164 related articles for article (PubMed ID: 23832104)
1. An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.
Min BJ; Ko JM; Seo ME; Choi JS; Oh SK; Jeon J; Kim E; Moon JE; Choi IH; Lee C; Kim OH; Cho TJ; Park WY
Eur J Med Genet; 2013 Oct; 56(10):561-5. PubMed ID: 23832104
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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; 529(1):176-80. PubMed ID: 23933416
[TBL] [Abstract][Full Text] [Related]
4. 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]
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
Genomics; 1995 Sep; 29(1):87-97. PubMed ID: 8530105
[TBL] [Abstract][Full Text] [Related]
6. An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
Selenti N; Tzetis M; Braoudaki M; Gianikou K; Kitsiou-Tzeli S; Fryssira H
Mol Cytogenet; 2015; 8():64. PubMed ID: 26269715
[TBL] [Abstract][Full Text] [Related]
7. 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; 2011 Nov; 155A(11):2784-7. PubMed ID: 21948702
[TBL] [Abstract][Full Text] [Related]
8. Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion.
Tiberio G; Digilio MC; Giannotti A
Minerva Pediatr; 1999; 51(9-10):313-8. PubMed ID: 10783592
[TBL] [Abstract][Full Text] [Related]
9. [Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization].
Ruiz-Botero F; Pachajoa H
Arch Argent Pediatr; 2016 Aug; 114(4):e228-32. PubMed ID: 27399022
[TBL] [Abstract][Full Text] [Related]
10. Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.
Cappuccio G; Genesio R; Ronga V; Casertano A; Izzo A; Riccio MP; Bravaccio C; Salerno MC; Nitsch L; Andria G; Melis D
Am J Med Genet A; 2014 Mar; 164A(3):753-9. PubMed ID: 24357330
[TBL] [Abstract][Full Text] [Related]
11. Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.
Schinzel A; Riegel M; Baumer A; Superti-Furga A; Moreira LM; Santo LD; Schiper PP; Carvalho JH; Giedion A
Am J Med Genet A; 2013 Sep; 161A(9):2216-25. PubMed ID: 23913778
[TBL] [Abstract][Full Text] [Related]
12. Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome.
Favilla BP; Burssed B; Yamashiro Coelho ÉM; Perez ABA; de Faria Soares MF; Meloni VA; Bellucco FT; Melaragno MI
Cytogenet Genome Res; 2022; 162(1-2):46-54. PubMed ID: 35290978
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012].
Pereza N; Severinski S; Ostojić S; Volk M; Maver A; Dekanić KB; Kapović M; Peterlin B
Am J Med Genet A; 2015 Jun; 167(6):1426-7. PubMed ID: 25899858
[TBL] [Abstract][Full Text] [Related]
19. A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.
Sasaki T; Tonoki H; Soejima H; Niikawa N
J Med Genet; 1997 Apr; 34(4):335-9. PubMed ID: 9138161
[TBL] [Abstract][Full Text] [Related]
20. 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
Am J Hum Genet; 1991 Dec; 49(6):1197-206. PubMed ID: 1836105
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
