메뉴 건너뛰기




Volumn 4, Issue 4-5, 2010, Pages 213-224

New technologies for the identification of novel genetic markers of disorders of sex development (DSD)

Author keywords

Comparative genomic hybridization; Disorders of sex development; High throughput sequencing; Next generation sequencing

Indexed keywords

COMPARATIVE GENOMIC HYBRIDIZATION; DNA SEQUENCE; GENETIC MARKER; GENETIC PROCEDURES; GENETICS; HUMAN; REVIEW; SEX DIFFERENTIATION DISORDER;

EID: 84882321464     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000314917     Document Type: Article
Times cited : (47)

References (76)
  • 1
  • 2
    • 0033516530 scopus 로고    scopus 로고
    • True hermaphroditism with partial duplication of chromosome 22 and without SRY
    • Aleck KA, Argueso L, Stone J, Hackel JG, Erickson RP: True hermaphroditism with partial duplication of chromosome 22 and without SRY . Am J Med Genet 85: 2-4 (1999).
    • (1999) Am J Med Genet , vol.85 , pp. 2-4
    • Aleck, K.A.1    Argueso, L.2    Stone, J.3    Hackel, J.G.4    Erickson, R.P.5
  • 3
    • 71949109672 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH
    • Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, et al: Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. Am J Med Genet A 149A:2813-2819 (2009).
    • (2009) Am J Med Genet A , vol.149 A , pp. 2813-2819
    • Andrieux, J.1    Dubourg, C.2    Rio, M.3    Attie-Bitach, T.4    Delaby, E.5
  • 4
    • 67349209853 scopus 로고    scopus 로고
    • Next-generation DNA sequencing techniques
    • Ansorge WJ: Next-generation DNA sequencing techniques. N Biotechnol 25: 195-203 (2009).
    • (2009) N Biotechnol , vol.25 , pp. 195-203
    • Ansorge, W.J.1
  • 5
    • 77951646493 scopus 로고    scopus 로고
    • Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development
    • Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, et al: Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J Clin Endocrinol Metab 95: 1876-1888 (2010).
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 1876-1888
    • Audi, L.1    Fernández-Cancio, M.2    Carrascosa, A.3    Andaluz, P.4    Torán, N.5
  • 6
    • 34547728253 scopus 로고    scopus 로고
    • Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene
    • Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A: Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 92: 3305-3313 (2007).
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 3305-3313
    • Barbaro, M.1    Oscarson, M.2    Schoumans, J.3    Staaf, J.4    Ivarsson, S.A.5    Wedell, A.6
  • 7
    • 70350379382 scopus 로고    scopus 로고
    • Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
    • Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, et al: Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet 17: 1439-1447 (2009).
    • (2009) Eur J Hum Genet , vol.17 , pp. 1439-1447
    • Barbaro, M.1    Balsamo, A.2    Anderlid, B.M.3    Myhre, A.G.4    Gennari, M.5
  • 8
    • 0027957103 scopus 로고
    • A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
    • Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, et al: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7: 497-501 (1994).
    • (1994) Nat Genet , vol.7 , pp. 497-501
    • Bardoni, B.1    Zanaria, E.2    Guioli, S.3    Floridia, G.4    Worley, K.C.5
  • 9
    • 55549089660 scopus 로고    scopus 로고
    • Accurate whole human genome sequencing using reversible terminator chemistry
    • Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al: Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53-59 (2008).
    • (2008) Nature , vol.456 , pp. 53-59
    • Bentley, D.R.1    Balasubramanian, S.2    Swerdlow, H.P.3    Smith, G.P.4    Milton, J.5
  • 10
    • 77249119762 scopus 로고    scopus 로고
    • The landscape of somatic copy-number alteration across human cancers
    • Beroukhim R, Mermel CH, Porter D, Wei G, Raychaudhuri S, et el: The landscape of somatic copy-number alteration across human cancers. Nature 463: 899-905 (2010).
    • (2010) Nature , vol.463 , pp. 899-905
    • Beroukhim, R.1    Mermel, C.H.2    Porter, D.3    Wei, G.4    Raychaudhuri, S.5
  • 11
    • 10744230160 scopus 로고    scopus 로고
    • High-resolution analysis of DNA copy number using oligonucleotide microarrays
    • Bignell GR, Huang J, Greshock J, Watt S, Butler A, et al: High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res 14: 287-295 (2004).
    • (2004) Genome Res , vol.14 , pp. 287-295
    • Bignell, G.R.1    Huang, J.2    Greshock, J.3    Watt, S.4    Butler, A.5
  • 12
    • 70349781856 scopus 로고    scopus 로고
    • Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination
    • Bogani D, Siggers P, Brixey R, Warr N, Beddow S, et al: Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination. PLoS Biol 7:e1000196 (2009).
