-
1
-
-
34347171169
-
Über Vererbung von Farbe und Zeichnung bei dem Kaninchen
-
Pap E (1921) Über Vererbung von Farbe und Zeichnung bei dem Kaninchen. Z Indukt Abstamm Vererbungsl 26: 185-270.
-
(1921)
Z Indukt Abstamm Vererbungsl
, vol.26
, pp. 185-270
-
-
Pap, E.1
-
2
-
-
0019562443
-
Morphologic basis of inherited coat-color dilutions of cats
-
PubMed: 7276525
-
Prieur DJ, Collier LL (1981) Morphologic basis of inherited coat-color dilutions of cats. J Hered 72: 178-182. PubMed: 7276525.
-
(1981)
J Hered
, vol.72
, pp. 178-182
-
-
Prieur, D.J.1
Collier, L.L.2
-
3
-
-
39549107341
-
A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken
-
doi:10.1186/1471-2156-9-7. PubMed: 18197963
-
Vaez M, Follett SA, Bed'hom B, Gourichon D, Tixier-Boichard M et al. (2008) A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken. BMC Genet 9: 7. doi:10.1186/1471-2156-9-7. PubMed: 18197963.
-
(2008)
BMC Genet
, vol.9
, pp. 7
-
-
Vaez, M.1
Follett, S.A.2
Bed'Hom, B.3
Gourichon, D.4
Tixier-Boichard, M.5
-
4
-
-
70449435654
-
Plumage colour mutations and melanins in the feathers of the Japanese quail: A first comparison
-
doi:10.1111/j.1365-2052.2009.01929.x. PubMed: 19496774
-
Minvielle F, Cecchi T, Passamonti P, Gourichon D, Renieri C (2009) Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison. Anim Genet 40: 971-974. doi:10.1111/j.1365-2052.2009.01929.x. PubMed: 19496774.
-
(2009)
Anim Genet
, vol.40
, pp. 971-974
-
-
Minvielle, F.1
Cecchi, T.2
Passamonti, P.3
Gourichon, D.4
Renieri, C.5
-
5
-
-
0041640344
-
A quantitative histological study of the pigment found in the coat color mutants of the house mouse. II. Estimates of the total volume of pigment
-
Russel ES (1948) A quantitative histological study of the pigment found in the coat color mutants of the house mouse. II. Estimates of the total volume of pigment. Genetics 33: 228-236.
-
(1948)
Genetics
, vol.33
, pp. 228-236
-
-
Russel, E.S.1
-
6
-
-
0023976561
-
Changes in melanin granules in the fox due to coat color mutations
-
Bradbury MW, Fabricant JD (1988) Changes in melanin granules in the fox due to coat color mutations. J Hered 79: 133-136.
-
(1988)
J Hered
, vol.79
, pp. 133-136
-
-
Bradbury, M.W.1
Fabricant, J.D.2
-
7
-
-
34247140712
-
Mapping of the silver gene in mink and its association with the dilution gene in dog
-
DOI 10.1159/000100417
-
Anistoroaei R, Christensen K (2007) Mapping of the silver gene in mink and its association with the dilution gene in dog. Cytogenet Genome Res 116: 316-318. doi:10.1159/000100417. PubMed: 17431331. (Pubitemid 46595002)
-
(2007)
Cytogenetic and Genome Research
, vol.116
, Issue.4
, pp. 316-318
-
-
Anistoroaei, R.1
Christensen, K.2
-
8
-
-
26444448038
-
Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs
-
doi:10.1186/1471-2156-6-S1-S34. PubMed: 15960853
-
Philipp U, Hamann H, Mecklenburg L, Nishino S, Mignot E et al. (2005) Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. BMC Genet 6: 34. doi:10.1186/1471-2156-6-S1-S34. PubMed: 15960853.
