-
1
-
-
84876815438
-
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect
-
23532965 10.1002/ajmg.a.35847
-
Amarillo IE, Dipple KM, Quintero-Rivera F (2013) Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Am J Med Genet A 161A:1167-1172
-
(2013)
Am J Med Genet A
, vol.161
, pp. 1167-1172
-
-
Amarillo, I.E.1
Dipple, K.M.2
Quintero-Rivera, F.3
-
2
-
-
33644989691
-
Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern
-
1:CAS:528:DC%2BD28Xis1Wisbc%3D 16458883 10.1016/j.ydbio.2005.11.013
-
Bagheri-Fam S, Barrionuevo F, Dohrmann U et al (2006) Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern. Dev Biol 291:382-397
-
(2006)
Dev Biol
, vol.291
, pp. 382-397
-
-
Bagheri-Fam, S.1
Barrionuevo, F.2
Dohrmann, U.3
-
3
-
-
34447309050
-
SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway
-
1:CAS:528:DC%2BD2sXntVKqsb0%3D 17409199 10.1093/hmg/ddm061
-
Bien-Willner GA, Stankiewicz P, Lupski JR (2007) SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet 16:1143-1156
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1143-1156
-
-
Bien-Willner, G.A.1
Stankiewicz, P.2
Lupski, J.R.3
-
4
-
-
61349104285
-
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
-
1:CAS:528:DC%2BD1MXitFKlurg%3D 19234473 10.1038/ng.329
-
Benko S, Fantes JA, Amiel J et al (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41:359-364
-
(2009)
Nat Genet
, vol.41
, pp. 359-364
-
-
Benko, S.1
Fantes, J.A.2
Amiel, J.3
-
5
-
-
84856009018
-
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
-
1:CAS:528:DC%2BC38XhvVCmu70%3D 22051515 10.1136/jmedgenet-2011-100255
-
Benko S, Gordon CT, Mallet D et al (2011) Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet 48:825-830
-
(2011)
J Med Genet
, vol.48
, pp. 825-830
-
-
Benko, S.1
Gordon, C.T.2
Mallet, D.3
-
6
-
-
84856118532
-
Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer
-
1:CAS:528:DC%2BC38XitVegt7k%3D 22128028 10.1210/en.2011-1347
-
Bernard P, Ryan J, Sim H et al (2012) Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer. Endocrinology 153:901-912
-
(2012)
Endocrinology
, vol.153
, pp. 901-912
-
-
Bernard, P.1
Ryan, J.2
Sim, H.3
-
7
-
-
84860885909
-
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy
-
1:CAS:528:DC%2BC38Xmt1Gqs7Y%3D 3350859 22541069 10.1016/j.cell.2012.03. 035
-
Cabianca DS, Casa V, Bodega B et al (2012) A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell 149:819-831
-
(2012)
Cell
, vol.149
, pp. 819-831
-
-
Cabianca, D.S.1
Casa, V.2
Bodega, B.3
-
8
-
-
78650924037
-
A SOX9 duplication and familial 46, XX developmental testicular disorder
-
1:CAS:528:DC%2BC3MXisVKltw%3D%3D 21208124 10.1056/NEJMc1010311
-
Cox JJ, Willatt L, Homfray T et al (2011) A SOX9 duplication and familial 46, XX developmental testicular disorder. New Eng J Med 364:91-93
-
(2011)
New Eng J Med
, vol.364
, pp. 91-93
-
-
Cox, J.J.1
Willatt, L.2
Homfray, T.3
-
9
-
-
0037083376
-
Capturing chromosome conformation
-
1:CAS:528:DC%2BD38XhsVGhsbk%3D 11847345 10.1126/science.1067799
-
Dekker J, Rippe K, Dekker M et al (2002) Capturing chromosome conformation. Science 295:1306-1311
-
(2002)
Science
, vol.295
, pp. 1306-1311
-
-
Dekker, J.1
Rippe, K.2
Dekker, M.3
-
10
-
-
34248524473
-
Mapping networks of physical interactions between genomic elements using 5C technology
-
1:CAS:528:DC%2BD2sXhtFGnurzO 17446898 10.1038/nprot.2007.116