    • (2009) PLoS Biol , vol.7
    • Bogani, D.1    Siggers, P.2    Brixey, R.3    Warr, N.4    Beddow, S.5
  • 15
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, et al: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133: 23-32 (2010).
    • (2010) Brain , vol.133 , pp. 23-32
    • De Kovel, C.G.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5
  • 16
    • 0142232068 scopus 로고    scopus 로고
    • Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male
    • Erickson RP, Skinner S, Jacquet H, Campion D, Buckley PG, et al: Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male. Am J Med Genet A 123A:64-67 (2003)
    • (2003) Am J Med Genet A , vol.123 A , pp. 64-67
    • Erickson, R.P.1    Skinner, S.2    Jacquet, H.3    Campion, D.4    Buckley, P.G.5
  • 17
    • 33644857153 scopus 로고    scopus 로고
    • BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified glass and efficient generation of solid-phase amplified DNA colonies
    • Fedurco M, Romieu A, Williams S, Lawrence I, Turcatti G: BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified glass and efficient generation of solid-phase amplified DNA colonies. Nucleic Acids Res 34:e22 (2006).
    • (2006) Nucleic Acids Res , vol.34
    • Fedurco, M.1    Romieu, A.2    Williams, S.3    Lawrence, I.4    Turcatti, G.5
  • 19
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    • Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, et al: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203-209 (2010).
    • (2010) Nat Genet , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3    Antonacci, F.4    Siswara, P.5
  • 20
    • 84856818976 scopus 로고    scopus 로고
    • Common variants in polygenic schizophrenia
    • Glessner JT, Hakonarson H: Common variants in polygenic schizophrenia. Genome Biol 10: 236 (2009).
    • (2009) Genome Biol , vol.10 , pp. 236
    • Glessner, J.T.1    Hakonarson, H.2
  • 21
    • 59849113821 scopus 로고    scopus 로고
    • Solution hybrid selection with ultralong oligonucleotides for massively parallel targeted sequencing
    • Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, et al: Solution hybrid selection with ultralong oligonucleotides for massively parallel targeted sequencing. Nature Biotech 27: 182-189 (2009).
    • (2009) Nature Biotech , vol.27 , pp. 182-189
    • Gnirke, A.1    Melnikov, A.2    Maguire, J.3    Rogov, P.4    Leproust, E.M.5
  • 23
    • 58349116644 scopus 로고    scopus 로고
    • Validation of microarraybased resequencing of 93 worldwide mitochondrial genomes
    • Hartmann A, Thieme M, Nanduri LK, Stempfl T, Moehle C, et al: Validation of microarraybased resequencing of 93 worldwide mitochondrial genomes. Hum Mutat 30: 115-122 (2009).
    • (2009) Hum Mutat , vol.30 , pp. 115-122
    • Hartmann, A.1    Thieme, M.2    Nanduri, L.K.3    Stempfl, T.4    Moehle, C.5
  • 24
    • 36549021060 scopus 로고    scopus 로고
    • Genome-wide in situ exon capture for selective resequencing
    • Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, et al: Genome-wide in situ exon capture for selective resequencing. Nature Genet 39: 1522-1527 (2007).
    • (2007) Nature Genet , vol.39 , pp. 1522-1527
    • Hodges, E.1    Xuan, Z.2    Balija, V.3    Kramer, M.4    Molla, M.N.5
  • 25
  • 26
    • 33745773870 scopus 로고    scopus 로고
    • Consensus statement on management of intersex disorders
    • LWPES Consensus Group; ESPE Consensus Group
    • Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group: Consensus statement on management of intersex disorders. Arch Dis Child 91: 554-563 (2006).
    • (2006) Arch Dis Child , vol.91 , pp. 554-563
    • Hughes, I.A.1    Houk, C.2    Ahmed, S.F.3    Lee, P.A.4
  • 27
    • 0026495364 scopus 로고
    • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
    • Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, et al: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258: 818-821 (1992).
    • (1992) Science , vol.258 , pp. 818-821
    • Kallioniemi, A.1    Kallioniemi, O.P.2    Sudar, D.3    Rutovitz, D.4    Gray, J.W.5
  • 28
    • 68349149348 scopus 로고    scopus 로고
    • The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency
    • Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, et al: The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Eur J Endocrinol 161: 237-242 (2009).
