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Volumn 468, Issue 2, 2010, Pages 337-344

The otto aufranc award: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; BLOOD SAMPLING; CHILD; CHROMOSOME 17Q; CHROMOSOME IDENTIFICATION; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; DEVELOPMENTAL HIP DYSPLASIA; DNA ISOLATION; FEMALE; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HIP DYSPLASIA; HOMEOBOX; HUMAN; LINKAGE ANALYSIS; MALE; PATHOGENESIS; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; ARTICLE; AWARDS AND PRIZES; CHROMOSOME 17; CONGENITAL HIP DISLOCATION; DNA MICROARRAY; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HIP; HOSPITALIZATION; MIDDLE AGED; PHENOTYPE; RADIOGRAPHY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 76249132970     PISSN: 0009921X     EISSN: 15281132     Source Type: Journal    
DOI: 10.1007/s11999-009-1073-6     Document Type: Conference Paper
Times cited : (48)

References (35)
  • 1
    • 76449116274 scopus 로고    scopus 로고
    • Anonymous. HXB9-HUMAN UniProtKB Swiss. Available at
    • Anonymous. HXB9-HUMAN UniProtKB Swiss. Available at: http://www.uniprot. org/uniprot/P17482#section-comments. Accessed July 1, 2009.
  • 2
    • 43349089259 scopus 로고    scopus 로고
    • 50 years ago in CORR: Congenital dislocation of the hip-its causes and effects
    • 10.1007/s11999-008-0167-x 18273672
    • RA Brand 2008 50 years ago in CORR: congenital dislocation of the hip-its causes and effects Clin Orthop Relat Res. 466 1015 1016 10.1007/s11999-008- 0167-x 18273672
    • (2008) Clin Orthop Relat Res. , vol.466 , pp. 1015-1016
    • Brand, R.A.1
  • 3
    • 0026776385 scopus 로고
    • Osteogenesis imperfecta
    • 10.1146/annurev.me.43.020192.001413 1:CAS:528:DyaK38XkvVOmtb4%3D 1580589
    • PH Byers RD Steiner 1992 Osteogenesis imperfecta Annu Rev Med. 43 269 282 10.1146/annurev.me.43.020192.001413 1:CAS:528:DyaK38XkvVOmtb4%3D 1580589
    • (1992) Annu Rev Med. , vol.43 , pp. 269-282
    • Byers, P.H.1    Steiner, R.D.2
  • 4
    • 0025357988 scopus 로고
    • Beukes familial hip dysplasia: An autosomal dominant entity
    • DOI 10.1002/ajmg.1320360403
    • HJ Cilliers P Beighton 1990 Beukes familial hip dysplasia: an autosomal dominant entity Am J Med Genet. 36 386 390 10.1002/ajmg.1320360403 1:STN:280:DyaK3czlvVansQ%3D%3D 2389793 (Pubitemid 20223508)
    • (1990) American Journal of Medical Genetics , vol.36 , Issue.4 , pp. 386-390
    • Cilliers, H.J.1    Beighton, P.2
  • 6
    • 0031045236 scopus 로고    scopus 로고
    • Radiographic measurements of dysplastic adult hips
    • DOI 10.1007/s002560050197
    • S Delaunay RG Dussault PA Kaplan BA Alford 1997 Radiographic measurements of dysplastic adult hips Skeletal Radiol. 26 75 81 10.1007/s002560050197 1:STN:280:DyaK2s3htlegsA%3D%3D 9060097 (Pubitemid 27084769)
    • (1997) Skeletal Radiology , vol.26 , Issue.2 , pp. 75-81
    • Delaunay, S.1    Dussault, R.G.2    Kaplan, P.A.3    Alford, B.A.4
  • 7
    • 0036782276 scopus 로고    scopus 로고
    • Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia
    • 10.1097/00003086-200210000-00018 12360016
