2
, pp. 435-442
-
-
Hopwood, J.J.1
Bunge, S.2
Morris, C.P.3
Wilson, P.J.4
Steglich, C.5
Beck, M.6
Schwinger, E.7
Gal, A.8
-
14
-
-
0028940268
-
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
Janicic N, Pausova Z, Cole DE, Hendy GN (1995) Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 56:880-886
-
(1995)
Am J Hum Genet
, vol.56
, pp. 880-886
-
-
Janicic, N.1
Pausova, Z.2
Cole, D.E.3
Hendy, G.N.4
-
15
-
-
0030045979
-
The age of Alu subfamilies
-
Kapitonov V, Jurka JJ (1996) The age of Alu subfamilies. Mol Evol 42:59-65
-
(1996)
Mol Evol
, vol.42
, pp. 59-65
-
-
Kapitonov, V.1
Jurka, J.J.2
-
16
-
-
17344370076
-
The impact of L1 retrotransposons on the human genome
-
Kazazian HH Jr and Moran JV (1998) The impact of L1 retrotransposons on the human genome. Nat Genet 19:19-24
-
(1998)
Nat Genet
, vol.19
, pp. 19-24
-
-
Kazazian H.H., Jr.1
Moran, J.V.2
-
17
-
-
0028969936
-
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome
-
Knebelmann B, Forestier L, Drouot L, Quinones S, Chuet C, Benessy F, Saus J, Antignac C (1995) Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Genet 4:675-679
-
(1995)
Hum Mol Genet
, vol.4
, pp. 675-679
-
-
Knebelmann, B.1
Forestier, L.2
Drouot, L.3
Quinones, S.4
Chuet, C.5
Benessy, F.6
Saus, J.7
Antignac, C.8
-
18
-
-
0031092272
-
The human gene mutation database
-
Krawczak M, Cooper DN (1997) The human gene mutation database. Trends Genet 13:121-122
-
(1997)
Trends Genet
, vol.13
, pp. 121-122
-
-
Krawczak, M.1
Cooper, D.N.2
-
19
-
-
0034113706
-
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene
-
Lagerstedt K, Carlberg BM, Karimi-Nejad R, Kleijer WJ, Bondeson ML (2000) Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): Identification of a fusion transcript including sequences from the gene W and the IDS gene. Hum Mutat 15:324-331
-
(2000)
Hum Mutat
, vol.15
, pp. 324-331
-
-
Lagerstedt, K.1
Carlberg, B.M.2
Karimi-Nejad, R.3
Kleijer, W.J.4
Bondeson, M.L.5
-
20
-
-
0002266362
-
X-linked immunodeficiency caused by insertion of Alu repeat sequences
-
Lester T, McMahon C, Van Regemorter N, Jones A, Genet S (1997) X-linked immunodeficiency caused by insertion of Alu repeat sequences. J Med Gen 34 (suppl 1):S81
-
(1997)
J Med Gen
, vol.34
, Issue.SUPPL. 1
-
-
Lester, T.1
McMahon, C.2
Van Regemorter, N.3
Jones, A.4
Genet, S.5
-
21
-
-
0030058209
-
Mutation analysis in the BRCA2 gene in primary breast cancer
-
Miki Y, Katagiri T, Kasumi F, Yoshimoto T, Nokamura Y (1996) Mutation analysis in the BRCA2 gene in primary breast cancer. Nat Genet 13:245-247
-
(1996)
Nat Genet
, vol.13
, pp. 245-247
-
-
Miki, Y.1
Katagiri, T.2
Kasumi, F.3
Yoshimoto, T.4
Nokamura, Y.5
-
22
-
-
0026322613
-
Inactivation of the cholinesterase gene by Alu insertion: Possible mechanism for human gene transposition
-
Muratani K, Hoda T, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K (1991) Inactivation of the cholinesterase gene by Alu insertion: Possible mechanism for human gene transposition. Proc Natl Acad Sci USA 88:11315-11319
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 11315-11319
-
-
Muratani, K.1
Hoda, T.2
Yamamoto, Y.3
Kaneko, T.4
Shigeto, Y.5
Ohue, T.6
Furuyama, J.7
Higashino, K.8
-
23
-
-
0032971402
-
Insertion of Alu element responsible for acute intermittent porphyria
-
Mustajoki S, Ahola H, Mustajoki P, Kauppinen R (1999) Insertion of Alu element responsible for acute intermittent porphyria. Hum Mutat 13:431-438
-
(1999)
Hum Mutat
, vol.13
, pp. 431-438
-
-
Mustajoki, S.1
Ahola, H.2
Mustajoki, P.3
Kauppinen, R.4
-
24
-
-
0000820862
-
The mucopolysaccharidoses
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds); McGraw-Hill, New York
-
Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease (8th edn). McGraw-Hill, New York, pp 3421-3452
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease (8th edn)
, pp. 3421-3452
-
-
Neufeld, E.F.1
Muenzer, J.2
-
25
-
-
0033073850
-
De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
-
Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO (1999) De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 64:446-461
-
(1999)
Am J Hum Genet
, vol.64
, pp. 446-461
-
-
Oldridge, M.1
Zackai, E.H.2
McDonald-McGinn, D.M.3
Iseki, S.4
Morriss-Kay, G.M.5
Twigg, S.R.6
Johnson, D.7
Wall, S.A.8
Jiang, W.9
Theda, C.10
Jabs, E.W.11
Wilkie, A.O.12
-
26
-
-
0035680324
-
The HUGO Gene Nomenclature Committee (HGNC)
-
Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
-
(2001)
Hum Genet
, vol.109
, pp. 678-680
-
-
Povey, S.1
Lovering, R.2
Bruford, E.3
Wright, M.4
Lush, M.5
Wain, H.6
-
27
-
-
0028967353
-
One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi
-
Rudiger NS, Gregersen N, Kielland-Brandt MC (1995) One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 23:256-260
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 256-260
-
-
Rudiger, N.S.1
Gregersen, N.2
Kielland-Brandt, M.C.3
-
28
-
-
0025174888
-
Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus deleterious rearrangements
-
Stoppa-Lyonnet D, Carter PE, Meo T, Tosi M (1990) Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus deleterious rearrangements. Proc Natl Acad Sci USA 87:1551-1555
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1551-1555
-
-
Stoppa-Lyonnet, D.1
Carter, P.E.2
Meo, T.3
Tosi, M.4
-
29
-
-
0035171986
-
An Alu insertion as the cause of a severe form of hemophilia A.
