-
1
-
-
20144383607
-
Introducing the online version of the gene table for neuromuscular disease (nuclear genes only)
-
DOI 10.1016/j.nmd.2004.12.002
-
Hamroun D, Beroud C, Fontaine B, Kaplan JC (2005) Introducing the online version of the gene table for neuromuscular disease (nuclear genes only). Neuromuscul Disord 15:88 (Pubitemid 41556639)
-
(2005)
Neuromuscular Disorders
, vol.15
, Issue.1
, pp. 88
-
-
Hamroun, D.1
Beroud, C.2
Fontaine, B.3
Kaplan, J.-C.4
-
2
-
-
66349094547
-
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase
-
Tuffery-Giraud S, Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossee M, Boisseau P et al (2009) Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 30:934-945
-
(2009)
Hum Mutat
, vol.30
, pp. 934-945
-
-
Tuffery-Giraud, S.1
Beroud, C.2
Leturcq, F.3
Yaou, R.B.4
Hamroun, D.5
Michel-Calemard, L.6
Moizard, M.P.7
Bernard, R.8
Cossee, M.9
Boisseau, P.10
-
3
-
-
24344433102
-
UMD (Universal Mutation Database): 2005 Update
-
DOI 10.1002/humu.20210
-
Beroud C, Hamroun D, Collod-Beroud G, Boileau C, Soussi T, Claustres M (2005) UMD (Universal Mutation Database): 2005 update. Hum Mutat 26:184-191 (Pubitemid 41254373)
-
(2005)
Human Mutation
, vol.26
, Issue.3
, pp. 184-191
-
-
Beroud, C.1
Hamroun, D.2
Collod-Beroud, G.3
Boileau, C.4
Soussi, T.5
Claustres, M.6
-
4
-
-
43349086908
-
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms
-
Unit 1 13
-
Cooper DN, Stenson PD, Chuzhanova NA (2006) The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms. Curr Protoc Bioinformatics Chapter 1, Unit 1 13
-
(2006)
Curr Protoc Bioinformatics Chapter 1
-
-
Cooper, D.N.1
Stenson, P.D.2
Chuzhanova, N.A.3
-
5
-
-
0042671357
-
Pre-mRNA splicing: Awash in a sea of proteins
-
DOI 10.1016/S1097-2765(03)00270-3
-
Jurica MS, Moore MJ (2003) Pre-mRNA splicing: awash in a sea of proteins. Mol Cell 12:5-14 (Pubitemid 36945033)
-
(2003)
Molecular Cell
, vol.12
, Issue.1
, pp. 5-14
-
-
Jurica, M.S.1
Moore, M.J.2
-
7
-
-
0031456850
-
Classification of introns: U2-type or U12-type
-
DOI 10.1016/S0092-8674(00)80479-1
-
Sharp PA, Burge CB (1997) Classification of introns: U2-type or U12-type. Cell 91:875-879 (Pubitemid 28027822)
-
(1997)
Cell
, vol.91
, Issue.7
, pp. 875-879
-
-
Sharp, P.A.1
Burge, C.B.2
-
8
-
-
60149104260
-
Using profiles based on nucleotide hydrophobicity to define essential regions for splicing
-
Boldina G, Ivashchenko A, Regnier M (2009) Using profiles based on nucleotide hydrophobicity to define essential regions for splicing. Int J Biol Sci 5:13-19
-
(2009)
Int J Biol Sci
, vol.5
, pp. 13-19
-
-
Boldina, G.1
Ivashchenko, A.2
Regnier, M.3
-
9
-
-
66249120367
-
Human Splicing Finder: An online bioinformatics tool to predict splicing signals
-
Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
Beroud, C.6
-
10
-
-
0025321246
-
Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project
-
Senapathy P, Shapiro MB, Harris NL (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol 183:252-278 (Pubitemid 20148824)
-
(1990)
Methods in Enzymology
, vol.183
, pp. 252-278
-
-
Senapathy, P.1
Shapiro, M.B.2
Harris, N.L.3
-
11
-
-
42449129086
-
Human branch point consensus sequence is yUnAy
-
DOI 10.1093/nar/gkn073
-
Gao K, Masuda A, Matsuura T, Ohno K (2008) Human branch point consensus sequence is yUnAy. Nucleic Acids Res 36:2257-2267 (Pubitemid 351575093)
-
(2008)
Nucleic Acids Research
, vol.36
, Issue.7
, pp. 2257-2267
-
-
Gao, K.1
Masuda, A.2
Matsuura, T.3
Ohno, K.4
-
12
-
-
42449098125
-
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
-
DOI 10.1261/rna.876308
-