    • D Granchi S Stea A Sudanese A Toni N Baldini A Giunti 2002 Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia Clin Orthop Relat Res. 403 108 117 10.1097/00003086-200210000-00018 12360016
    • (2002) Clin Orthop Relat Res. , vol.403 , pp. 108-117
    • Granchi, D.1    Stea, S.2    Sudanese, A.3    Toni, A.4    Baldini, N.5    Giunti, A.6
  • 8
    • 0023026367 scopus 로고
    • Etiology of osteoarthritis of the hip
    • 3780093
    • WH Harris 1986 Etiology of osteoarthritis of the hip Clin Orthop Relat Res. 213 20 33 3780093
    • (1986) Clin Orthop Relat Res. , vol.213 , pp. 20-33
    • Harris, W.H.1
  • 9
    • 4744340414 scopus 로고    scopus 로고
    • Dlx3 transcriptional regulation of osteoblast differentiation: Temporal recruitment of Msx2, Dlx3, and Dlx5 homeodomain proteins to chromatin of the osteocalcin gene
    • DOI 10.1128/MCB.24.20.9248-9261.2004
    • MQ Hassan A Javed MI Morasso J Karlin M Montecino AJ van Wijnen GS Stein JL Stein JB Lian 2004 Dlx3 transcriptional regulation of osteoblast differentiation: temporal recruitment of Msx2, Dlx3, and Dlx5 homeodomain proteins to chromatin of the osteocalcin gene Mol Cell Biol. 24 9248 9261 10.1128/MCB.24.20.9248-9261.2004 1:CAS:528:DC%2BD2cXotl2mu7o%3D 15456894 (Pubitemid 39313925)
    • (2004) Molecular and Cellular Biology , vol.24 , Issue.20 , pp. 9248-9261
    • Hassan, M.Q.1    Javed, A.2    Morasso, M.I.3    Karlin, J.4    Montecino, M.5    Van Wijnen, A.J.6    Stein, G.S.7    Stein, J.L.8    Lian, J.B.9
  • 11
    • 20644450356 scopus 로고    scopus 로고
    • Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population [in Chinese]
    • 1:CAS:528:DC%2BD28XmtFKnsA%3D%3D 15952128
    • J Jiang HW Ma QW Li JF Lu GH Niu LJ Zhang SJ Ji 2005 Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population [in Chinese] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 22 327 329 1:CAS:528:DC%2BD28XmtFKnsA%3D%3D 15952128
    • (2005) Zhonghua Yi Xue Yi Chuan Xue Za Zhi. , vol.22 , pp. 327-329
    • Jiang, J.1    Ma, H.W.2    Li, Q.W.3    Lu, J.F.4    Niu, G.H.5    Zhang, L.J.6    Ji, S.J.7
  • 12
    • 0037497132 scopus 로고    scopus 로고
    • Transmission disequilibrium test for congenital dislocation of the hip and HOXB9 gene or COL1AI gene [in Chinese]
    • 1:CAS:528:DC%2BD2cXjtlGqsbY%3D 12778441
    • J Jiang HW Ma Y Lu YP Wang Y Wang QW Li SJ Ji 2003 Transmission disequilibrium test for congenital dislocation of the hip and HOXB9 gene or COL1AI gene [in Chinese] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 20 193 195 1:CAS:528:DC%2BD2cXjtlGqsbY%3D 12778441
    • (2003) Zhonghua Yi Xue Yi Chuan Xue Za Zhi. , vol.20 , pp. 193-195
    • Jiang, J.1    Ma, H.W.2    Lu, Y.3    Wang, Y.P.4    Wang, Y.5    Li, Q.W.6    Ji, S.J.7
  • 13
    • 0036984480 scopus 로고    scopus 로고
    • The importance of predicted risk factors in developmental hip dysplasia: An ultrasonographic screening program [in Turkish]
    • 12510090
    • L Karapinar F Surenkok H Ozturk MR Us L Yurdakul 2002 The importance of predicted risk factors in developmental hip dysplasia: an ultrasonographic screening program [in Turkish] Acta Orthop Traumatol Turc. 36 106 110 12510090
