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Items: 1 to 20 of 226

1.

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
2.

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
3.

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
4.

The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions.

Nardmann J, Tranebjaerg L, Horsthemke B, Lüdecke HJ.

Hum Genet. 1997 May;99(5):638-43.

PMID:
9150732
6.

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ.

Nat Genet. 2000 Jan;24(1):71-4.

PMID:
10615131
7.

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
8.

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).

Ahn J, Lüdecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE.

Nat Genet. 1995 Oct;11(2):137-43.

PMID:
7550340
9.

An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome.

Hilton MJ, Gutiérrez L, Zhang L, Moreno PA, Reddy M, Brown N, Tan Y, Hill A, Wells DE.

Genomics. 2001 Jan 15;71(2):192-9.

PMID:
11161813
10.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC.

Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PMID:
25792522
11.

[Langer-Giedion syndrome(tricho-rhino-phalangeal syndrome, type II; TRPS II)].

Fukushima Y.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):203-4. Review. Japanese. No abstract available.

PMID:
11057196
12.

[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
14.
15.

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.

Lüdecke HJ, Johnson C, Wagner MJ, Wells DE, Turleau C, Tommerup N, Latos-Bielenska A, Sandig KR, Meinecke P, Zabel B, et al.

Am J Hum Genet. 1991 Dec;49(6):1197-206.

17.
18.

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
19.

An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.

Chen CP, Lin SP, Liu YP, Chern SR, Wu PS, Su JW, Chen YT, Lee CC, Wang W.

Gene. 2013 Oct 15;529(1):176-80. doi: 10.1016/j.gene.2013.07.045. Epub 2013 Aug 7.

PMID:
23933416
20.

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. 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615.

PMID:
19012352

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