Wang Z, Burge CB (2008) Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 14:802-813 (Pubitemid 351574901)
-
(2008)
RNA
, vol.14
, Issue.5
, pp. 802-813
-
-
Wang, Z.1
Burge, C.B.2
-
14
-
-
36248977122
-
Global control of aberrant splice-site activation by auxiliary splicing sequences: Evidence for a gradient in exon and intron definition
-
DOI 10.1093/nar/gkm680
-
Kralovicova J, Vorechovsky I (2007) Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition. Nucleic Acids Res 35:6399-6413 (Pubitemid 350119565)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.19
, pp. 6399-6413
-
-
Kralovicova, J.1
Vorechovsky, I.2
-
15
-
-
42449129287
-
Searching for splicing motifs
-
Chasin LA (2007) Searching for splicing motifs. Adv Exp Med Biol 623:85-106
-
(2007)
Adv Exp Med Biol
, vol.623
, pp. 85-106
-
-
Chasin, L.A.1
-
17
-
-
42449152457
-
HnRNP proteins and splicing control
-
Martinez-Contreras R, Cloutier P, Shkreta L, Fisette JF, Revil T, Chabot B (2007) hnRNP proteins and splicing control. Adv Exp Med Biol 623:123-147
-
(2007)
Adv Exp Med Biol
, vol.623
, pp. 123-147
-
-
Martinez-Contreras, R.1
Cloutier, P.2
Shkreta, L.3
Fisette, J.F.4
Revil, T.5
Chabot, B.6
-
18
-
-
27944440915
-
Computational searches for splicing signals
-
DOI 10.1016/j.ymeth.2005.07.011, PII S1046202305001696, Post-transcriptional Regulation of Gene Expression
-
Zhang XH, Leslie CS, Chasin LA (2005) Computational searches for splicing signals. Methods 37:292-305 (Pubitemid 41682499)
-
(2005)
Methods
, vol.37
, Issue.4
, pp. 292-305
-
-
Zhang, X.H.-F.1
Leslie, C.S.2
Chasin, L.A.3
-
19
-
-
84903769542
-
-
Mohan RM (ed) Global Research Network, Kerala
-
Desmet FO, Hamroun D, Collod-Beroud G, Claustres M, Beroud, C (2010) In: Mohan RM (ed), Research advances in nucleic acids research, vol 1. Global Research Network, Kerala, pp 1-16
-
(2010)
Research Advances in Nucleic Acids Research
, vol.1
, pp. 1-16
-
-
Desmet, F.O.1
Hamroun, D.2
Collod-Beroud, G.3
Claustres, M.4
Beroud, C.5
-
20
-
-
46749098393
-
Evaluation of in silico splice tools for decision-making in molecular diagnosis
-
DOI 10.1002/humu.20765
-
Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pages-Berhouet S, d'Enghien CD, Lauge A, Castera L, Gauthier-Villars M et al (2008) Evaluation of in silico splice tools for decision-making in molecular diagnosis. Hum Mutat 29:975-982 (Pubitemid 351951292)
-
(2008)
Human Mutation
, vol.29
, Issue.7
, pp. 975-982
-
-
Houdayer, C.1
Dehainault, C.2
Mattler, C.3
Michaux, D.4
Caux-Moncoutier, V.5
Pages-Berhouet, S.6
D'Enghien, C.D.7
Lauge, A.8
Castera, L.9
Gauthier-Villars, M.10
Stoppa-Lyonnet, D.11
-
21
-
-
67849092454
-
SROOGLE: Webserver for integrative, user-friendly visualization of splicing signals
-
Schwartz S, Hall E, Ast G (2009) SROOGLE: webserver for integrative, user-friendly visualization of splicing signals. Nucleic Acids Res 37:W189-W192
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Schwartz, S.1
Hall, E.2
Ast, G.3
-
22
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
DOI 10.1093/nar/gkg616
-
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31:3568-3571 (Pubitemid 37442199)
-
(2003)
Nucleic Acids Research
, vol.31
, Issue.13
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
23
-
-
3242888697
-
RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons
-
DOI 10.1093/nar/gkh393
-
Fairbrother WG, Yeo GW, Yeh R, Goldstein P, Mawson M, Sharp PA, Burge CB (2004) RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons. Nucleic Acids Res 32:W187-W190 (Pubitemid 38997326)
-
(2004)
Nucleic Acids Research
, vol.32
, Issue.WEB SERVER ISS.