-
Dostie J, Dekker J (2007) Mapping networks of physical interactions between genomic elements using 5C technology. Nat Protoc 2:988-1002
-
(2007)
Nat Protoc
, vol.2
, pp. 988-1002
-
-
Dostie, J.1
Dekker, J.2
-
11
-
-
84877072005
-
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: Two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
-
1:CAS:528:DC%2BC3sXptlSjtro%3D 3658899 23648064 10.1186/1471-2350-14-50
-
Fonseca AC, Bonaldi A, Bertola DR et al (2013) The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet 14:50
-
(2013)
BMC Med Genet
, vol.14
, pp. 50
-
-
Fonseca, A.C.1
Bonaldi, A.2
Bertola, D.R.3
-
12
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
1:CAS:528:DyaK2MXisFKkt7k%3D 7990924 10.1038/372525a0
-
Foster JW, Dominguez-Steglich MA, Guioli S et al (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
-
13
-
-
84862689346
-
Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula
-
22529047 10.1002/ajmg.a.35308
-
Fukami M, Tsuchiya T, Takada S et al (2012) Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula. Am J Med Genet A 158A:1529-1534
-
(2012)
Am J Med Genet A
, vol.158
, pp. 1529-1534
-
-
Fukami, M.1
Tsuchiya, T.2
Takada, S.3
-
14
-
-
78049340340
-
Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis
-
1:STN:280:DC%2BC3cbis1ejtg%3D%3D 20838034 10.1159/000320142
-
Georg I, Bagheri-Fam S, Knower KC et al (2010) Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis. Sex Dev 4:321-325
-
(2010)
Sex Dev
, vol.4
, pp. 321-325
-
-
Georg, I.1
Bagheri-Fam, S.2
Knower, K.C.3
-
15
-
-
70349705754
-
Long-range regulation at the SOX9 locus in development and disease
-
1:CAS:528:DC%2BD1MXhtl2kur%2FF 19473998 10.1136/jmg.2009.068361
-
Gordon CT, Tan TY, Benko S et al (2009) Long-range regulation at the SOX9 locus in development and disease. J Med Genet 46:649-656
-
(2009)
J Med Genet
, vol.46
, pp. 649-656
-
-
Gordon, C.T.1
Tan, T.Y.2
Benko, S.3
-
16
-
-
15944392851
-
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia
-
1:CAS:528:DC%2BD2MXisleisLk%3D 1199303 15717285 10.1086/429254
-
Hill-Harfe KL, Kaplan L, Stalker HJ et al (2005) Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. Am J Hum Genet 76:663-671
-
(2005)
Am J Hum Genet
, vol.76
, pp. 663-671
-
-
Hill-Harfe, K.L.1
Kaplan, L.2
Stalker, H.J.3
-
17
-
-
0032725866
-
Autosomal XX sex reversal caused by duplication of SOX9
-
1:STN:280:DC%2BD3c%2Fls1SitA%3D%3D 10588843 10.1002/(SICI)1096- 8628(19991203)87:4<349: AID-AJMG13>3.0.CO;2-N
-
Huang B, Wang S, Ning Y et al (1999) Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet 87:349-353
-
(1999)
Am J Med Genet
, vol.87
, pp. 349-353
-
-
Huang, B.1
Wang, S.2
Ning, Y.3
-
18
-
-
34250765325
-
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
-
1:CAS:528:DC%2BD2sXnvFOisbo%3D 17551083 10.1136/jmg.2006.046177
-
Jakobsen LP, Ullmann R, Christensen SB et al (2007) Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet 44:381-386
-
(2007)
J Med Genet
, vol.44
, pp. 381-386
-
-
Jakobsen, L.P.1
Ullmann, R.2
Christensen, S.B.3
-
19
-
-
17644440501
-
Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation
-
1:STN:280:DC%2BD2c%2FjtlWksg%3D%3D 14729841 10.1136/jmg.2003.010157
-
Jamshidi N, Macciocca I, Dargaville PA et al (2004) Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation. J Med Genet 41:e1
