-
1
-
-
0028127041
-
Ectodermal dysplasias: a clinical classification and a causal review
-
10.1002/ajmg.1320530207, 7856640
-
Pinheiro M, Freire M. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994, 53:153-162. 10.1002/ajmg.1320530207, 7856640.
-
(1994)
Am J Med Genet
, vol.53
, pp. 153-162
-
-
Pinheiro, M.1
Freire, M.2
-
2
-
-
0029285779
-
Hypohidrotic ectodermal dysplasia: characteristics and treatment
-
Kupietzky A, Houpt M. Hypohidrotic ectodermal dysplasia: characteristics and treatment. Quintessence Int 1995, 26:285-291.
-
(1995)
Quintessence Int
, vol.26
, pp. 285-291
-
-
Kupietzky, A.1
Houpt, M.2
-
3
-
-
0030833393
-
Cloning of Tabby, the murine homolog of the human EDA gene: evidence for amembraneassociated protein with a short collagenous domain
-
10.1093/hmg/6.9.1589, 9285798
-
Ferguson BM, Brockdorff N, Formstone E, Ngyuen T, Kronmiller JE, Zonana J. Cloning of Tabby, the murine homolog of the human EDA gene: evidence for amembraneassociated protein with a short collagenous domain. Hum Mol Genet 1997, 6:1589-1594. 10.1093/hmg/6.9.1589, 9285798.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1589-1594
-
-
Ferguson, B.M.1
Brockdorff, N.2
Formstone, E.3
Ngyuen, T.4
Kronmiller, J.E.5
Zonana, J.6
-
4
-
-
74049106552
-
Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs
-
10.1111/j.1601-6343.2009.01473.x, 2808637, 20078794
-
Lewis JR, Reiter AM, Mauldin EA, Casal ML. Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. Orthod Craniofac Res 2010, 13(1):40-7. 10.1111/j.1601-6343.2009.01473.x, 2808637, 20078794.
-
(2010)
Orthod Craniofac Res
, vol.13
, Issue.1
, pp. 40-47
-
-
Lewis, J.R.1
Reiter, A.M.2
Mauldin, E.A.3
Casal, M.L.4
-
5
-
-
0034756444
-
Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle
-
10.1101/gr.182501, 311120, 11591646
-
Drögemüller C, Distl O, Leeb T. Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. Genome Res 2001, 11(10):1699-705. 10.1101/gr.182501, 311120, 11591646.
-
(2001)
Genome Res
, vol.11
, Issue.10
, pp. 1699-1705
-
-
Drögemüller, C.1
Distl, O.2
Leeb, T.3
-
6
-
-
34249824253
-
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia
-
Tariq M, Wasif N, Ayub M, Ahmad W. A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. Eur J Dermatol 2007, 17(3):209-12.
-
(2007)
Eur J Dermatol
, vol.17
, Issue.3
, pp. 209-212
-
-
Tariq, M.1
Wasif, N.2
Ayub, M.3
Ahmad, W.4
-
7
-
-
78650427945
-
Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
-
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Merrer ML, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 2010, 32:70-77.
-
(2010)
Hum Mutat
, vol.32
, pp. 70-77
-
-
Cluzeau, C.1
Hadj-Rabia, S.2
Jambou, M.3
Mansour, S.4
Guigue, P.5
Masmoudi, S.6
Bal, E.7
Chassaing, N.8
Vincent, M.C.9
Viot, G.10
Clauss, F.11
Manière, M.C.12
Toupenay, S.13
Merrer, M.L.14
Lyonnet, S.15
Cormier-Daire, V.16
Amiel, J.17
Faivre, L.18
de Prost, Y.19
Munnich, A.20
Bonnefont, J.P.21
Bodemer, C.22
Smahi, A.23
more..
-
8
-
-
61549114324
-
Anhidrotic ectodermal dysplasia. Report of a rare mutation in EDA1
-
10.1016/j.annder.2008.04.018, 19171226
-
Tomb R, Soutou B, Zalloua P. Anhidrotic ectodermal dysplasia. Report of a rare mutation in EDA1. Ann Dermatol Venereol 2009, 136(1):28-31. 10.1016/j.annder.2008.04.018, 19171226.