-
Sukarova E, Dimovski AJ, Tchacarova P, Petkov GH, Efremov GD (2001) An Alu insertion as the cause of a severe form of hemophilia A. Acta Haematol 106:126-129
-
(2001)
Acta Haematol
, vol.106
, pp. 126-129
-
-
Sukarova, E.1
Dimovski, A.J.2
Tchacarova, P.3
Petkov, G.H.4
Efremov, G.D.5
-
30
-
-
34547482536
-
Inactivation of the Fas gene by Alu insertion: Retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome
-
Tighe PJ, Stevens SE, Dempsey S, Le Deist F, Rieux-Laucat F, Edgar JDM (2002) Inactivation of the Fas gene by Alu insertion: Retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome. Genes Immunol 3 (suppl 1):S66-70
-
(2002)
Genes Immunol
, vol.3
, Issue.SUPPL. 1
-
-
Tighe, P.J.1
Stevens, S.E.2
Dempsey, S.3
Le Deist, F.4
Rieux-Laucat, F.5
Edgar, J.D.M.6
-
31
-
-
0029165961
-
130kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus
-
Timms KM, Lu F, Shen Y, Pierson CA, Muzny DM, Gu Y, Nelson DL (1995) 130kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 5:71-78
-
(1995)
Genome Res
, vol.5
, pp. 71-78
-
-
Timms, K.M.1
Lu, F.2
Shen, Y.3
Pierson, C.A.4
Muzny, D.M.5
Gu, Y.6
Nelson, D.L.7
-
32
-
-
0031044151
-
Molecular and phenotypic variation in patients with severe Hunter syndrome
-
Timms M, Bondeson ML, Ali Ansari-Lari M, Lagerstedt K, Muzny M, Dugan-Rocha PS, Nelson DL, Petterson U, Gibbs A (1997) Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 6:479-486
-
(1997)
Hum Mol Genet
, vol.6
, pp. 479-486
-
-
Timms, M.1
Bondeson, M.L.2
Ali Ansari-Lari, M.3
Lagerstedt, K.4
Muzny, M.5
Dugan-Rocha, P.S.6
Nelson, D.L.7
Petterson, U.8
Gibbs, A.9
-
33
-
-
0027874926
-
Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene
-
Vidaud D, Vidaud M, Bahnak BR, Siguret V, Gispert Sanchez S, Laurian Y, Meyer D, Goossens M, Lavergne JM (1993) Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene. Eur J Hum Genet 1:30-36
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 30-36
-
-
Vidaud, D.1
Vidaud, M.2
Bahnak, B.R.3
Siguret, V.4
Gispert Sanchez, S.5
Laurian, Y.6
Meyer, D.7
Goossens, M.8
Lavergne, J.M.9
-
34
-
-
0025951042
-
A de novo Alu insertion results in neurofibromatosis type 1
-
Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS (1991) A de novo Alu insertion results in neurofibromatosis type 1. Nature 353:864-866
-
(1991)
Nature
, vol.353
, pp. 864-866
-
-
Wallace, M.R.1
Andersen, L.B.2
Saulino, A.M.3
Gregory, P.E.4
Glover, T.W.5
Collins, F.S.6
-
35
-
-
0025029196
-
Hunter syndrome: Isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA
-
Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ (1990) Hunter syndrome: Isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 87:8531-8535
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8531-8535
-
-
Wilson, P.J.1
Morris, C.P.2
Anson, D.S.3
Occhiodoro, T.4
Bielicki, J.5
Clements, P.R.6
Hopwood, J.J.7
-
37
-
-
0038174791
-
Identification of a novel large F9 gene mutation - An insertion of an Alu repeated DNA element in exon e of the factor 9 gene
-
Wulff K, Gazda H, Schroder W, Robicka-Miwska, Herrmann FH (1999) Identification of a novel large F9 gene mutation - An insertion of an Alu repeated DNA element in exon e of the factor 9 gene. Hum Mutat Online
-
(1999)
Hum Mutat Online
-
-
Wulff, K.1
Gazda, H.2
Schroder, W.3
Robicka-Miwska4
Herrmann, F.H.5
-
38
-
-
0034077748
-
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency
-
Zhang YH, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ERB (2000) AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat 15:316-323
-
(2000)
Hum Mutat
, vol.15
, pp. 316-323
-
-
Zhang, Y.H.1
Dipple, K.M.2
Vilain, E.3
Huang, B.L.4
Finlayson, G.5
Therrell, B.L.6
Worley, K.7
Deininger, P.8
McCabe, E.R.B.9
|