134 related articles for article (PubMed ID: 31976145)
1. Mixed Phenotype of Langer-Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without
Herrero-García A; Marín-Reina P; Cabezuelo-Huerta G; Ferrer-Lorente MB; Rosello M; Orellana C; Martínez F; Pérez-Aytés A
J Pediatr Genet; 2020 Mar; 9(1):53-57. PubMed ID: 31976145
[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. 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]
6. [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]
7. 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]
8. Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.
Li Q; Zhang Z; Yan Y; Xiao P; Gao Z; Cheng W; Su L; Yu K; Xie H; Chen X; Jiang Q; Li L
Mol Cytogenet; 2015; 8():95. PubMed ID: 26673557
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Erratum to: 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; Giannikou K; Kitsiou-Tzeli S; Fryssira H
Mol Cytogenet; 2015; 8():73. PubMed ID: 26430469
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Trichorhinophalangeal syndrome type II presenting with short stature in a child.
Hazan F; Korkmaz HA; Yararbaş K; Wuyts W; Tükün A;
Arch Argent Pediatr; 2016 Dec; 114(6):e403-e407. PubMed ID: 27869420
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report.
Iftikhar A; Barnes K; Figueroa M; Francis AP
AJP Rep; 2024 Jan; 14(1):e31-e33. PubMed ID: 38269131
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