    • (2002) Acta Orthop Traumatol Turc. , vol.36 , pp. 106-110
    • Karapinar, L.1    Surenkok, F.2    Ozturk, H.3    Us, M.R.4    Yurdakul, L.5
  • 15
    • 0026772226 scopus 로고
    • Respecification of vertebral identities by retinoic acid
    • 1:CAS:528:DyaK38Xls1yhu7w%3D 1358593
    • M Kessel 1992 Respecification of vertebral identities by retinoic acid Development. 115 487 501 1:CAS:528:DyaK38Xls1yhu7w%3D 1358593
    • (1992) Development. , vol.115 , pp. 487-501
    • Kessel, M.1
  • 16
    • 0024591093 scopus 로고
    • Congenital dislocation of the hip-a misleading term: Brief report
    • 1:STN:280:DyaL1M7itlGgsQ%3D%3D 2914985
    • PJ Klisic 1989 Congenital dislocation of the hip-a misleading term: brief report J Bone Joint Surg Br. 71 136 1:STN:280:DyaL1M7itlGgsQ%3D%3D 2914985
    • (1989) J Bone Joint Surg Br. , vol.71 , pp. 136
    • Klisic, P.J.1
  • 17
    • 0033365060 scopus 로고    scopus 로고
    • Stratification analysis of an osteoarthritis genome screen - Suggestive linkage to chromosomes 4, 6, and 16 [7]
    • DOI 10.1086/302685
    • J Loughlin Z Mustafa C Irven A Smith AJ Carr B Sykes K Chapman 1999 Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16 Am J Hum Genet. 65 1795 1798 10.1086/302685 1:CAS:528:DC%2BD3cXjvFeksw%3D%3D 10577938 (Pubitemid 30468696)
    • (1999) American Journal of Human Genetics , vol.65 , Issue.6 , pp. 1795-1798
    • Loughlin, J.1    Mustafa, Z.2    Irven, C.3    Smith, A.4    Carr, A.J.5    Sykes, B.6    Chapman, K.7
  • 18
    • 33644666320 scopus 로고    scopus 로고
    • The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population
    • DOI 10.1016/j.joca.2005.11.001, PII S1063458405003134
    • J Loughlin JS Sinsheimer A Carr K Chapman 2006 The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population Osteoarthritis Cartilage. 14 295 298 10.1016/j.joca.2005. 11.001 1:STN:280:DC%2BD287ktlCmuw%3D%3D 16359877 (Pubitemid 43329540)
    • (2006) Osteoarthritis and Cartilage , vol.14 , Issue.3 , pp. 295-298
    • Loughlin, J.1    Sinsheimer, J.S.2    Carr, A.3    Chapman, K.4
  • 19
    • 33745242380 scopus 로고    scopus 로고
    • Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q
    • DOI 10.1086/505088
    • A Mabuchi S Nakamura Y Takatori S Ikegawa 2006 Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q Am J Hum Genet. 79 163 168 10.1086/505088 1:CAS:528:DC%2BD28Xmt1entLw%3D 16773577 (Pubitemid 43927388)
    • (2006) American Journal of Human Genetics , vol.79 , Issue.1 , pp. 163-168
    • Mabuchi, A.1    Nakamura, S.2    Takatori, Y.3    Ikegawa, S.4
  • 20
    • 26944447833 scopus 로고    scopus 로고
    • Differential regulation of avian pelvic girdle development by the limb field ectoderm
    • DOI 10.1007/s00429-005-0014-8
    • Y Malashichev V Borkhvardt B Christ M Scaal 2005 Differential regulation of avian pelvic girdle development by the limb field ectoderm Anat Embryol (Berl) 210 187 197 10.1007/s00429-005-0014-8 (Pubitemid 41483257)
    • (2005) Anatomy and Embryology , vol.210 , Issue.3 , pp. 187-197
    • Malashichev, Y.1    Borkhvardt, V.2    Christ, B.3    Scaal, M.4