-
(2005)
BMC Genet
, vol.6
, pp. 34
-
-
Philipp, U.1
Hamann, H.2
Mecklenburg, L.3
Nishino, S.4
Mignot, E.5
-
9
-
-
25144468531
-
Color-dilution alopecia in dogs
-
PubMed: 16131833
-
Kim JH, Kang KI, Sohn HJ, Woo GH, Jean YH et al. (2005) Color-dilution alopecia in dogs. J Vet Sci 6: 259-261. PubMed: 16131833.
-
(2005)
J Vet Sci
, vol.6
, pp. 259-261
-
-
Kim, J.H.1
Kang, K.I.2
Sohn, H.J.3
Woo, G.H.4
Jean, Y.H.5
-
10
-
-
67650179548
-
Color dilution alopecia in a blue Doberman pinscher crossbreed
-
PubMed: 19436637
-
Perego R, Proverbio D, Roccabianca P, Spada E (2009) Color dilution alopecia in a blue Doberman pinscher crossbreed. Can Vet J 50: 511-514. PubMed: 19436637.
-
(2009)
Can Vet J
, vol.50
, pp. 511-514
-
-
Perego, R.1
Proverbio, D.2
Roccabianca, P.3
Spada, E.4
-
11
-
-
0018086099
-
A syndrome associating partial albinism and immunodeficiency
-
Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C et al. (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65: 691-702. doi:10.1016/0002-9343(78)90858-6. PubMed: 707528. (Pubitemid 9039527)
-
(1978)
American Journal of Medicine
, vol.65
, Issue.4
, pp. 691-702
-
-
Griscelli, C.1
Durandy, A.2
Guy-Grand, D.3
-
12
-
-
0000764518
-
The effects of genotype and cell environment on melanoblast differentiation in the house mouse
-
PubMed: 17247639
-
Markert CL, Silvers WK (1956) The effects of genotype and cell environment on melanoblast differentiation in the house mouse. Genetics 41: 429-450. PubMed: 17247639.
-
(1956)
Genetics
, vol.41
, pp. 429-450
-
-
Markert, C.L.1
Silvers, W.K.2
-
13
-
-
33646533935
-
Black hair follicular dysplasia in Large Münsterländer dogs: Clinical, histological and ultrastructural features
-
doi:10.1111/j.1365-3164.2006.00517.x. PubMed: 16674733
-
von Bomhard W, Mauldin EA, Schmutz SM, Leeb T, Casal ML (2006) Black hair follicular dysplasia in Large Münsterländer dogs: clinical, histological and ultrastructural features. Vet Dermatol 17: 182-188. doi:10.1111/j.1365-3164.2006.00517.x. PubMed: 16674733.
-
(2006)
Vet Dermatol
, vol.17
, pp. 182-188
-
-
Von Bomhard, W.1
Mauldin, E.A.2
Schmutz, S.M.3
Leeb, T.4
Casal, M.L.5
-
14
-
-
0037023745
-
Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: Implications of a tripartite protein complex for melanosome transport
-
DOI 10.1074/jbc.C200005200
-
Fukuda M, Kuroda TS, Mikoshiba K (2002) Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. J Biol Chem 277: 12432-12436. doi:10.1074/jbc. C200005200. PubMed: 11856727. (Pubitemid 34952817)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.14
, pp. 12432-12436
-
-
Fukuda, M.1
Kuroda, T.S.2
Mikoshiba, K.3
-
15
-
-
0032576622
-
Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin v function in vivo
-
DOI 10.1083/jcb.143.7.1899
-
Wu X, Bowers B, Rao K, Wei Q, Hammer JA III (1998) Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function In vivo. J Cell Biol 143: 1899-1918. doi:10.1083/jcb.143. 7.1899. PubMed: 9864363. (Pubitemid 29022612)
-
(1998)
Journal of Cell Biology
, vol.143
, Issue.7
, pp. 1899-1918
-
-
Wu, X.1
Bowers, B.2
Rao, K.3
Wei, Q.4
