125 related articles for article (PubMed ID: 10647903)
1. The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene.
Schmidt O; von Holtum D; Gross S; Horsthemke B; Lüdecke HJ
Hum Genet; 1999 Dec; 105(6):662-4. PubMed ID: 10647903
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 10647898
[TBL] [Abstract][Full Text] [Related]
3. 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
Genomics; 1995 Sep; 29(1):87-97. PubMed ID: 8530105
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 10615131
[TBL] [Abstract][Full Text] [Related]
5. 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
Hum Mol Genet; 1995 Jan; 4(1):31-6. PubMed ID: 7711731
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 9150732
[TBL] [Abstract][Full Text] [Related]
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; 131(2):200-3. PubMed ID: 15523607
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 25792522
[TBL] [Abstract][Full Text] [Related]
9. 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; 2008 Jun; 146A(12):1587-92. PubMed ID: 18478595
[TBL] [Abstract][Full Text] [Related]
10. Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome.
Flores-Cuevas A; Mutchinick O; Morales-Suárez JJ; González-Huerta LM; Cuevas-Covarrubias SA
J Investig Med; 2012 Jun; 60(5):823-6. PubMed ID: 22481165
[TBL] [Abstract][Full Text] [Related]
11. [Langer-Giedion syndrome(tricho-rhino-phalangeal syndrome, type II; TRPS II)].
Fukushima Y
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):203-4. PubMed ID: 11057196
[No Abstract] [Full Text] [Related]
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. PubMed ID: 8974918
[TBL] [Abstract][Full Text] [Related]
13. Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q.
Stevens CA; Moore CA
Am J Med Genet; 1999 Aug; 85(4):409-12. PubMed ID: 10398269
[TBL] [Abstract][Full Text] [Related]
14. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.
Kobayashi H; Hino M; Shimodahira M; Iwakura T; Ishihara T; Ikekubo K; Ogawa Y; Nakao K; Kurahachi H
Am J Med Genet; 2002 Jan; 107(1):26-9. PubMed ID: 11807863
[TBL] [Abstract][Full Text] [Related]
15. 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; 71(2):192-9. PubMed ID: 11161813
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.
Chen CP; Lin MH; Chen YY; Chern SR; Chen YN; Wu PS; Pan CW; Lee MS; Wang W
Taiwan J Obstet Gynecol; 2015 Oct; 54(5):592-6. PubMed ID: 26522117
[TBL] [Abstract][Full Text] [Related]
17. 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; 2012 Mar; 158A(3):659-63. PubMed ID: 22315192
[TBL] [Abstract][Full Text] [Related]
18. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
Crippa M; Bestetti I; Perotti M; Castronovo C; Tabano S; Picinelli C; Grassi G; Larizza L; Pincelli AI; Finelli P
BMC Med Genet; 2014 May; 15():52. PubMed ID: 24886451
[TBL] [Abstract][Full Text] [Related]
19. 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; 146A(24):3211-6. PubMed ID: 19012352
[TBL] [Abstract][Full Text] [Related]
20. Mapping the amplification of EIF3S3 in breast and prostate cancer.
Nupponen NN; Isola J; Visakorpi T
Genes Chromosomes Cancer; 2000 Jun; 28(2):203-10. PubMed ID: 10825005
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