-
(2004)
J Med Genet
, vol.41
, pp. 1
-
-
Jamshidi, N.1
Macciocca, I.2
Dargaville, P.A.3
-
20
-
-
79952607849
-
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations
-
1:CAS:528:DC%2BC3MXjvVCmtLg%3D 3055899 21412441 10.1371/journal.pone. 0017751
-
Knower KC, Kelly S, Ludbrook LM et al (2011) Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. PLoS One 6:e17751
-
(2011)
PLoS One
, vol.6
, pp. 17751
-
-
Knower, K.C.1
Kelly, S.2
Ludbrook, L.M.3
-
21
-
-
68149169945
-
Duplications of noncoding elements 5-prime of SOX9 are associated with brachydactyly-anonychia
-
1:CAS:528:DC%2BD1MXptFGrsL4%3D 19639023 10.1038/ng0809-862
-
Kurth I, Klopocki E, Stricker S et al (2009) Duplications of noncoding elements 5-prime of SOX9 are associated with brachydactyly-anonychia. Nat Genet 41:862-863
-
(2009)
Nat Genet
, vol.41
, pp. 862-863
-
-
Kurth, I.1
Klopocki, E.2
Stricker, S.3
-
22
-
-
66349083856
-
Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9
-
1:CAS:528:DC%2BD1MXotFSgtLo%3D 19449405 10.1002/ajmg.a.32830
-
Lecointre C, Pichon O, Hamel A et al (2009) Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. Am J Med Genet 149A:1183-1189
-
(2009)
Am J Med Genet
, vol.149
, pp. 1183-1189
-
-
Lecointre, C.1
Pichon, O.2
Hamel, A.3
-
23
-
-
33845528754
-
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
-
1:STN:280:DC%2BD2s7hsFaksg%3D%3D 17204049 10.1111/j.1399-0004.2007.00736. x
-
Leipoldt M, Erdel M, Bien-Willner GA et al (2007) Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet 71:67-75
-
(2007)
Clin Genet
, vol.71
, pp. 67-75
-
-
Leipoldt, M.1
Erdel, M.2
Bien-Willner, G.A.3
-
24
-
-
84868629293
-
A misplaced lncRNA causes brachydactyly in humans
-
1:CAS:528:DC%2BC38Xhs1CisL7J 3485082 23093776 10.1172/JCI65508
-
Maass PG, Rump A, Schulz H et al (2012) A misplaced lncRNA causes brachydactyly in humans. J Clin Invest 122:3990-4002
-
(2012)
J Clin Invest
, vol.122
, pp. 3990-4002
-
-
Maass, P.G.1
Rump, A.2
Schulz, H.3
-
25
-
-
53049106906
-
Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal
-
1:CAS:528:DC%2BD1cXhtFCisLzK 18617533 10.1093/hmg/ddn193
-
Maatouk DM, DiNapoli L, Alvers A, Parker KL, Taketo MM, Capel B (2008) Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal. Hum Mol Genet 17:2949-2955
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2949-2955
-
-
Maatouk, D.M.1
Dinapoli, L.2
Alvers, A.3
Parker, K.L.4
Taketo, M.M.5
Capel, B.6
-
26
-
-
0029033699
-
A clinical and genetic study of campomelic dysplasia
-
1:STN:280:DyaK2MzpsFyitQ%3D%3D 7666392 10.1136/jmg.32.6.415
-
Mansour S, Hall CM, Pembrey ME et al (1995) A clinical and genetic study of campomelic dysplasia. J Med Genet 32:415-420
-
(1995)
J Med Genet
, vol.32
, pp. 415-420
-
-
Mansour, S.1
Hall, C.M.2
Pembrey, M.E.3
-
27
-
-
0035576101
-
Acampomelic campomelic syndrome
-
1:STN:280:DC%2BD38%2FgtVWrsg%3D%3D 11754051 10.1002/ajmg.10033
-
Moog U, Jansen NJG, Scherer G et al (2001) Acampomelic campomelic syndrome. Am J Med Genet 104:239-245
-
(2001)
Am J Med Genet
, vol.104
, pp. 239-245
-
-
Moog, U.1
Jansen, N.J.G.2
Scherer, G.3
-
28
-
-
0033358653
-
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
-
1:STN:280:DyaK1M3psVGrug%3D%3D 1378081 10364523 10.1086/302455
-
Pfeifer D, Kist R, Dewar K et al (1999) Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet 65:111-124
-
(1999)