    • (2009) Eur J Endocrinol , vol.161 , pp. 237-242
    • Köhler, B.1    Lin, L.2    Mazen, I.3    Cetindag, C.4    Biebermann, H.5
  • 29
    • 0348251333 scopus 로고    scopus 로고
    • A massively parallel PicoTiterPlate based platform for discrete picoliter-scale polymerase chain reactions
    • Leamon JH: A massively parallel PicoTiterPlate based platform for discrete picoliter-scale polymerase chain reactions. Electrophoresis 24: 3769-3777 (2003).
    • (2003) Electrophoresis , vol.24 , pp. 3769-3777
    • Leamon, J.H.1
  • 31
    • 66349083856 scopus 로고    scopus 로고
    • Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9
    • Lecointre C, Pichon O, Hamel A, Heloury Y, Michel-Calemard L, et al: Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9 . Am J Med Genet A 149A:1183-1189 (2009).
    • (2009) Am J Med Genet A , vol.149 A , pp. 1183-1189
    • Lecointre, C.1    Pichon, O.2    Hamel, A.3    Heloury, Y.4    Michel-Calemard, L.5
  • 34
    • 10744231187 scopus 로고    scopus 로고
    • Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation
    • Lucito R, Healy J, Alexander J, Reiner A, Esposito D, et al: Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 13: 2291-2305 (2003).
    • (2003) Genome Res , vol.13 , pp. 2291-2305
    • Lucito, R.1    Healy, J.2    Alexander, J.3    Reiner, A.4    Esposito, D.5
  • 35
    • 27244455446 scopus 로고    scopus 로고
    • Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform
    • Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, et al: Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci 46: 3355-3362 (2005).
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 3355-3362
    • Mandal, M.N.1    Heckenlively, J.R.2    Burch, T.3    Chen, L.4    Vasireddy, V.5
  • 36
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, et al: Genome sequencing in microfabricated high-density picolitre reactors. Nature 437: 376-380 (2005).
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3    Attiya, S.4    Bader, J.S.5
  • 37
    • 0026793969 scopus 로고
    • A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY
    • McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, et al: A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY . Hum Genet 90: 121-125 (1992a).
    • (1992) Hum Genet , vol.90 , pp. 121-125
    • McElreavey, K.1    Rappaport, R.2    Vilain, E.3    Abbas, N.4    Richaud, F.5
  • 38
    • 0026442281 scopus 로고
    • XY sex reversal associated with a deletion 5 to the SRY 'HMG box' in the testis-determining region
    • McElreavey K, Vilain E, Abbas N, Costa JM, Souleyreau N, et al: XY sex reversal associated with a deletion 5 to the SRY 'HMG box' in the testis-determining region. Proc Natl Acad Sci USA 89: 11016-11020 (1992b).
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 11016-11020
    • McElreavey, K.1    Vilain, E.2    Abbas, N.3    Costa, J.M.4    Souleyreau, N.5
  • 39
    • 0033616220 scopus 로고    scopus 로고
    • Sex determination and the y chromosome
    • McElreavey K, Fellous M. Sex determination and the Y chromosome. Am J Med Genet 89: 176-185 (1999).
    • (1999) Am J Med Genet , vol.89 , pp. 176-185
    • McElreavey, K.1    Fellous, M.2
  • 40
    • 69749090013 scopus 로고    scopus 로고
    • Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
    • McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, et al: Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 19: 1527-1541 (2009).
    • (2009) Genome Res , vol.19 , pp. 1527-1541
    • McKernan, K.J.1    Peckham, H.E.2    Costa, G.L.3    McLaughlin, S.F.4    Fu, Y.5
  • 41
    • 70449698364 scopus 로고    scopus 로고
    • Next-generation gap
    • McPherson JD: Next-generation gap. Nat Methods 6(suppl 11):S2-S5 (2009).
    • (2009) Nat Methods , vol.6 , Issue.SUPPL. 11 , pp. 2-5
    • McPherson, J.D.1
  • 42
    • 70449704529 scopus 로고    scopus 로고
    • Computational methods for discovering structural variation with next-generation sequencing
    • Medvedev P, Stanciu M, Brudno M: Computational methods for discovering structural variation with next-generation sequencing. Nat Methods 6(suppl 11):S13-S20 (2009).
    • (2009) Nat Methods , vol.6 , Issue.SUPPL. 11 , pp. 13-20
    • Medvedev, P.1    Stanciu, M.2    Brudno, M.3
  • 43
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies-the next generation
    • Metzker ML: Sequencing technologies-the next generation. Nat Rev Genet 11: 31-46 (2010).
    • (2010) Nat Rev Genet , vol.11 , pp. 31-46
    • Metzker, M.L.1
  • 44
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, et al: Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272-276 (2009).