-
-
Fairbrother, W.G.1
Yeo, G.W.2
Yeh, R.3
Goldstein, P.4
Mawson, M.5
Sharp, P.A.6
Burge, C.B.7
-
24
-
-
2642513654
-
Silencer elements as possible inhibitors of pseudoexon splicing
-
DOI 10.1093/nar/gkh341
-
Sironi M, Menozzi G, Riva L, Cagliani R, Comi GP, Bresolin N, Giorda R, Pozzoli U (2004) Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res 32:1783-1791 (Pubitemid 38832723)
-
(2004)
Nucleic Acids Research
, vol.32
, Issue.5
, pp. 1783-1791
-
-
Sironi, M.1
Menozzi, G.2
Riva, L.3
Cagliani, R.4
Comi, G.P.5
Bresolin, N.6
Giorda, R.7
Pozzoli, U.8
-
25
-
-
10944256767
-
Systematic identification and analysis of exonic splicing silencers
-
DOI 10.1016/j.cell.2004.11.010, PII S0092867404010566
-
Wang Z, Rolish ME, Yeo G, Tung V, Mawson M, Burge CB (2004) Systematic identification and analysis of exonic splicing silencers. Cell 119:831-845 (Pubitemid 40017689)
-
(2004)
Cell
, vol.119
, Issue.6
, pp. 831-845
-
-
Wang, Z.1
Rolish, M.E.2
Yeo, G.3
Tung, V.4
Mawson, M.5
Burge, C.B.6
-
26
-
-
2642525438
-
Computational definition of sequence motifs governing constitutive exon splicing
-
DOI 10.1101/gad.1195304
-
Zhang XH, Chasin LA (2004) Computational definition of sequence motifs governing constitutive exon splicing. Genes Dev 18: 1241-1250 (Pubitemid 38720592)
-
(2004)
Genes and Development
, vol.18
, Issue.11
, pp. 1241-1250
-
-
Zhang, X.H.-F.1
Chasin, L.A.2
-
27
-
-
33745207758
-
Comparative analysis identifies exonic splicing regulatory sequences-the complex definition of enhancers and silencers
-
Goren A, Ram O, Amit M, Keren H, Lev-Maor G, Vig I, Pupko T, Ast G (2006) Comparative analysis identifies exonic splicing regulatory sequences - The complex definition of enhancers and silencers. Mol Cell 22:769-781
-
(2006)
Mol Cell
, vol.22
, pp. 769-781
-
-
Goren, A.1
Ram, O.2
Amit, M.3
Keren, H.4
Lev-Maor, G.5
Vig, I.6
Pupko, T.7
Ast, G.8
-
28
-
-
44449115151
-
RNA landscape of evolution for optimal exon and intron discrimination
-
DOI 10.1073/pnas.0801692105
-
Zhang C, Li WH, Krainer AR, Zhang MQ (2008) RNA landscape of evolution for optimal exon and intron discrimination. Proc Natl Acad Sci USA 105:5797-5802 (Pubitemid 351758452)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.15
, pp. 5797-5802
-
-
Zhang, C.1
Li, W.-H.2
Krainer, A.R.3
Zhang, M.Q.4
-
29
-
-
77949480756
-
Genomic features defining exonic variants that modulate splicing
-
Woolfe A, Mullikin JC, Elnitski L (2010) Genomic features defining exonic variants that modulate splicing. Genome Biol 11:R20
-
(2010)
Genome Biol
, vol.11
-
-
Woolfe, A.1
Mullikin, J.C.2
Elnitski, L.3
-
30
-
-
38149072338
-
Recommendations for locusspecific databases and their curation
-
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS et al (2008) Recommendations for locusspecific databases and their curation. Hum Mutat 29:2-5
-
(2008)
Hum Mutat
, vol.29
, pp. 2-5
-
-
Cotton, R.G.1
Auerbach, A.D.2
Beckmann, J.S.3
Blumenfeld, O.O.4
Brookes, A.J.5
Brown, A.F.6
Carrera, P.7
Cox, D.W.8
Gottlieb, B.9
Greenblatt, M.S.10
-
31
-
-
84859813185
-
-
Claustres M (ed) Research Signpost
-
Béroud C, Hamroun D, Collod-Beroud G, Humbertclaude V, Tuffery-Giraud S, Claustres M (2007) In: Claustres M (ed.) Molecular genetic analysis of rare diseases in 2007: selected examples, vol 1. Research Signpost, pp 135-150
-
(2007)
Molecular Genetic Analysis of Rare Diseases in 2007: Selected Examples
, vol.1
, pp. 135-150
-
-
Béroud, C.1
Hamroun, D.2
Collod-Beroud, G.3
Humbertclaude, V.4
Tuffery-Giraud, S.5
Claustres, M.6
-
32
-
-
0342545408
-
UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases
-
DOI 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4
-
Beroud C, Collod-Beroud G, Boileau C, Soussi T, Junien C (2000) UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 15:86-94 (Pubitemid 30036174)
-
(2000)
Human Mutation
, vol.15
, Issue.1
, pp. 86-94
-
-
Beroud, C.1
Collod-Beroud, G.2
Boileau, C.3
Soussi, T.4
Junien, C.5
-
33
-
-
22844452823
-
LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach
-
DOI 10.1002/humu.20201
-