Hammer III, J.A.5
-
16
-
-
0036226156
-
Identification of an organelle receptor for myosin-Va
-
DOI 10.1038/ncb760
-
Wu XS, Rao K, Zhang H, Wang F, Sellers JR et al. (2002) Identification of an organelle receptor for myosin-Va. Nat Cell Biol 4: 271-278. doi:10.1038/ncb760. PubMed: 11887186. (Pubitemid 34308852)
-
(2002)
Nature Cell Biology
, vol.4
, Issue.4
, pp. 271-278
-
-
Wu, X.S.1
Rao, K.2
Zhang, H.3
Wang, F.4
Sellers, J.R.5
Matesic, L.E.6
Copeland, N.G.7
Jenkins, N.A.8
Hammer III, J.A.9
-
17
-
-
0037165662
-
Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions
-
DOI 10.1016/S0014-5793(02)02634-0, PII S0014579302026340
-
Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K et al. (2002) Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. FEBS Lett 517: 233-238. doi:10.1016/S0014-5793(02)02634-0. PubMed: 12062444. (Pubitemid 34327666)
-
(2002)
FEBS Letters
, vol.517
, Issue.1-3
, pp. 233-238
-
-
Nagashima, K.1
Torii, S.2
Yi, Z.3
Igarashi, M.4
Okamoto, K.5
Takeuchi, T.6
Izumi, T.7
-
18
-
-
65549160015
-
Griscelli syndrome: A model system to study vesicular trafficking
-
doi:10.1111/j.1755-148X.2009.00558.x
-
Van Gele M, Dynoodt P, Lambert J (2009) Griscelli syndrome: a model system to study vesicular trafficking. Pigment. Cell - Melanoma Res 22: 268-282. doi:10.1111/j.1755-148X.2009.00558.x.
-
(2009)
Pigment. Cell - Melanoma Res
, vol.22
, pp. 268-282
-
-
Van Gele, M.1
Dynoodt, P.2
Lambert, J.3
-
19
-
-
0030914460
-
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
-
Erratum: Nat Genet 23: 373
-
Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, et al. (1997) Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 16: 289-292. Erratum: Nat Genet 23: 373
-
(1997)
Nat Genet
, vol.16
, pp. 289-292
-
-
Pastural, E.1
Barrat, F.J.2
Dufourcq-Lagelouse, R.3
Certain, S.4
Sanal, O.5
-
20
-
-
0344002689
-
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
-
DOI 10.1038/76024
-
Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F et al. (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 25: 173-176. doi:10.1038/76024. PubMed: 10835631. (Pubitemid 30394987)
-
(2000)
Nature Genetics
, vol.25
, Issue.2
, pp. 173-176
-
-
Menasche, G.1
Pastural, E.2
Feldmann, J.3
Certain, S.4
Ersoy, F.5
Dupuis, S.6
Wulffraat, N.7
Bianchi, D.8
Fischer, A.9
Le, D.F.10
De Saint, B.G.11
-
21
-
-
0042388106
-
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
-
DOI 10.1172/JCI200318264
-
Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I et al. (2003) Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 112: 450-456. doi:10.1172/JCI200318264. PubMed: 12897212. (Pubitemid 38063774)
-
(2003)
Journal of Clinical Investigation
, vol.112
, Issue.3
, pp. 450-456
-
-
Menasche, G.1
Ho, C.H.2
Sanal, O.3
Feldmann, J.4
Tezcan, I.5
Ersoy, F.6
Houdusse, A.7
Fischer, A.8
De Saint, B.G.9
-
22
-
-
0035996808
-
Griscelli disease: Genotype-phenotype correlation in an array of clinical heterogeneity
-
DOI 10.1023/A:1016045026204
-
Sanal O, Ersoy F, Tezcan I, Metin A, Yel L et al. (2002) Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. J Clin Immunol 22: 237-243. doi:10.1023/A:1016045026204. PubMed: 12148598. (Pubitemid 34774987)