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3    Flygare, S.D.4    Bigham, A.W.5
  • 45
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, et al: Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35 (2010).
    • (2010) Nat Genet , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3    Bigham, A.W.4    Tabor, H.K.5
  • 46
    • 0033673024 scopus 로고    scopus 로고
    • Genetic evidence for a novel gene(s) involved in urogenital development on 10q26
    • Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, et al: Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58: 2281-2290 (2000).
    • (2000) Kidney Int , vol.58 , pp. 2281-2290
    • Ogata, T.1    Muroya, K.2    Sasagawa, I.3    Kosho, T.4    Wakui, K.5
  • 47
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D, Clark S, Poole I, et al: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20: 207-211 (1998).
    • (1998) Nat Genet , vol.20 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3    Clark, S.4    Poole, I.5
  • 48
    • 33846841151 scopus 로고    scopus 로고
    • Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
    • Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, et al: Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest 117: 457-463 (2007).
    • (2007) J Clin Invest , vol.117 , pp. 457-463
    • Pitteloud, N.1    Quinton, R.2    Pearce, S.3    Raivio, T.4    Acierno, J.5
  • 50
    • 42649100290 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome: Pathogenesis, diagnosis and management
    • Porter FD: Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 16: 535-541 (2008).
    • (2008) Eur J Hum Genet , vol.16 , pp. 535-541
    • Porter, F.D.1
  • 51
    • 75449089508 scopus 로고    scopus 로고
    • De novo 12; 17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development
    • Refai O, Friedman A, Terry L, Jewett T, Pearlman A, et al: 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 (2010).
    • (2010) Am J Med Genet A , vol.152 A , pp. 422-426
    • Refai, O.1    Friedman, A.2    Terry, L.3    Jewett, T.4    Pearlman, A.5
  • 53
    • 34248186062 scopus 로고    scopus 로고
    • Ovotestes and XY sex reversal in a female with an interstitial 9q33.3- q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
    • Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, et al: Ovotestes and XY sex reversal in a female with an interstitial 9q33.3- q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A 143A:1071-1081 (2007).
    • (2007) Am J Med Genet A , vol.143 A , pp. 1071-1081
    • Schlaubitz, S.1    Yatsenko, S.A.2    Smith, L.D.3    Keller, K.L.4    Vissers, L.E.5
  • 57
    • 45149093155 scopus 로고    scopus 로고
    • Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
    • Sekido R, Lovell-Badge R: Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 453: 930-934 (2008).
    • (2008) Nature , vol.453 , pp. 930-934
    • Sekido, R.1    Lovell-Badge, R.2
  • 58
    • 58149333236 scopus 로고    scopus 로고
    • Sex determination and SRY : DDown to a wink and a nudge?
    • Sekido R, Lovell-Badge R: Sex determination and SRY : down to a wink and a nudge? Trends Genet 25: 19-29 (2009).
    • (2009) Trends Genet , vol.25 , pp. 19-29
    • Sekido, R.1    Lovell-Badge, R.2
  • 60
    • 70249086529 scopus 로고    scopus 로고
    • The avian Z-linked gene DMRT1 is required for male sex determination in the chicken
    • Smith CA, Roeszler KN, Ohnesorg T, Cummins DM, Farlie PG, et al: The avian Z-linked gene DMRT1 is required for male sex determination in the chicken. Nature 461: 267-271 (2009).
    • (2009) Nature , vol.461 , pp. 267-271
    • Smith, C.A.1    Roeszler, K.N.2    Ohnesorg, T.3    Cummins, D.M.4    Farlie, P.G.5
  • 61
    • 34447291845 scopus 로고    scopus 로고
    • Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1)
    • Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, et al: Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet 122: 63-70 (2007).
    • (2007) Hum Genet , vol.122 , pp. 63-70
    • Smyk, M.1    Berg, J.S.2    Pursley, A.3    Curtis, F.K.4    Fernandez, B.A.5
  • 63
    • 60749088933 scopus 로고    scopus 로고
    • Mayer-Rokitansky-Kuster-Hauser syndrome: Recent clinical and genetic findings
    • Sultan C, Biason-Lauber A, Philibert P: Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. Gynecol Endocrinol 25: 8-11 (2009).
    • (2009) Gynecol Endocrinol , vol.25 , pp. 8-11
    • Sultan, C.1    Biason-Lauber, A.2    Philibert, P.3
  • 64
    • 64749085768 scopus 로고    scopus 로고
    • Polymorphisms of the ApoE , HSD3B1 , IL-1beta and p53 genes are associated with the development of early uremic complications in diabetic patients: Results of a DNA resequencing array study
    • Szoke D, Molnar B, Solymosi N, Racz K, Gergics P, et al: Polymorphisms of the ApoE , HSD3B1 , IL-1beta and p53 genes are associated with the development of early uremic complications in diabetic patients: results of a DNA resequencing array study. Int J Mol Med 23: 217-227 (2009).