Am J Hum Genet
, vol.65
, pp. 111-124
-
-
Pfeifer, D.1
Kist, R.2
Dewar, K.3
-
29
-
-
2342530409
-
Screening of the 1 Mb SOX9 5′control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
-
1:STN:280:DC%2BD2c7ntFejtA%3D%3D 15060123 10.1136/jmg.2003.013185
-
Pop R, Conz C, Lindenberg KS et al (2004) Screening of the 1 Mb SOX9 5′control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. J Med Genet 41:e47
-
(2004)
J Med Genet
, vol.41
, pp. 47
-
-
Pop, R.1
Conz, C.2
Lindenberg, K.S.3
-
30
-
-
75449089508
-
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development
-
10.1002/ajmg.a.33201
-
Refai O, Friedman A, Terry L et al (2012) De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. Am J Med Genet A 152A:422-426
-
(2012)
Am J Med Genet A
, vol.152
, pp. 422-426
-
-
Refai, O.1
Friedman, A.2
Terry, L.3
-
31
-
-
3042730829
-
Long-range activation of Sox9 in Odd Sex (Ods) mice
-
1:CAS:528:DC%2BD2cXktF2qtLk%3D 15115764 10.1093/hmg/ddh141
-
Qin Y, Kong LK, Poirier C et al (2004) Long-range activation of Sox9 in Odd Sex (Ods) mice. Hum Mol Genet 13:1213-1218
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1213-1218
-
-
Qin, Y.1
Kong, L.K.2
Poirier, C.3
-
32
-
-
84865800494
-
The long-range interaction landscape of gene promoters
-
1:CAS:528:DC%2BC38XhtlGnsLnM 3555147 22955621 10.1038/nature11279
-
Sanyal A, Lajoie BR, Jain G et al (2012) The long-range interaction landscape of gene promoters. Nature 489:109-113
-
(2012)
Nature
, vol.489
, pp. 109-113
-
-
Sanyal, A.1
Lajoie, B.R.2
Jain, G.3
-
33
-
-
45149093155
-
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
-
1:CAS:528:DC%2BD1cXntVCqtbc%3D 18454134 10.1038/nature06944
-
Sekido, Lovell-Badge (2008) Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 453:930-934
-
(2008)
Nature
, vol.453
, pp. 930-934
-
-
Sekido1
Lovell-Badge2
-
34
-
-
33750212321
-
Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C)
-
1:CAS:528:DC%2BD28XhtFeisbvF 17033623 10.1038/ng1896
-
Simonis M, Klous P, Splinter E, Moshkin Y, Willemsen R, de Wit E, van Steensel B, de Laat W (2006) Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C). Nat Genet 38:1348-1354
-
(2006)
Nat Genet
, vol.38
, pp. 1348-1354
-
-
Simonis, M.1
Klous, P.2
Splinter, E.3
Moshkin, Y.4
Willemsen, R.5
De Wit, E.6
Van Steensel, B.7
De Laat, W.8
-
35
-
-
35748956435
-
An evaluation of 3C-based methods to capture DNA interactions
-
1:CAS:528:DC%2BD2sXht1aqtbbK 17971780 10.1038/nmeth1114
-
Simonis M, Kooren J, de Laat W (2007) An evaluation of 3C-based methods to capture DNA interactions. Nat Methods 4:895-901
-
(2007)
Nat Methods
, vol.4
, pp. 895-901
-
-
Simonis, M.1
Kooren, J.2
De Laat, W.3
-
36
-
-
84872001824
-
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
-
1:CAS:528:DC%2BC3sXnvV2ltg%3D%3D 23034409 10.1101/gr.141887.112
-
Szafranski P, Dharmadhikari AV, Brosens E et al (2013) Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res 23:23-33
-
(2013)
Genome Res
, vol.23
, pp. 23-33
-
-
Szafranski, P.1
Dharmadhikari, A.V.2
Brosens, E.3
-
37
-
-
84870918579
-
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities
-
1:CAS:528:DC%2BC38XhvVWisrjO 3516594 23217328 10.1016/j.ajhg.2012.10.016
-
Talkowski ME, Maussion G, Crapper L et al (2012) Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet 91:1128-1134