-
(2002)
Journal of Clinical Immunology
, vol.22
, Issue.4
, pp. 237-243
-
-
Sanal, O.1
Ersoy, F.2
Tezcan, I.3
Metin, A.4
Yel, L.5
Menasche, G.6
Gurgey, A.7
Berkel, I.8
De Saint, B.G.9
-
23
-
-
0035964395
-
Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice
-
DOI 10.1073/pnas.181336698
-
Matesic LE, Yip R, Reuss AE, Swing DA, O'Sullivan TN et al. (2001) Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc Natl Acad Sci U S A 98: 10238-10243. doi:10.1073/pnas.181336698. PubMed: 11504925. (Pubitemid 32803004)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.18
, pp. 10238-10243
-
-
Matesic, L.E.1
Yip, R.2
Reuss, A.E.3
Swing, D.A.4
O'Sullivan, T.N.5
Fletcher, C.F.6
Copeland, N.G.7
Jenkins, N.A.8
-
24
-
-
77952378278
-
Whole-genome SNP association in the horse: Identification of a deletion in myosin Va responsible for lavender foal syndrome
-
PubMed: 20419149
-
Brooks SA, Gabreski N, Miller D, Brisbin A, Brown HE et al. (2010) Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for lavender foal syndrome. PLoS Genet 4: e1000909. PubMed: 20419149.
-
(2010)
PLoS Genet
, vol.4
-
-
Brooks, S.A.1
Gabreski, N.2
Miller, D.3
Brisbin, A.4
Brown, H.E.5
-
25
-
-
33750520133
-
A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes
-
DOI 10.1091/mbc.E06-05-0457
-
Hume AN, Tarafder AK, Ramalho JS, Sviderskaya EV, Seabra MC (2006) A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes. Mol Biol Cell 17: 4720-4735. doi:10.1091/mbc.E06-05-0457. PubMed: 16914517. (Pubitemid 44665742)
-
(2006)
Molecular Biology of the Cell
, vol.17
, Issue.11
, pp. 4720-4735
-
-
Hume, A.N.1
Tarafder, A.K.2
Ramalho, J.S.3
Sviderskaya, E.V.4
Seabra, M.C.5
-
26
-
-
33751084845
-
A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat
-
DOI 10.1016/j.ygeno.2006.06.006, PII S0888754306001777
-
Ishida Y, David VA, Eizirik E, Schäffer AA, Neelam BA et al. (2006) A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat. Genomics 88: 698-705. doi:10.1016/j.ygeno.2006.06.006. PubMed: 16860533. (Pubitemid 44768062)
-
(2006)
Genomics
, vol.88
, Issue.6
, pp. 698-705
-
-
Ishida, Y.1
David, V.A.2
Eizirik, E.3
Schaffer, A.A.4
Neelam, B.A.5
Roelke, M.E.6
Hannah, S.S.7
O'Brien, S.J.8
Menotti-Raymond, M.9
-
27
-
-
34548426013
-
A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs
-
DOI 10.1093/jhered/esm021
-
Drögemüller C, Philipp U, Haase B, Günzel-Apel A-R, Leeb T (2007) A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered 98: 468-473. doi:10.1093/jhered/esm021. PubMed: 17519392. (Pubitemid 47357579)
-
(2007)
Journal of Heredity
, vol.98
, Issue.5
, pp. 468-473
-
-
Drogemuller, C.1
Philipp, U.2
Haase, B.3
Gunzel-Apel, A.-R.4
Leeb, T.5
-
28
-
-
84865556413
-
The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature
-
doi:10.1186/1471-2164-13-442. PubMed: 22937744
-
Bed'hom B, Vaez M, Coville JL, Gourichon D, Chastel O et al. (2012) The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature. BMC Genomics 13: 442. doi:10.1186/1471-2164-13-442. PubMed: 22937744.