-
(2009)
Ann Dermatol Venereol
, vol.136
, Issue.1
, pp. 28-31
-
-
Tomb, R.1
Soutou, B.2
Zalloua, P.3
-
9
-
-
12644310324
-
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
-
10.1073/pnas.94.24.13069, 24264, 9371801
-
Srivastava AK, Pispa J, Hartung AJ, Du Y, Ezer S, Jenks T, Shimada T, Pekkanen M, Mikkola ML, Ko MS, Thesleff I, Kere J, Schlessinger D. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci USA 1997, 94(24):13069-74. 10.1073/pnas.94.24.13069, 24264, 9371801.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, Issue.24
, pp. 13069-13074
-
-
Srivastava, A.K.1
Pispa, J.2
Hartung, A.J.3
Du, Y.4
Ezer, S.5
Jenks, T.6
Shimada, T.7
Pekkanen, M.8
Mikkola, M.L.9
Ko, M.S.10
Thesleff, I.11
Kere, J.12
Schlessinger, D.13
-
10
-
-
0034938390
-
Assignment of the bovine ectodysplasin A gene (ED1) to bovine Xq22 q24 by fluorescence in situ hybridization
-
10.1159/000056932, 11435717
-
Kuiper H, Kutschke L, Drögemüller C, Leeb T, Distl O. Assignment of the bovine ectodysplasin A gene (ED1) to bovine Xq22 q24 by fluorescence in situ hybridization. Cytogenet Cell Genet 2001, 92(3-4):356-7. 10.1159/000056932, 11435717.
-
(2001)
Cytogenet Cell Genet
, vol.92
, Issue.3-4
, pp. 356-357
-
-
Kuiper, H.1
Kutschke, L.2
Drögemüller, C.3
Leeb, T.4
Distl, O.5
-
11
-
-
0036012801
-
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle
-
10.1007/s00109-002-0320-z, 12021844
-
Drögemüller C, Peters M, Pohlenz J, Distl O, Leeb T. A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. J Mol Med 2002, 80(5):319-23. 10.1007/s00109-002-0320-z, 12021844.
-
(2002)
J Mol Med
, vol.80
, Issue.5
, pp. 319-323
-
-
Drögemüller, C.1
Peters, M.2
Pohlenz, J.3
Distl, O.4
Leeb, T.5
-
12
-
-
33845565756
-
A novel mutation in the bovine EDA gene causing anhidrotic ectodermal displasia
-
Drögemüller C, Barlund CS, Palmer CW, Leeb T. A novel mutation in the bovine EDA gene causing anhidrotic ectodermal displasia. Arch Tierz Dummerstorf 2006, 49:615-616.
-
(2006)
Arch Tierz Dummerstorf
, vol.49
, pp. 615-616
-
-
Drögemüller, C.1
Barlund, C.S.2
Palmer, C.W.3
Leeb, T.4
-
13
-
-
80255122657
-
Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle
-
Karlskov-Mortensen P, Cirera S, Nielsen L, Arnbjerg J, Reibel J, Fredholm M, Agerholm JS. Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle. Anim Genet 2011,
-
(2011)
Anim Genet
-
-
Karlskov-Mortensen, P.1
Cirera, S.2
Nielsen, L.3
Arnbjerg, J.4
Reibel, J.5
Fredholm, M.6
Agerholm, J.S.7
-
14
-
-
66249120367
-
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
-
10.1093/nar/gkp215, 2685110, 19339519
-
Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009, 37(9):e67. 10.1093/nar/gkp215, 2685110, 19339519.
-
(2009)
Nucleic Acids Res
, vol.37
, Issue.9
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Béroud, G.4
Claustres, M.5
Béroud, C.6
-
15
-
-
0242522413
-
Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers
-
10.1086/378819, 1180494, 14526391
-
Gorlov IP, Gorlova OY, Frazier ML, Amos CI. Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers. Am J Hum Genet 2003, 73:1157-1161. 10.1086/378819, 1180494, 14526391.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1157-1161
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
. Frazier, M.L.3
Amos, C.I.4
-
16
-
-
77949480756
-
Genomic features defining exonic variants that modulate splicing
-
10.1186/gb-2010-11-2-r20, 2872880, 20158892
-
Woolfe A, Mullikin JC, Elnitski L. Genomic features defining exonic variants that modulate splicing. Genome Biol 2010, 11(2):R20. 10.1186/gb-2010-11-2-r20, 2872880, 20158892.
-
(2010)
Genome Biol
, vol.11
, Issue.2
-
-
Woolfe, A.1
Mullikin, J.C.2
Elnitski, L.3
-
17
-
-
58249093940
-
The SR protein family of splicing factors: master regulators of gene expression
-
10.1042/BJ20081501, 19061484
-
Long JC, Caceres JF. The SR protein family of splicing factors: master regulators of gene expression. Biochem J 2009, 417(1):15-27. 10.1042/BJ20081501, 19061484.
-
(2009)
Biochem J
, vol.417
, Issue.1
, pp. 15-27
-
-
Long, J.C.1
Caceres, J.F.2
-
18
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
10.1038/ng854, 11925564
-
Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002, 30(4):377-84. 10.1038/ng854, 11925564.