Fokkema IF, den Dunnen JT, Taschner PE (2005) LOVD: easy creation of a locus-specific sequence variation database using an "LSDBin-a-box" approach. Hum Mutat 26:63-68 (Pubitemid 41040673)
-
(2005)
Human Mutation
, vol.26
, Issue.2
, pp. 63-68
-
-
Fokkema, I.F.A.C.1
Den Dunnen, J.T.2
Taschner, P.E.M.3
-
35
-
-
58149191270
-
-
(2009) The Universal Protein Resource (UniProt)
-
(2009) The Universal Protein Resource (UniProt) 2009. Nucleic Acids Res 37: D169-D174
-
(2009)
Nucleic Acids Res
, vol.37
-
-
-
36
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
DOI 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N
-
den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12 (Pubitemid 30036162)
-
(2000)
Human Mutation
, vol.15
, Issue.1
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
37
-
-
0036206069
-
Guidelines for human gene nomenclature
-
DOI 10.1006/geno.2002.6748
-
Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S (2002) Guidelines for human gene nomenclature. Genomics 79:464-470 (Pubitemid 34274283)
-
(2002)
Genomics
, vol.79
, Issue.4
, pp. 464-470
-
-
Wain, H.M.1
Bruford, E.A.2
Lovering, R.C.3
Lush, M.J.4
Wright, M.W.5
Povey, S.6
-
38
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
DOI 10.1089/1066527041410418
-
Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377-394 (Pubitemid 38901668)
-
(2004)
Journal of Computational Biology
, vol.11
, Issue.2-3
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
-
39
-
-
33846934728
-
Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
-
DOI 10.1002/humu.20400
-
Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN (2007) Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 28:150-158 (Pubitemid 46233312)
-
(2007)
Human Mutation
, vol.28
, Issue.2
, pp. 150-158
-
-
Krawczak, M.1
Thomas, N.S.T.2
Hundrieser, B.3
Mort, M.4
Wittig, M.5
Hampe, J.6
Cooper, D.N.7
-
40
-
-
0038931747
-
Coupling of signal transduction to alternative pre-mRNA splicing by a composite splice regulator
-
Konig H, Ponta H, Herrlich P (1998) Coupling of signal transduction to alternative pre-mRNA splicing by a composite splice regulator. EMBO J 17:2904-2913
-
(1998)
EMBO J
, vol.17
, pp. 2904-2913
-
-
Konig, H.1
Ponta, H.2
Herrlich, P.3
-
41
-
-
0037899998
-
New type of disease causing mutations: The example of the composite exonic regulatory elements of splicing in CFTR exon 12
-
DOI 10.1093/hmg/ddg131
-
Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE (2003) New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon. Hum Mol Genet 12:1111-1120 (Pubitemid 36622143)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.10
, pp. 1111-1120
-
-
Pagani, F.1
Stuani, C.2
Tzetis, M.3
Kanavakis, E.4
Efthymiadou, A.5
Doudounakis, S.6
Casals, T.7
Baralle, F.E.8
-
42
-
-
66449089588
-
Nonsense-mediated decay: Linking a basic cellular process to human disease
-
Bashyam MD (2009) Nonsense-mediated decay: linking a basic cellular process to human disease. Expert Rev Mol Diagn 9:299-303
-
(2009)
Expert Rev Mol Diagn
, vol.9
, pp. 299-303
-
-
Bashyam, M.D.1
-
43
-
-
0034672093
-
The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions
-
DOI 10.1093/emboj/19.24.6860
-
Le Hir H, Izaurralde E, Maquat LE, Moore MJ (2000) The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J 19:6860-6869 (Pubitemid 32011679)
-
(2000)
EMBO Journal
, vol.19
, Issue.24
, pp. 6860-6869
-
-
Le Hir, H.1
Izaurralde, E.2
Maquat, L.E.3
Moore, M.J.4
-
44
-
-
38149063754
-
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
-
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE (2008) Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6-13
-
(2008)
Hum Mutat
, vol.29
, pp. 6-13
-
-
Wildeman, M.1
Van Ophuizen, E.2
Den Dunnen, J.T.3
Taschner, P.E.4
-
45
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90-95
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
Moser, H.4
Kunkel, L.M.5
-
46
-
-
38149091561
-
Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients
-
Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW et al (2008) Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 29:190-197
-
(2008)
Hum Mutat
, vol.29
, pp. 190-197
-
-