-
(2012)
BMC Genomics
, vol.13
, pp. 442
-
-
Bed'hom, B.1
Vaez, M.2
Coville, J.L.3
Gourichon, D.4
Chastel, O.5
-
29
-
-
0022555839
-
Splicing of messenger RNA precursors
-
Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA (1986) Splicing of messenger RNA precursors. Annu Rev Biochem 55: 1119-1150. doi:10.1146/annurev.bi.55.070186.005351. PubMed: 2943217. (Pubitemid 16070797)
-
(1986)
Annual Review of Biochemistry
, vol.VOL. 55
, pp. 1119-1150
-
-
Padgett, R.A.1
Grabowski, P.J.2
Konarska, M.M.3
-
30
-
-
73949094341
-
Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity
-
doi:10.1530/EJE-09-0583. PubMed: 19812236
-
David A, Miraki-Moud F, Shaw NJ, Savage MO, Clark AJ et al. (2010) Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity. Eur J Endocrinol 162: 37-42. doi:10.1530/EJE-09-0583. PubMed: 19812236.
-
(2010)
Eur J Endocrinol
, vol.162
, pp. 37-42
-
-
David, A.1
Miraki-Moud, F.2
Shaw, N.J.3
Savage, M.O.4
Clark, A.J.5
-
31
-
-
0033767549
-
Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation
-
doi:10.1002/1098-2264(2000)9999:9999. PubMed: 11066084
-
Clarke LA, Veiga I, Isidro G, Jordan P, Ramos JS et al. (2000) Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation. Genes Chromosomes Cancer 29: 367-370. doi:10.1002/1098-2264(2000)9999: 9999. PubMed: 11066084.
-
(2000)
Genes Chromosomes Cancer
, vol.29
, pp. 367-370
-
-
Clarke, L.A.1
Veiga, I.2
Isidro, G.3
Jordan, P.4
Ramos, J.S.5
-
32
-
-
0023936038
-
A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS 2
-
doi:10.1093/nar/16.11.4927. PubMed: 3387213
-
Beldjord C, Lapoumeroulie C, Pagnier J, Benabadji M, Krishnamoorthy R et al. (1988) A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS 2. Nucleic Acids Res 16: 4927-4935. doi:10.1093/nar/16.11.4927. PubMed: 3387213.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 4927-4935
-
-
Beldjord, C.1
Lapoumeroulie, C.2
Pagnier, J.3
Benabadji, M.4
Krishnamoorthy, R.5
-
33
-
-
0029064776
-
A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: Evidence for an increased hnRNP C interaction
-
doi:10.1093/nar/23.17.3419. PubMed: 7567451
-
Sébillon P, Beldjord C, Kaplan JC, Brody E, Marie J (1995) A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction. Nucleic Acids Res 23: 3419-3425. doi:10.1093/nar/23.17. 3419. PubMed: 7567451.
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 3419-3425
-
-
Sébillon, P.1
Beldjord, C.2
Kaplan, J.C.3
Brody, E.4
Marie, J.5
-
34
-
-
0025762515
-
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations
-
PubMed: 2001456
-
Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta GV et al. (1991) Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. Blood 77: 1342-1347. PubMed: 2001456.
-
(1991)
Blood
, vol.77
, pp. 1342-1347
-
-
Murru, S.1
Loudianos, G.2
Deiana, M.3
Camaschella, C.4
Sciarratta, G.V.5
-
35
-
-
0029933504
-
Initial splice-site recognition and pairing during premRNA splicing
-
doi:10.1016/S0959-437X(96)80053-0. PubMed: 8722179
-
Reed R (1996) Initial splice-site recognition and pairing during premRNA splicing. Curr Opin Genet Dev 6: 215-220. doi:10.1016/S0959-437X(96)80053-0. PubMed: 8722179.