  • 21
    • 36849064777 scopus 로고    scopus 로고
    • Mapping quantitative trait loci for canine hip dysplasia in German Shepherd dogs
    • DOI 10.1007/s00335-007-9071-z
    • Y Marschall O Distl 2007 Mapping quantitative trait loci for canine hip dysplasia in German Shepherd dogs Mamm Genome. 18 861 870 10.1007/s00335-007- 9071-z 18027024 (Pubitemid 50004252)
    • (2007) Mammalian Genome , vol.18 , Issue.12 , pp. 861-870
    • Marschall, Y.1    Distl, O.2
  • 23
    • 0029017775 scopus 로고
    • The prognosis in untreated dysplasia of the hip. A study of radiographic factors that predict the outcome
    • 1:STN:280:DyaK2Mzjt1ertA%3D%3D 7608241
    • SB Murphy R Ganz ME Muller 1995 The prognosis in untreated dysplasia of the hip. A study of radiographic factors that predict the outcome J Bone Joint Surg Am. 77 985 989 1:STN:280:DyaK2Mzjt1ertA%3D%3D 7608241
    • (1995) J Bone Joint Surg Am. , vol.77 , pp. 985-989
    • Murphy, S.B.1    Ganz, R.2    Muller, M.E.3
  • 25
    • 0032920074 scopus 로고    scopus 로고
    • Reliability of radiological measurements in the assessment of hip dysplasia in adults
    • 1:STN:280:DyaK1MvgtlOguw%3D%3D 10474491
    • M Nelitz KP Guenther S Gunkel W Puhl 1999 Reliability of radiological measurements in the assessment of hip dysplasia in adults Br J Radiol. 72 331 334 1:STN:280:DyaK1MvgtlOguw%3D%3D 10474491
    • (1999) Br J Radiol. , vol.72 , pp. 331-334
    • Nelitz, M.1    Guenther, K.P.2    Gunkel, S.3    Puhl, W.4
  • 26
    • 0033092086 scopus 로고    scopus 로고
    • Retroversion of the acetabulum
    • DOI 10.1302/0301-620X.81B2.8291
    • D Reynolds J Lucas K Klaue 1999 Retroversion of the acetabulum. A cause of hip pain J Bone Joint Surg Br. 81 281 288 10.1302/0301-620X.81B2.8291 1:STN:280:DyaK1M3hvFKksg%3D%3D 10204935 (Pubitemid 29327067)
    • (1999) Journal of Bone and Joint Surgery - Series B , vol.81 , Issue.2 , pp. 281-288
    • Reynolds, D.1    Lucas, J.2    Klaue, K.3
  • 27
    • 67650409976 scopus 로고    scopus 로고
    • Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population
    • 10.1016/j.joca.2008.12.012 1:STN:280:DC%2BD1MvptFWrtw%3D%3D 19341834
    • K Rouault V Scotet S Autret F Gaucher F Dubrana D Tanguy C Yaacoub El Rassi B Fenoll C Ferec 2009 Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population Osteoarthritis Cartilage. 17 1099 1105 10.1016/j.joca.2008.12.012 1:STN:280: DC%2BD1MvptFWrtw%3D%3D 19341834
    • (2009) Osteoarthritis Cartilage. , vol.17 , pp. 1099-1105
    • Rouault, K.1    Scotet, V.2    Autret, S.3    Gaucher, F.4    Dubrana, F.5    Tanguy, D.6    Yaacoub El Rassi, C.7    Fenoll, B.8    Ferec, C.9
  • 28
    • 43349083829 scopus 로고    scopus 로고
    • Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes
    • 10.1007/s11999-008-0120-z 18288556
    • M Rubini A Cavallaro E Calzolari G Bighetti V Sollazzo 2008 Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes Clin Orthop Relat Res. 466 878 883 10.1007/s11999-008-0120-z 18288556
    • (2008) Clin Orthop Relat Res. , vol.466 , pp. 878-883
    • Rubini, M.1    Cavallaro, A.2    Calzolari, E.3    Bighetti, G.4    Sollazzo, V.5