Zeng, F.1
Ren, Z.R.2
Huang, S.Z.3
Kalf, M.4
Mommersteeg, M.5
Smit, M.6
White, S.7
Jin, C.L.8
Xu, M.9
Zhou, D.W.10
-
47
-
-
59049088093
-
Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay
-
Wildforster V, Dekomien G (2009) Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay. Mol Cell Probes 23:55-59
-
(2009)
Mol Cell Probes
, vol.23
, pp. 55-59
-
-
Wildforster, V.1
Dekomien, G.2
-
48
-
-
19944418773
-
Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA
-
DOI 10.1073/pnas.0407979101
-
Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS et al (2004) Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 101:17765-17770 (Pubitemid 40051961)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.51
, pp. 17765-17770
-
-
Barrett, M.T.1
Scheffer, A.2
Ben-Dor, A.3
Sampas, N.4
Lipson, D.5
Kincaid, R.6
Tsang, P.7
Curry, B.8
Baird, K.9
Meltzer, P.S.10
Yakhini, Z.11
Bruhn, L.12
Laderman, S.13
-
49
-
-
33846924058
-
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
-
DOI 10.1002/humu.20428
-
Beroud C, Tuffery-Giraud S, Matsuo M, Hamroun D, Humbertclaude V, Monnier N, Moizard MP, Voelckel MA, Calemard LM, Boisseau P et al (2007) Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat 28:196-202 (Pubitemid 46233317)
-
(2007)
Human Mutation
, vol.28
, Issue.2
, pp. 196-202
-
-
Beroud, C.1
Tuffery-Giraud, S.2
Matsuo, M.3
Hamroun, D.4
Humbertclaude, V.5
Monnier, N.6
Moizard, M.-P.7
Voelckel, M.-A.8
Calemard, L.M.9
Boisseau, P.10
Blayau, M.11
Philippe, C.12
Cossee, M.13
Pages, M.14
Rivier, F.15
Danos, O.16
Garcia, L.17
Claustres, M.18
-
50
-
-
33646082014
-
Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy
-
DOI 10.1212/01.wnl.0000204358.89303.81, PII 0000611420060411000035
-
Sinnreich M, Therrien C, Karpati G (2006) Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Neurology 66:1114-1116 (Pubitemid 44044807)
-
(2006)
Neurology
, vol.66
, Issue.7
, pp. 1114-1116
-
-
Sinnreich, M.1
Therrien, C.2
Karpati, G.3
-
51
-
-
75149170176
-
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping
-
Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforet P, Behin A, Butler-Browne G, Mouly V, Krahn M et al (2010) Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat 31:136-142
-
(2010)
Hum Mutat
, vol.31
, pp. 136-142
-
-
Wein, N.1
Avril, A.2
Bartoli, M.3
Beley, C.4
Chaouch, S.5
Laforet, P.6
Behin, A.7
Butler-Browne, G.8
Mouly, V.9
Krahn, M.10
-
52
-
-
70350613227
-
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter
-
Borzutzky A, Crompton B, Bergmann AK, Giliani S, Baxi S, Martin M, Neufeld EJ, Notarangelo LD (2009) Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol 133:287-294
-
(2009)
Clin Immunol
, vol.133
, pp. 287-294
-
-
Borzutzky, A.1
Crompton, B.2
Bergmann, A.K.3
Giliani, S.4
Baxi, S.5
Martin, M.6
Neufeld, E.J.7
Notarangelo, L.D.8
-
53
-
-
66249138829
-
Genetic diagnosis of familial hypercholesterolaemia: The importance of functional analysis of potential splice-site mutations
-
Bourbon M, Duarte MA, Alves AC, Medeiros AM, Marques L, Soutar AK (2009) Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. J Med Genet 46:352-357
-
(2009)
J Med Genet
, vol.46
, pp. 352-357
-
-
Bourbon, M.1
Duarte, M.A.2
Alves, A.C.3
Medeiros, A.M.4
Marques, L.5
Soutar, A.K.6
-
54
-
-
69749104946
-
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing
-
Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD (2009) ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet 46:620-625
-
(2009)
J Med Genet
, vol.46
, pp. 620-625
-
-
Burgess, R.1
MacLaren, R.E.2
Davidson, A.E.3
Urquhart, J.E.4
Holder, G.E.5
Robson, A.G.6
Moore, A.T.7
Keefe, R.O.8
Black, G.C.9
Manson, F.D.10
-
55
-
-
61949292897
-
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing
-
Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ (2009) Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Hepatology 49:553-567
-
(2009)
Hepatology
, vol.49
, pp. 553-567
-
-
Byrne, J.A.1
Strautnieks, S.S.2
Ihrke, G.3
Pagani, F.4
Knisely, A.S.5
Linton, K.J.6
Mieli-Vergani, G.7
Thompson, R.J.8
-
56
-
-
67650865957
-
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families