-
(1996)
Curr Opin Genet Dev
, vol.6
, pp. 215-220
-
-
Reed, R.1
-
36
-
-
0034256020
-
Alternative pre-mRNA splicing: The logic of combinatorial control
-
DOI 10.1016/S0968-0004(00)01604-2, PII S0968000400016042
-
Smith CWJ, Valcárcel J (2000) Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem Sci 25: 381-388. doi:10.1016/S0968-0004(00)01604-2. PubMed: 10916158. (Pubitemid 30497249)
-
(2000)
Trends in Biochemical Sciences
, vol.25
, Issue.8
, pp. 381-388
-
-
Smith, C.W.J.1
Valcarcel, J.2
-
37
-
-
0024808994
-
The organization of 3′ splice-site sequences in mammalian introns
-
doi:10.1101/gad.3.12b.2113. PubMed: 2628164
-
Reed R (1989) The organization of 3′ splice-site sequences in mammalian introns. Genes Dev 3: 2113-2123. doi:10.1101/gad.3.12b.2113. PubMed: 2628164.
-
(1989)
Genes Dev
, vol.3
, pp. 2113-2123
-
-
Reed, R.1
-
38
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
PubMed: 1427786
-
Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90: 41-54. PubMed: 1427786.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
39
-
-
0027233694
-
A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing
-
Roscigno RF, Weiner M, Garcia-Blanco MA (1993) A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing. J Biol Chem 268: 11222-11229. PubMed: 8496178. (Pubitemid 23162315)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.15
, pp. 11222-11229
-
-
Roscigno, R.F.1
Weiner, M.2
Garcia-Blanco, M.A.3
-
40
-
-
0030944113
-
Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intronsplice site
-
Haire RN, Ohta Y, Strong SJ, Litman RT, Liu Y et al. (1997) Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intronsplice site. Am J Hum Genet 60: 798-807. p. 17 3
-
(1997)
Am J Hum Genet
, vol.60
-
-
Haire, R.N.1
Ohta, Y.2
Strong, S.J.3
Litman, R.T.4
Liu, Y.5
-
41
-
-
0027172452
-
Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations
-
Schneider S, Wildhardt G, Ludwig R, Royer-Pokora B (1993) Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations. Hum Genet 91: 599-604. PubMed: 8393425. (Pubitemid 23241006)
-
(1993)
Human Genetics
, vol.91
, Issue.6
, pp. 599-604
-
-
Schneder, S.1
Wildhard, G.2
Ludwig, R.3
Royer-Pokora, B.4
-
42
-
-
0029794493
-
Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease
-
Aoshima M, Nunoi H, Shimazu M, Shimizu S, Tatsuzawa O et al. (1996) Two-exon skipping due to a point mutation in p67-phox - deficient chronic granulomatous disease. Blood 88: 1841-1845. PubMed: 8781442. (Pubitemid 26307082)
-
(1996)
Blood
, vol.88
, Issue.5
, pp. 1841-1845
-
-
Aoshima, M.1
Nunoi, H.2
Shimazu, M.3
Shimizu, S.4
Tatsuzawa, O.5
Kenney, R.T.6
Kanegasaki, S.7
-
43
-
-
0035853287
-
A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
-
DOI 10.1006/jmbi.2001.4561
-
Fang LJ, Simard MJ, Vidaud D, Assouline B, Lemieux B et al. (2001) A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition. J Mol Biol 307: 1261-1270. doi:10.1006/jmbi.2001.4561. PubMed: 11292340. (Pubitemid 33027638)
-
(2001)
Journal of Molecular Biology
, vol.307
, Issue.5
, pp. 1261-1270
-
-
Fang, L.J.1
Simard, M.J.2
Vidaud, D.3
Assouline, B.4
Lemieux, B.5
Vidaud, M.6
Chabot, B.7
Thirion, J.-P.8
-
44
-
-
0036724443
-
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I
-
DOI 10.1086/342099
-
Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H et al. (2002) Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet 71: 451-465. doi:10.1086/342099. PubMed: 12145749. (Pubitemid 34970118)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.3
, pp. 451-465
-
-
Takahara, K.1
Schwarze, U.2
Imamura, Y.3
Hoffman, G.G.4
Toriello, H.5
Smith, L.T.6
Byers, P.H.7
Greenspan, D.S.8
-
45
-
-
33846935651
-
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene
-
DOI 10.1016/j.ymgme.2006.10.010, PII S1096719206003568
-
Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP et al. (2007) Single-base substitution at the last nucleotide of exon 6 (c.671GA), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT). Gene - Mol Genet Metab 90: 291-297. doi:10.1016/j.ymgme. 2006.10.010. (Pubitemid 46241906)
-
(2007)
Molecular Genetics and Metabolism
, vol.90
, Issue.3 SPEC. ISS.