  • 29
    • 44649199322 scopus 로고    scopus 로고
    • Developmental dysplasia of the hip: Risk markers, clinical screening and outcome
    • DOI 10.1111/j.1442-200X.2008.02575.x
    • C Stein-Zamir I Volovik S Rishpon R Sabi 2008 Developmental dysplasia of the hip: risk markers, clinical screening and outcome Pediatr Int. 50 341 345 10.1111/j.1442-200X.2008.02575.x 18533949 (Pubitemid 351781499)
    • (2008) Pediatrics International , vol.50 , Issue.3 , pp. 341-345
    • Stein-Zamir, C.1    Volovik, I.2    Rishpon, S.3    Sabi, R.4
  • 30
    • 0037558452 scopus 로고    scopus 로고
    • Genetic Structure of Susceptibility Traits for Hip Dysplasia and Microsatellite Informativeness of an Outcrossed Canine Pedigree
    • DOI 10.1093/jhered/esg006
    • RJ Todhunter SP Bliss G Casella R Wu G Lust NI Burton-Wurster AJ Williams RO Gilbert GM Acland 2003 Genetic structure of susceptibility traits for hip dysplasia and microsatellite informativeness of an outcrossed canine pedigree J Hered. 94 39 48 10.1093/jhered/esg006 1:CAS:528:DC%2BD3sXktVWhu7w%3D 12692161 (Pubitemid 37553180)
    • (2003) Journal of Heredity , vol.94 , Issue.1 , pp. 39-48
    • Todhunter, R.J.1    Bliss, S.P.2    Casella, G.3    Wu, R.4    Lust, G.5    Burton-Wurster, N.I.6    Williams, A.J.7    Gilbert, R.O.8    Acland, G.M.9
  • 31
    • 0038105888 scopus 로고    scopus 로고
    • Acetabular and femoral anteversion: Relationship with osteoarthritis of the hip
    • 1:STN:280:DC%2BD3c%2FnsVSltQ%3D%3D 10608388
    • D Tonnis A Heinecke 1999 Acetabular and femoral anteversion: relationship with osteoarthritis of the hip J Bone Joint Surg Am. 81 1747 1770 1:STN:280:DC%2BD3c%2FnsVSltQ%3D%3D 10608388
    • (1999) J Bone Joint Surg Am. , vol.81 , pp. 1747-1770
    • Tonnis, D.1    Heinecke, A.2
  • 33
    • 50249156772 scopus 로고    scopus 로고
    • Expression of COL1a1 and COL3a1 in the capsule of children with developmental dislocation of the hip [in Chinese]
    • 1:CAS:528:DC%2BD1MXmt12ks7Y%3D 18706171
    • EB Wang Q Zhao LY Li LW Shi H Gao 2008 Expression of COL1a1 and COL3a1 in the capsule of children with developmental dislocation of the hip [in Chinese] Zhongguo Dang Dai Er Ke Za Zhi. 10 493 496 1:CAS:528:DC%2BD1MXmt12ks7Y%3D 18706171
    • (2008) Zhongguo Dang Dai Er Ke Za Zhi. , vol.10 , pp. 493-496
    • Wang, E.B.1    Zhao, Q.2    Li, L.Y.3    Shi, L.W.4    Gao, H.5
  • 34
    • 0023485773 scopus 로고
    • Natural history of congenital hip dislocation (CDH) and hip dysplasia
    • 3315382
    • SL Weinstein 1987 Natural history of congenital hip dislocation (CDH) and hip dysplasia Clin Orthop Relat Res. 225 62 76 3315382
    • (1987) Clin Orthop Relat Res. , vol.225 , pp. 62-76
    • Weinstein, S.L.1
  • 35
    • 0026645749 scopus 로고
    • Etiologic factors in congenital displacement of the hip and myelodysplasia
    • 1499231
    • JA Wilkinson 1992 Etiologic factors in congenital displacement of the hip and myelodysplasia Clin Orthop Relat Res. 281 75 83 1499231
    • (1992) Clin Orthop Relat Res. , vol.281 , pp. 75-83
    • Wilkinson, J.A.1


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