-
Cotarelo RP, Fano O, Raducu M, Pena A, Tarilonte P, Mateos F, Simon R, Cabello A, Cruces J (2009) A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. Clin Genet 76:108-112
-
(2009)
Clin Genet
, vol.76
, pp. 108-112
-
-
Cotarelo, R.P.1
Fano, O.2
Raducu, M.3
Pena, A.4
Tarilonte, P.5
Mateos, F.6
Simon, R.7
Cabello, A.8
Cruces, J.9
-
57
-
-
62149087350
-
Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
-
Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G et al (2009) Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. FEBS J 276:2048-2059
-
(2009)
FEBS J
, vol.276
, pp. 2048-2059
-
-
Daniele, A.1
Scala, I.2
Cardillo, G.3
Pennino, C.4
Ungaro, C.5
Sibilio, M.6
Parenti, G.7
Esposito, L.8
Zagari, A.9
Andria, G.10
-
58
-
-
58149330129
-
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia
-
Di Leo E, Magnolo L, Pinotti E, Martini S, Cortella I, Vitturi N, Rabacchi C, Wunsch A, Pucci F, Bertolini S et al (2009) Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. Mol Genet Metab 96:66-72
-
(2009)
Mol Genet Metab
, vol.96
, pp. 66-72
-
-
Di Leo, E.1
Magnolo, L.2
Pinotti, E.3
Martini, S.4
Cortella, I.5
Vitturi, N.6
Rabacchi, C.7
Wunsch, A.8
Pucci, F.9
Bertolini, S.10
-
59
-
-
72949119546
-
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2
-
Fogel BL, Lee JY, Perlman S (2009) Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2. Cerebellum 8:448-453
-
(2009)
Cerebellum
, vol.8
, pp. 448-453
-
-
Fogel, B.L.1
Lee, J.Y.2
Perlman, S.3
-
60
-
-
70449522888
-
Autosomal recessive inheritance of classic Bethlem myopathy
-
Foley AR, Hu Y, Zou Y, Columbus A, Shoffner J, Dunn DM, Weiss RB, Bonnemann CG (2009) Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord 19:813-817
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 813-817
-
-
Foley, A.R.1
Hu, Y.2
Zou, Y.3
Columbus, A.4
Shoffner, J.5
Dunn, D.M.6
Weiss, R.B.7
Bonnemann, C.G.8
-
61
-
-
68149156574
-
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
-
Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH et al (2009) Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet 46:562-568
-
(2009)
J Med Genet
, vol.46
, pp. 562-568
-
-
Furuichi, T.1
Kayserili, H.2
Hiraoka, S.3
Nishimura, G.4
Ohashi, H.5
Alanay, Y.6
Lerena, J.C.7
Aslanger, A.D.8
Koseki, H.9
Cohn, D.H.10
-
62
-
-
60749118005
-
A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon
-
Goncalves V, Theisen P, Antunes O, Medeira A, Ramos JS, Jordan P, Isidro G (2009) A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon. Mutat Res 662:33-36
-
(2009)
Mutat Res
, vol.662
, pp. 33-36
-
-
Goncalves, V.1
Theisen, P.2
Antunes, O.3
Medeira, A.4
Ramos, J.S.5
Jordan, P.6
Isidro, G.7
-
63
-
-
67649574728
-
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2
-
Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A et al (2009) Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet 85:120-129
-
(2009)
Am J Hum Genet
, vol.85
, pp. 120-129
-
-
Guernsey, D.L.1
Jiang, H.2
Evans, S.C.3
Ferguson, M.4
Matsuoka, M.5
Nightingale, M.6
Rideout, A.L.7
Provost, S.8
Bedard, K.9
Orr, A.10
-
64
-
-
68049140778
-
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1 G→A mutations in introns of the dystrophin gene
-
Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M (2009) In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1 G→A mutations in introns of the dystrophin gene. J Med Genet 46:542-547
-
(2009)
J Med Genet
, vol.46
, pp. 542-547
-
-
Habara, Y.1
Takeshima, Y.2
Awano, H.3
Okizuka, Y.4
Zhang, Z.5
Saiki, K.6
Yagi, M.7
Matsuo, M.8
-
65
-
-
67849129006
-
The effect of disease-associated HRPT2 mutations on splicing
-
Hahn MA, McDonnell J, Marsh DJ (2009) The effect of disease-associated HRPT2 mutations on splicing. J Endocrinol 201:387-396
-
(2009)
J Endocrinol
, vol.201
, pp. 387-396
-
-
Hahn, M.A.1
McDonnell, J.2
Marsh, D.J.3
-
66
-
-
65349101670
-
Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families
-
Zhao L, Liang T, Xu J, Lin H, Li D, Qi Y (2009) Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families. Mol Vis 15:826-832
-
(2009)
Mol Vis
, vol.15
, pp. 826-832
-
-
