| 1 | DUP2QM, HOXD@, MMDK
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| A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
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| Cho TJ, Kim OH, Choi IH, Nishimura G, Superti-Furga A, Kim KS, Lee YJ, Park WY.
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| J Med Genet Med Genet. 2010 Jun 24. [Epub ahead of print]PMID: 20577005 2010
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| 2 | DEL2Q31, DUP2Q31, DUP2QM, HOXD@, MMDK
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| Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
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| Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S.
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| Eur J Hum Genet 18(12):1310-1314. Epub 2010 Jul 21.PMID: 20648051 2010
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| 3 | DEL2Q31, HOXD@
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| A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.
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| Tsai LP, Liao HM, Chen YJ, Fang JS, Chen CH.
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| Clin Genet 75(5):449-56.
2009
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| 4 | DEL2Q31, HOXD@ , TCOF1
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| Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.
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| Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST.
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| Am J Med Genet A 143(10):1053-9. 2007
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| 5 | HOXD@, DEL2Q31
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| Breakpoints around the HOXD cluster result in various limb malformations.
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| Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM.
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| J Med Genet 43(2):111-8. Epub 2005 Jun 24. 2006
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| 6 | HOXA@, HOXD@
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| Early developmental arrest of mammalian limbs lacking HoxA/HoxD gene function.
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| Kmita M, Tarchini B, Zakany J, Logan M, Tabin CJ, Duboule D.
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| Nature 435(7045):1113-6. 2005
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| 7 | EVX2, HOXD@, HOXD10, HOXD11, HOXD12, HOXD13, HOXD9, PSDY2, SHFM5, DEL2Q31
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| A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
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| Goodman FR, Majewski F, Collins AL, Scambler PJ.
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| Am J Hum Genet 70(2):547-55. 2002
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| 8 | DEL2Q31, HOXD1, HOXD@
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| A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.
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| Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto ML, Antonarakis S, Ventruto V, Duboule D.
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| Genomics 79(4):493-8. 2002
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| 9 | DEL2Q31,HFG,HOXA@,HOXB@,HOXC@,HOXD@,PSDY2,SDTY5
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| Limb malformations and the human HOX genes.
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| Goodman FR.
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| Am J Med Genet 112(3):256-65. Review. 2002
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| 10 | HOXD1, HOXD11, HOXD4, HOXD8, HOXD@
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| Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1.
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| Limongi MZ, Pelliccia F, Gaddini L, Rocchi A.
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| Cytogenet Cell Genet 90(1-2):151-3. 2000
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| 11 | HOXD@, DEL2Q31
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| Monodactylous Limbs and Abnormal Genitalia Are Associated with Hemizygosity for the Human 2q31 Region That Includes the HOXD Cluster.
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| Del Campo M, et al.
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| Am J Hum Genet 65(1):104-110. 1999
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| 12 | HOXA@, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA11, HOXB@, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB7, HOXB8, HOXB9, HOXC@, HOXD@, HOXD1, HOXD10, HOXD11, HOXD12, HOXD9, HOXD3, HOXD4
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| Fine mapping of human HOX gene clusters.
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| Apiou F, et al.
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| Cytogenet Cell Genet 73 : 114-115. 1996
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| 13 | HOXA@, HOXB@, HOXC@, HOXD@
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| Analysis of Hox gene expression in the chick limb bud.
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| Nelson CE, et al.
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| Development 122(5):1449-66. 1996
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| 14 | HOXD@, DEL2Q31
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| Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.
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| Boles RG, Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL.
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| Am J Med Genet 55(2):155-60. Review. 1995
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| 15 | HOXD@
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| Order of six loci at 2q24-q31 and orientation of the HOXD locus.
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| Rossi E, et al.
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| Genomics 24 : 34-40. 1994
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| 16 | HOXA@, HOXB@, HOXC@, HOXD@, HOXA2
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| Vertebrate homeobox gene nomenclature.
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| Scott MP.
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| Cell 71 : 551-553. 1992
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| 17 | HOXA@, HOXB@, HOXC@, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HOXC10, HOXC11, HOXC12, HOXC13, HOXD@
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| Detection of homeobox genes in development and evolution.
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| Murtha MT, et al.
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| Proc Natl Acad Sci U S A 88 : 10711-10715. 1991
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| 18 | HOXD@, EVX2
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| EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2.
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| D'Esposito M, et al.
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| Genomics 10 : 43-50. 1991
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| 19 | HOXA@, HOXB@, HOXC@, HOXD@
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| Nomenclature for human homeobox genes.
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| McAlpine PJ, et al.
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| Genomics 7 : 460. 1990
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| 20 | HOXA@, HOXB@, HOXC@, HOXD@
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| An update of mouse and human HOX gene nomenclature.
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| Duboule D, et al.
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| Genomics 7 : 458-459. 1990
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| 21 | HOXA@, HOXB@, HOXC@, HOXD@, D12S44, D12S45, D12S46, D12S47, D12S48, D12S49
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| The human HOX gene family.
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| Acampora D, et al.
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| Nucleic Acids Res 17 : 10385-10402. 1989
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| 22 | HOXD@, DEL2Q31
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| A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.
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| Ramer JC, Ladda RL, Frankel CA, Beckford A.
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| Am J Med Genet 32(3):359-63. Review. 1989
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| 23 | HOXA@, HOXB@, HOXC@, HOXD@
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| Organization of human homeobox genes.
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| Boncinelli E, et al.
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| Hum Reprod 3 : 880-886. 1988
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| 24 | HOXB@, HOXC@, HOXD@
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| Human homeo box-containing genes located at chromosome regions 2q31-q37 and 12q12-q13.
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| Cannizzaro LA, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 589. 1987
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| 25 | HOXA@, HOXB@, HOXC@, HOXD@
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| Expression analysis of four human homeo box genes during embryonic development.
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| Boncinelli E.
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| EMBO Workshop 1986
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