1 | TRPS1, TRPS2
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| Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.
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| Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Dekanić KB, Kapović M, Peterlin B.
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| Am J Med Genet A 158A(3):659-63. doi: 10.1002/ajmg.a.35201. Epub 2012 Feb 7. 2012
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2 | TRPS2
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| Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion.
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| Carvalho DR, Santos SC, Oliveira MD, Speck-Martins CE.
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| Am J Med Genet A m J Med Genet A. 2011 Sep 21. doi: 10.1002/ajmg.a.34233. [Epub ahead of print] 2011
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3 | TRPS2
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| An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
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| Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM.
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| Eur J Med Genet 52(5):353-7. Epub 2009 May 21.
2009
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4 | TRPS2, EXT1
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| Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.
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| McBrien J, Crolla JA, Huang S, Kelleher J, Gleeson J, Lynch SA.
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| Am J Med Genet A 146A(12):1587-92. 2008
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5 | TRPS2
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| Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13).
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| Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ.
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| Am J Med Genet A 146A(24):3211-3216. [Epub ahead of print]
2008
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6 | HTC1, TRPS1, TRPS2
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| Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.
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| Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L.
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| Am J Med Genet 113(4):326-32.
2002
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7 | TRPS2
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| Tibial hemimelia in langer-giedion syndrome-possible gene location for tibial hemimelia at 8q.
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| Stevens CA, et al.
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| Am J Med Genet 85(4):409-12. 1999
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8 | EIF3H,TRPS1,TRPS2
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| Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.
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| Ludecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B.
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| Hum Genet 105(6):619-28 1999
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9 | EXT1, TRPS1, TRPS2
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| A 4-Megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1 : use in refining the location of the Trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).
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| Hou J, Parrish J, Ludecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF, et al.
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| Genomics 29 : 87-97. 1995
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10 | TRPS2, TRPS1, EXT1
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| Molecular dissection of a contiguous gene syndrome : localization of the genes involved in the Langer-Giedion syndrome.
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| LŸdecke HJ, et al.
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| Hum Mol Genet 4 : 31-36. 1995
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11 | TRPS2
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| Detailed characterization of a human 8q24.1 microdissection library and generation of sequence-tagged sites.
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| La Pillo B, et al.
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| Cytogenet Cell Genet 63 : 185-188. 1993
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12 | TRPS2, EXT1
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| The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
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| Le Merrer M, et al.
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| J Med Genet 29 : 713-715. 1992
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13 | TRPS2
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| Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.
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| Ramos FJ, et al.
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| Am J Med Genet 44 : 790-794. 1992
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14 | TRPS2
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| Molecular analysis of overlapping chromosomal deletions in patients with Langer-Giedion syndrome.
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| Parrish JE, et al.
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| Genomics 11 : 54-61. 1991
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15 | TRPS2, EXT1
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| Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).
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| Ogle RF, et al.
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| J Med Genet 28 : 881-883. 1991
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16 | TRPS2
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| Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.
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| LŸdecke HJ, et al.
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| Am J Hum Genet 49 : 1197-1206. 1991
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17 | TRPS2
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| Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.
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| Fennell SJ, et al.
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| J Med Genet 26 : 167-171. 1989
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18 | TRPS2, D8S42, D8S43, D8S44, D8S45, D8S46, D8S47, D8S48, D8S49, D8S50, D8S51, D8S52
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| Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification.
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| LŸdecke HJ, et al.
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| Nature 338 : 348-350. 1989
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19 | EYA1, TRPS2
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| Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
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| Haan EA, et al.
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| Am J Med Genet 32 : 490-494. 1989
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20 | TRPS2
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| Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.
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| Ludecke HJ, Burdiek R, Senger G, Claussen U, Passarge E, Horsthemke B.
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| Hum Genet 82 : 327-329. 1989
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21 | TRPS2, TRPS1
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| A final word on the tricho-rhino-phalangeal syndromes.
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| BŸhler EM, et al.
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| Clin Genet 31 : 273-275. 1987
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22 | TRPS2
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| Langer-Giedion syndrome with del 8 (q24.13-q24.22).
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| Okuno T, et al.
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| Clin Genet 32 : 40-45. 1987
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23 | TRPS2
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| 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I.
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| Fryns JP, et al.
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| Hum Genet 74 : 188-189. 1986
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24 | TRPS2
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| The critical segment for the Langer-Giedion syndrome : 8q24.11--q24.12.
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| Bowen P, et al.
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| Ann Genet 28 : 224-227. 1985
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25 | TRPS2
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| Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23-q21.1).
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| Shabtai F, et al.
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| Clin Genet 27 : 600-605. 1985
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26 | TRPS2, TRPS1
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| The tricho-rhino-phalangeal syndrome(s) : chromosome 8 long arm deletion is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?
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| BŸhler EM, et al.
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| Am J Med Genet 19 : 113-119. 1984
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27 | TRPS2
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| Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.
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| Zaletajev DV, et al.
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| Hum Genet 63 : 178-182. 1983
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28 | TRPS2
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| Langer-Giedion syndrome and deletion of the long arm of chromosome 8.Confirmation of the critical segment to 8q23.
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| Fryns JP, et al.
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| Hum Genet 64 : 194-195. 1983
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29 | TRPS2
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| Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13).
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| Fukushima Y, et al.
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| Hum Genet 64 : 90-93. 1983
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30 | TRPS2
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| Langer-Giedion syndrome with and without del 8q. Assignment of critical segment to 8q23.
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| Turleau C, Chavin-Colin F, de Grouchy J, Maroteaux P, Rivera H.
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| Hum Genet 62 : 183-187. 1982
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31 | TRPS2
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| Langer-Giedion syndrome with interstitial 8q- deletion.
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| Zabel BU, Baumann WA.
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| Am J Med Genet 11 : 353-358. 1982
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32 | TRPS2
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| Langer-Giedion syndrome and deletion of the long arm of chromosome 8.
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| Fryns JP, Logghe N, van Eygen M, Van den Berghe H.
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| Hum Genet 58 : 231-232. 1981
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33 | TRPS2
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| Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8: 46,XY,del 8(q13-22).
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| Pfeiffer RA.
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| Clin Genet 18 : 142-146. 1980
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34 | TRPS2, TRPS1
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| Small structural changes of chromosome 8.
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| Beighle C, et al.
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| Hum Genet 38 : 113-121. 1977
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