Zhao, L.1
Liang, T.2
Xu, J.3
Lin, H.4
Li, D.5
Qi, Y.6
-
67
-
-
58749088569
-
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1
-
Zeevaert R, Foulquier F, Dimitrov B, Reynders E, Van Damme-Lombaerts R, Simeonov E, Annaert W, Matthijs G, Jaeken J (2009) Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. Hum Mol Genet 18:517-524
-
(2009)
Hum Mol Genet
, vol.18
, pp. 517-524
-
-
Zeevaert, R.1
Foulquier, F.2
Dimitrov, B.3
Reynders, E.4
Van Damme-Lombaerts, R.5
Simeonov, E.6
Annaert, W.7
Matthijs, G.8
Jaeken, J.9
-
68
-
-
67349178347
-
Hermansky-Pudlak syndrome type 1 in patients of Indian descent
-
Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA (2009) Hermansky-Pudlak syndrome type 1 in patients of Indian descent. Mol Genet Metab 97:227-233
-
(2009)
Mol Genet Metab
, vol.97
, pp. 227-233
-
-
Vincent, L.M.1
Adams, D.2
Hess, R.A.3
Ziegler, S.G.4
Tsilou, E.5
Golas, G.6
O'Brien, K.J.7
White, J.G.8
Huizing, M.9
Gahl, W.A.10
-
69
-
-
66749140994
-
Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia
-
Vega AI, Perez-Cerda C, Desviat LR, Matthijs G, Ugarte M, Perez B (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat 30:795-803
-
(2009)
Hum Mutat
, vol.30
, pp. 795-803
-
-
Vega, A.I.1
Perez-Cerda, C.2
Desviat, L.R.3
Matthijs, G.4
Ugarte, M.5
Perez, B.6
-
70
-
-
66349130438
-
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
-
Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A 149A:1263-1267
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1263-1267
-
-
Thiel, C.1
Wilken, M.2
Zenker, M.3
Sticht, H.4
Fahsold, R.5
Gusek-Schneider, G.C.6
Rauch, A.7
-
71
-
-
59149093649
-
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
-
Taanman JW, Daras M, Albrecht J, Davie CA, Mallam EA, Muddle JR, Weatherall M, Warner TT, Schapira AH, Ginsberg L (2009) Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Neuromuscul Disord 19:151-154
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 151-154
-
-
Taanman, J.W.1
Daras, M.2
Albrecht, J.3
Davie, C.A.4
Mallam, E.A.5
Muddle, J.R.6
Weatherall, M.7
Warner, T.T.8
Schapira, A.H.9
Ginsberg, L.10
-
72
-
-
72549101174
-
A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): Specific exon skipping could be a prognostic factor for DDEB pruriginosa
-
Saito M, Masunaga T, Ishiko A (2009) A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa. Clin Exp Dermatol 34:e934-e936
-
(2009)
Clin Exp Dermatol
, vol.34
-
-
Saito, M.1
Masunaga, T.2
Ishiko, A.3
-
73
-
-
60549087753
-
Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease
-
Rhyne J, Mantaring MM, Gardner DF, Miller M (2009) Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease. BMC Med Genet 10:1
-
(2009)
BMC Med Genet
, vol.10
, pp. 1
-
-
Rhyne, J.1
Mantaring, M.M.2
Gardner, D.F.3
Miller, M.4
-
74
-
-
69549086428
-
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism
-
Qiao J, Han B, Liu BL, Chen X, Ru Y, Cheng KX, Chen FG, Zhao SX, Liang J, Lu YL et al (2009) A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. Hum Mutat 30:E855-E865
-
(2009)
Hum Mutat
, vol.30
-
-
Qiao, J.1
Han, B.2
Liu, B.L.3
Chen, X.4
Ru, Y.5
Cheng, K.X.6
Chen, F.G.7
Zhao, S.X.8
Liang, J.9
Lu, Y.L.10
-
75
-
-
66349127106
-
Identification and molecular characterization of six novel mutations in the UDP-Nacetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma
-
Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S et al (2009) Identification and molecular characterization of six novel mutations in the UDP-Nacetylglucosamine- 1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Hum Mutat 30:978-984
-
(2009)
Hum Mutat
, vol.30
, pp. 978-984
-
-
Persichetti, E.1
Chuzhanova, N.A.2
Dardis, A.3
Tappino, B.4
Pohl, S.5
Thomas, N.S.6
Rosano, C.7
Balducci, C.8
Paciotti, S.9
Dominissini, S.10
-
76
-
-
73149094074
-
Beta-spectrinBari: A truncated beta-chain responsible for dominant hereditary spherocytosis
-
Perrotta S, Della Ragione F, Rossi F, Avvisati RA, Di Pinto D, De Mieri G, Scianguetta S, Mancusi S, De Falco L, Marano V et al (2009) Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. Haematologica 94:1753-1757
-
(2009)