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1128-1134
-
-
Talkowski, M.E.1
Maussion, G.2
Crapper, L.3
-
38
-
-
71149095052
-
Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation
-
1:CAS:528:DC%2BC3cXhslartrs%3D 20005806 10.1016/j.cell.2009.11.021
-
Uhlenhaut NH, Jakob S, Anlag K et al (2009) Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. Cell 139:1130-1142
-
(2009)
Cell
, vol.139
, pp. 1130-1142
-
-
Uhlenhaut, N.H.1
Jakob, S.2
Anlag, K.3
-
39
-
-
84868611629
-
HELLP babies link a novel lincRNA to the trophoblast cell cycle
-
3484460 23093777 10.1172/JCI65171
-
Van Dijk M, Thulluru HK, Mulders J et al (2012) HELLP babies link a novel lincRNA to the trophoblast cell cycle. J Clin Invest 122:4003-4011
-
(2012)
J Clin Invest
, vol.122
, pp. 4003-4011
-
-
Van Dijk, M.1
Thulluru, H.K.2
Mulders, J.3
-
40
-
-
15944402131
-
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
-
1:CAS:528:DC%2BD2MXisleisLg%3D 1199302 15726498 10.1086/429252
-
Velagaleti GV, Bien-Willner GA, Northup JK et al (2005) Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 76:652-662
-
(2005)
Am J Hum Genet
, vol.76
, pp. 652-662
-
-
Velagaleti, G.V.1
Bien-Willner, G.A.2
Northup, J.K.3
-
41
-
-
80955165995
-
XX males SRY negative: A confirmed cause of infertility
-
10.1136/jmedgenet-2011-100036
-
Vetro A, Ciccone R, Giorda R et al (2011) XX males SRY negative: a confirmed cause of infertility. J Med Genet 2011(48):710-712
-
(2011)
J Med Genet
, vol.2011
, Issue.48
, pp. 710-712
-
-
Vetro, A.1
Ciccone, R.2
Giorda, R.3
-
42
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
-
1:STN:280:DyaK2M%2FpsVaktg%3D%3D 8001137 10.1016/0092-8674(94)90041-8
-
Wagner T, Wirth J, Meyer J et al (1994) Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 79:1111-1120
-
(1994)
Cell
, vol.79
, pp. 1111-1120
-
-
Wagner, T.1
Wirth, J.2
Meyer, J.3
-
43
-
-
79952333478
-
Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis
-
1:CAS:528:DC%2BC3MXjsFShtr8%3D 3049794 21408189 10.1371/journal.pone. 0017793
-
White S, Ohnesorg T, Notini A et al (2011) Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis. PLoS One 6:e17793
-
(2011)
PLoS One
, vol.6
, pp. 17793
-
-
White, S.1
Ohnesorg, T.2
Notini, A.3
-
44
-
-
0030057538
-
Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9
-
1:CAS:528:DyaK28XhsF2ltLc%3D 8566951 10.1007/BF02265263
-
Wirth J, Wagner T, Meyer J et al (1996) Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet 97:186-193
-
(1996)
Hum Genet
, vol.97
, pp. 186-193
-
-
Wirth, J.1
Wagner, T.2
Meyer, J.3
-
45
-
-
0032169781
-
Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia
-
1:CAS:528:DyaK1cXlvFWgtbs%3D 27949 9724758 10.1073/pnas.95.18.10649
-
Wunderle VM, Critcher R, Hastie N et al (1998) Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. Proc Natl Acad Sci U S A 95:10649-10654
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 10649-10654
-
-
Wunderle, V.M.1
Critcher, R.2
Hastie, N.3
-
46
-
-
31044432518
-
Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation
-
1:CAS:528:DC%2BD28XpsVSmtw%3D%3D 1326166 16387856 10.1073/pnas.0507979103
-
Zhang R, Murakami S, Coustry F et al (2006) Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation. Proc Natl Acad Sci U S A 103:365-370
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 365-370
-
-
Zhang, R.1
Murakami, S.2
Coustry, F.3
|