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