Haematologica
, vol.94
, pp. 1753-1757
-
-
Perrotta, S.1
Della Ragione, F.2
Rossi, F.3
Avvisati, R.A.4
Di Pinto, D.5
De Mieri, G.6
Scianguetta, S.7
Mancusi, S.8
De Falco, L.9
Marano, V.10
-
77
-
-
59449107280
-
Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2
-
Pelucchi S, Mariani R, Trombini P, Coletti S, Pozzi M, Paolini V, Barisani D, Piperno A (2009) Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. Haematologica 94:276-279
-
(2009)
Haematologica
, vol.94
, pp. 276-279
-
-
Pelucchi, S.1
Mariani, R.2
Trombini, P.3
Coletti, S.4
Pozzi, M.5
Paolini, V.6
Barisani, D.7
Piperno, A.8
-
78
-
-
73249143488
-
Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria
-
Parera VE, Koole RH, Minderman G, Edixhoven A, Rossetti MV, Batlle A, de Rooij FW (2009) Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria. Mol Med 15:425-431
-
(2009)
Mol Med
, vol.15
, pp. 425-431
-
-
Parera, V.E.1
Koole, R.H.2
Minderman, G.3
Edixhoven, A.4
Rossetti, M.V.5
Batlle, A.6
De Rooij, F.W.7
-
79
-
-
70350155017
-
In vivo and in vitro splicing assay of SLC12A1 in an antenatal saltlosing tubulopathy patient with an intronic mutation
-
Nozu K, Iijima K, Kawai K, Nozu Y, Nishida A, Takeshima Y, Fu XJ, Hashimura Y, Kaito H, Nakanishi K et al (2009) In vivo and in vitro splicing assay of SLC12A1 in an antenatal saltlosing tubulopathy patient with an intronic mutation. Hum Genet 126:533-538
-
(2009)
Hum Genet
, vol.126
, pp. 533-538
-
-
Nozu, K.1
Iijima, K.2
Kawai, K.3
Nozu, Y.4
Nishida, A.5
Takeshima, Y.6
Fu, X.J.7
Hashimura, Y.8
Kaito, H.9
Nakanishi, K.10
-
80
-
-
73249114511
-
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
-
Niu DM, Hsu JH, Chong KW, Huang CH, Lu YH, Kao CH, Yu HC, Lo MY, Jap TS (2009) Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis. J Clin Endocrinol Metab 94:5045-5052
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 5045-5052
-
-
Niu, D.M.1
Hsu, J.H.2
Chong, K.W.3
Huang, C.H.4
Lu, Y.H.5
Kao, C.H.6
Yu, H.C.7
Lo, M.Y.8
Jap, T.S.9
-
81
-
-
66749094790
-
Identification and characterization of novel collagen VI noncanonical splicing mutations causing Ullrich congenital muscular dystrophy
-
Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E et al (2009) Identification and characterization of novel collagen VI noncanonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat 30:E662-E672
-
(2009)
Hum Mutat
, vol.30
-
-
Martoni, E.1
Urciuolo, A.2
Sabatelli, P.3
Fabris, M.4
Bovolenta, M.5
Neri, M.6
Grumati, P.7
D'Amico, A.8
Pane, M.9
Mercuri, E.10
-
82
-
-
72949091917
-
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene
-
Kanda K, Nozu K, Yokoyama N, Morioka I, Miwa A, Hashimura Y, Kaito H, Iijima K, Matsuo M (2009) Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene. BMC Nephrol 10:37
-
(2009)
BMC Nephrol
, vol.10
, pp. 37
-
-
Kanda, K.1
Nozu, K.2
Yokoyama, N.3
Morioka, I.4
Miwa, A.5
Hashimura, Y.6
Kaito, H.7
Iijima, K.8
Matsuo, M.9
-
83
-
-
57349094003
-
A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy
-
Jelani M, Salman Chishti M, Ahmad W (2009) A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy. Clin Exp Dermatol 34:68-73
-
(2009)
Clin Exp Dermatol
, vol.34
, pp. 68-73
-
-
Jelani, M.1
Salman Chishti, M.2
Ahmad, W.3
-
84
-
-
61849159311
-
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
-
Holla OL, Nakken S, Mattingsdal M, Ranheim T, Berge KE, Defesche JC, Leren TP (2009) Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: comparison of wet-lab and bioinformatics analyses. Mol Genet Metab 96:245-252
-
(2009)
Mol Genet Metab
, vol.96
, pp. 245-252
-
-
Holla, O.L.1
Nakken, S.2
Mattingsdal, M.3
Ranheim, T.4
Berge, K.E.5
Defesche, J.C.6
Leren, T.P.7
-
85
-
-
65449151841
-
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas
-
Heinritz W, Huffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG (2009) New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. Ann Hum Genet 73:283-291
-
(2009)
Ann Hum Genet
, vol.73
, pp. 283-291
-
-
Heinritz, W.1
Huffmeier, U.2
Strenge, S.3
Miterski, B.4
Zweier, C.5
Leinung, S.6
Bohring, A.7
Mitulla, B.8
Peters, U.9
Froster, U.G.10
|