, pp. 291-297
-
-
Yamada, K.1
Fukao, T.2
Zhang, G.3
Sakurai, S.4
Ruiter, J.P.N.5
Wanders, R.J.A.6
Kondo, N.7
-
46
-
-
84873998647
-
Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5ga in OXCT1 gene: Study on intermediates of OXCT1 transcripts in fibroblasts
-
doi:10.1002/humu.22258. PubMed: 23281106
-
Hori T, Fukao T, Murase K, Sakaguchi N, Harding CO et al. (2013) Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5ga in OXCT1 gene: Study on intermediates of OXCT1 transcripts in fibroblasts. Hum Mutat 34: 473-480. doi:10.1002/humu.22258. PubMed: 23281106.
-
(2013)
Hum Mutat
, vol.34
, pp. 473-480
-
-
Hori, T.1
Fukao, T.2
Murase, K.3
Sakaguchi, N.4
Harding, C.O.5
-
48
-
-
84985287343
-
A new, less toxic polymerisation system for the embedding of soft tissues in glycol methacrylate and subsequent preparing of serial sections
-
doi:10.1111/j.1365-2818.1983.tb04711.x. PubMed: 6361264
-
Gerrits PO, Smid L (1983) A new, less toxic polymerisation system for the embedding of soft tissues in glycol methacrylate and subsequent preparing of serial sections. J Microsc 132: 81-85. doi:10.1111/j.1365-2818.1983.tb04711.x. PubMed: 6361264.
-
(1983)
J Microsc
, vol.132
, pp. 81-85
-
-
Gerrits, P.O.1
Smid, L.2
-
49
-
-
0020959512
-
The effects of embedding in water-soluble plastics on the final dimensions of liver sections
-
Hanstede JG, Gerrits PO (1983) The effects of embedding in watersoluble plastics on the final dimensions of liver sections. J Microsc 131: 79-86. doi:10.1111/j.1365-2818.1983.tb04233.x. PubMed: 6350599. (Pubitemid 13050517)
-
(1983)
Journal of Microscopy
, vol.131
, Issue.1
, pp. 79-86
-
-
Hanstede, J.G.1
Gerrits, P.O.2
-
50
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
doi:10.1038/nmeth0410-248. PubMed: 20354512
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249. doi:10.1038/nmeth0410-248. PubMed: 20354512.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
-
51
-
-
43149106728
-
Establishment of a new mismatch PCR-RFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India
-
DOI 10.1111/j.1365-2516.2008.01704.x
-
Quadros L, Ghosh K, Shetty S (2008) Establishment of a new mismatch PCR-RFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India. Haemophilia 14: 628-629. doi:10.1111/j.1365-2516.2008.01704.x. PubMed: 18393981. (Pubitemid 351638758)
-
(2008)
Haemophilia
, vol.14
, Issue.3
, pp. 628-629
-
-
Quadros, L.1
Ghosh, K.2
Shetty, S.3
-
52
-
-
13444269543
-
Haploview: Analysis and visualization of LD and haplotype maps
-
DOI 10.1093/bioinformatics/bth457
-
Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265. doi:10.1093/bioinformatics/bth457. PubMed: 15297300. (Pubitemid 40202029)
-
(2005)
Bioinformatics
, vol.21
, Issue.2
, pp. 263-265
-
-
Barrett, J.C.1
Fry, B.2
Maller, J.3
Daly, M.J.4
|