    • (2009) Int J Mol Med , vol.23 , pp. 217-227
    • Szoke, D.1    Molnar, B.2    Solymosi, N.3    Racz, K.4    Gergics, P.5
  • 65
    • 34248233673 scopus 로고    scopus 로고
    • Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus
    • Temel SG, Gulten T, Yakut T, Saglam H, Kilic N, et al: Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus. Sex Dev 1: 24-34 (2007).
    • (2007) Sex Dev , vol.1 , pp. 24-34
    • Temel, S.G.1    Gulten, T.2    Yakut, T.3    Saglam, H.4    Kilic, N.5
  • 66
    • 70449339945 scopus 로고    scopus 로고
    • Microdroplet-based PCR enrichment for large-scale targeted sequencing
    • Tewhey R, Warner JB, Nakano M, Libby B, Medkova M, et al: Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 27: 1025-1031 (2009).
    • (2009) Nat Biotechnol , vol.27 , pp. 1025-1031
    • Tewhey, R.1    Warner, J.B.2    Nakano, M.3    Libby, B.4    Medkova, M.5
  • 67
    • 67349179787 scopus 로고    scopus 로고
    • Massively parallel exon capture and library-free resequencing across 16 genomes
    • Turner EH, Lee C, Ng SB, Nickerson DA, Shendure J: Massively parallel exon capture and library-free resequencing across 16 genomes. Nature Methods 6: 315-316 (2009).
    • (2009) Nature Methods , vol.6 , pp. 315-316
    • Turner, E.H.1    Lee, C.2    Ng, S.B.3    Nickerson, D.A.4    Shendure, J.5
  • 68
    • 71149095052 scopus 로고    scopus 로고
    • Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation
    • Uhlenhaut NH, Jakob S, Anlag K, Eisenberger T, Sekido R, et al: Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. Cell 139: 1130-1142 (2009).
    • (2009) Cell , vol.139 , pp. 1130-1142
    • Uhlenhaut, N.H.1    Jakob, S.2    Anlag, K.3    Eisenberger, T.4    Sekido, R.5
  • 69
    • 46449103738 scopus 로고    scopus 로고
    • A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning
    • Valouev A, Ichikawa J, Tonthat T, Stuart J, Ranade S, et al: A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning. Genome Res 18: 1051-1063 (2008).
    • (2008) Genome Res , vol.18 , pp. 1051-1063
    • Valouev, A.1    Ichikawa, J.2    Tonthat, T.3    Stuart, J.4    Ranade, S.5
  • 70
    • 67349158335 scopus 로고    scopus 로고
    • A unique 970 kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female
    • van Silfhout A, Boot AM, Dijkhuizen T, Hoek A, Nijman R, et al: A unique 970 kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. Eur J Med Genet 52: 157-160 (2009).
    • (2009) Eur J Med Genet , vol.52 , pp. 157-160
    • Van Silfhout, A.1    Boot, A.M.2    Dijkhuizen, T.3    Hoek, A.4    Nijman, R.5
  • 72
    • 64149123778 scopus 로고    scopus 로고
    • Nextgeneration sequencing: From basic research to diagnostics
    • Voelkerding KV, Dames SA, Durtschi JD: Nextgeneration sequencing: from basic research to diagnostics. Clin Chem 55: 641-658 (2009).
    • (2009) Clin Chem , vol.55 , pp. 641-658
    • Voelkerding, K.V.1    Dames, S.A.2    Durtschi, J.D.3
  • 73
    • 0042307371 scopus 로고    scopus 로고
    • Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations
    • Vogelstein B: Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations. Proc Natl Acad Sci USA 100: 8817-8822 (2003).
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 8817-8822
    • Vogelstein, B.1
  • 74
    • 34248150313 scopus 로고    scopus 로고
    • WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p
    • Wieacker P, Volleth M: WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p. Sex Dev 1: 111-113 (2007).
    • (2007) Sex Dev , vol.1 , pp. 111-113
    • Wieacker, P.1    Volleth, M.2
  • 75
    • 33846829951 scopus 로고    scopus 로고
    • Sex determination and gonadal development in mammals
    • Wilhelm D, Palmer S, Koopman P: Sex determination and gonadal development in mammals. Physiol Rev 87: 1-28 (2007).
    • (2007) Physiol Rev , vol.87 , pp. 1-28
    • Wilhelm, D.1    Palmer, S.2    Koopman, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.