-
(2002)
Nat Genet
, vol.30
, Issue.4
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
19
-
-
0013394889
-
Mechanisms of alternative pre-messenger RNA splicing
-
10.1146/annurev.biochem.72.121801.161720, 12626338
-
Black DL. Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 2003, 72:291-336. 10.1146/annurev.biochem.72.121801.161720, 12626338.
-
(2003)
Annu Rev Biochem
, vol.72
, pp. 291-336
-
-
Black, D.L.1
-
20
-
-
70450184788
-
Splicing, cis genetic variation and disease
-
10.1042/BST0371311, 19909267
-
Jensen CJ, Oldfield BJ, Rubio JP. Splicing, cis genetic variation and disease. Biochem Soc Trans 2009, 37(6):1311-5. 10.1042/BST0371311, 19909267.
-
(2009)
Biochem Soc Trans
, vol.37
, Issue.6
, pp. 1311-1315
-
-
Jensen, C.J.1
Oldfield, B.J.2
Rubio, J.P.3
-
21
-
-
77954351642
-
Impairment of pre-mRNA splicing in liver disease: mechanisms and consequences
-
10.3748/wjg.v16.i25.3091, 2896746, 20593494
-
Berasain C, Goñi S, Castillo J, Latasa MU, Prieto J, Avila MA. Impairment of pre-mRNA splicing in liver disease: mechanisms and consequences. World J Gastroenterol 2010, 16(25):3091-102. 10.3748/wjg.v16.i25.3091, 2896746, 20593494.
-
(2010)
World J Gastroenterol
, vol.16
, Issue.25
, pp. 3091-3102
-
-
Berasain, C.1
Goñi, S.2
Castillo, J.3
Latasa, M.U.4
Prieto, J.5
Avila, M.A.6
-
22
-
-
64849109747
-
A computational approach for genome-wide mapping of splicing factor binding sites
-
10.1186/gb-2009-10-3-r30, 2691001, 19296853
-
Akerman M, David-Eden H, Pinter RY, Mandel-Gutfreund Y. A computational approach for genome-wide mapping of splicing factor binding sites. Genome Biol 2009, 10(3):R30. 10.1186/gb-2009-10-3-r30, 2691001, 19296853.
-
(2009)
Genome Biol
, vol.10
, Issue.3
-
-
Akerman, M.1
David-Eden, H.2
Pinter, R.Y.3
Mandel-Gutfreund, Y.4
-
23
-
-
42449159377
-
SR proteins and related factors in alternative splicing
-
10.1007/978-0-387-77374-2_7, 18380343
-
Lin S, Fu XD. SR proteins and related factors in alternative splicing. Adv Exp Med Biol 2007, 623:107-22. 10.1007/978-0-387-77374-2_7, 18380343.
-
(2007)
Adv Exp Med Biol
, vol.623
, pp. 107-122
-
-
Lin, S.1
Fu, X.D.2
-
24
-
-
77954657584
-
A novel mutation (c.951C > T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene
-
10.1016/j.ymgme.2010.03.012, 20488739
-
Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N. A novel mutation (c.951C > T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab 2010, 100(4):339-44. 10.1016/j.ymgme.2010.03.012, 20488739.
-
(2010)
Mol Genet Metab
, vol.100
, Issue.4
, pp. 339-344
-
-
Fukao, T.1
Horikawa, R.2
Naiki, Y.3
Tanaka, T.4
Takayanagi, M.5
Yamaguchi, S.6
Kondo, N.7
-
25
-
-
38849189264
-
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer
-
10.1016/j.ymgme.2007.09.020, 18023225
-
Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M. Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer. Mol Genet Metab 2008, 93(3):323-30. 10.1016/j.ymgme.2007.09.020, 18023225.
-
(2008)
Mol Genet Metab
, vol.93
, Issue.3
, pp. 323-330
-
-
Boichard, A.1
Venet, L.2
Naas, T.3
Boutron, A.4
Chevret, L.5
de Baulny, H.O.6
De Lonlay, P.7
Legrand, A.8
Nordman, P.9
Brivet, M.10
-
26
-
-
0036171787
-
An exon splice enhancer mutation causes autosomal dominant GH deficiency
-
10.1210/jc.87.2.847, 11836331
-
Moseley CT, Mullis PE, Prince MA, Phillips JA. An exon splice enhancer mutation causes autosomal dominant GH deficiency. J Clin Endocrinol Metab 2002, 87(2):847-52. 10.1210/jc.87.2.847, 11836331.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, Issue.2
, pp. 847-852
-
-
Moseley, C.T.1
Mullis, P.E.2
Prince, M.A.3
Phillips, J.A.4
-
27
-
-
0002051540
-
BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT
-
Hall TA. BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Ser 1999, 41:95-98.
-
(1999)
Nucl Acids Symp Ser
, vol.41
, pp. 95-98
-
-
Hall, T.A.1
|