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Items: 1 to 20 of 154

1.

Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.

Brocas H, Bühler EM, Simon P, Malik NJ, Vassart G.

Hum Genet. 1986 Oct;74(2):178-80.

PMID:
2876948
2.

[Langer-Giedion syndrome and deletion in the long arm of chromosome 8].

Zaletaev DV, Kuleshov NP, Lur'e IV, Marincheva GS.

Genetika. 1987 May;23(5):907-12. Russian.

PMID:
3497842
3.

Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.

Lüdecke HJ, Burdiek R, Senger G, Claussen U, Passarge E, Horsthemke B.

Hum Genet. 1989 Jul;82(4):327-9.

PMID:
2567694
4.

[Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].

Nemtsova MV, Iatsenko AN, Kuleshov NP, Novikov PV, Meerson EM, Zaletaev DV.

Genetika. 1996 Jul;32(7):978-84. Russian.

PMID:
8974918
5.

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, Lüdecke HJ, Sapru M, Wang Y, Chen W, Hill A, Siegel-Bartelt J, Northrup H, Elder FF, et al.

Genomics. 1995 Sep 1;29(1):87-97.

PMID:
8530105
6.

The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.

Bowen P, Biederman B, Hoo JJ.

Ann Genet. 1985;28(4):224-7.

PMID:
3879433
7.

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

Le Merrer M, Ben Othmane K, Stanescu V, Lyonnet S, Van Maldergem L, Royer G, Munnich A, Maroteaux P.

J Med Genet. 1992 Oct;29(10):713-5.

8.
9.

Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.

Yamamoto Y, Oguro N, Miyao M, Yanagisawa M.

Am J Med Genet. 1989 Jan;32(1):133-5.

PMID:
2784939
10.

Langer-Giedion syndrome with del 8 (q24.13-q24.22).

Okuno T, Inoue A, Asakura T, Nakao S.

Clin Genet. 1987 Jul;32(1):40-5.

PMID:
3502694
11.

Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.

Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B.

Hum Genet. 1999 Dec;105(6):619-28.

PMID:
10647898
12.

Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.

Riedl S, Giedion A, Schweitzer K, Müllner-Eidenböck A, Grill F, Frisch H, Lüdecke HJ.

Am J Med Genet A. 2004 Dec 1;131(2):200-3.

PMID:
15523607
13.

Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8.

Zaletajev DV, Marincheva GS.

Hum Genet. 1983;63(2):178-82.

PMID:
6840761
15.

A final word on the tricho-rhino-phalangeal syndromes.

Bühler EM, Bühler UK, Beutler C, Fessler R.

Clin Genet. 1987 Apr;31(4):273-5.

PMID:
3594935
16.

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. 2002 Dec 15;113(4):326-32.

PMID:
12457403
17.

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ.

Hum Mol Genet. 1994 Jan;3(1):167-71.

PMID:
8162019
18.
19.

Chromosome deletion and multiple cartilaginous exostoses.

Bühler EM, Bühler UK, Stalder GR, Jani L, Jurik LP.

Eur J Pediatr. 1980 Mar;133(2):163-6.

PMID:
6965910
20.

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.

Lüdecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJ, Wells DE, et al.

Hum Mol Genet. 1995 Jan;4(1):31-6.

PMID:
7711731

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