|1.||Genetic Translocation (Chromosomal Translocation)
|3.||Multiple Hereditary Exostoses (Hereditary Multiple Exostoses)
|4.||Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)
|5.||Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome)
|1.||Ostojić, Saša: 1 article (06/2015)|
|2.||Peterlin, Borut: 1 article (06/2015)|
|3.||Severinski, Srećko: 1 article (06/2015)|
|4.||Maver, Aleš: 1 article (06/2015)|
|5.||Volk, Marija: 1 article (06/2015)|
|6.||Pereza, Nina: 1 article (06/2015)|
|7.||Kapović, Miljenko: 1 article (06/2015)|
|8.||Dekanić, Kristina Baraba: 1 article (06/2015)|
|9.||Jiang, Qian: 1 article (01/2015)|
|10.||Yan, Yuchun: 1 article (01/2015)|
01/01/1985 - "In the study of both fresh and cultured cells, we demonstrated a correlation between variant chromosomal translocations and light-chain types, the cells from patients with a t(2;8) translocation expressing kappa and those with a t(8;22) expressing lambda chains, with one exception Vimentin expression was absent or weak in most BLs studied (lines or fresh cells) and in cells from patients with Langer-Giedion syndrome, in contrast to most other lymphomas and leukaemias and normal lymphoblastoid cell lines."
07/01/1984 - "However, low expression of vimentin was also found in 3 LCL derived from patients with the Langer-Giedion syndrome, which is characterized by a deletion of the distal end of chromosome 8. Treatment of vimentin-negative BLCL and Langer-Giedion LCL with azacytidine led to a transient reexpression of vimentin."
10/01/1986 - "We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient with Langer-Giedion syndrome and 8q deletion in order to: (1) localize the Langer-Giedion deletion more precisely, (2) define the relative map positions of the thyroglobulin gene and the Langer-Giedion locus. "
12/01/1991 - "The Langer-Giedion syndrome (LGS), which is characterized by craniofacial dysmorphism and skeletal abnormalities, is caused by a genetic defect in 8q24.1. We have used 13 anonymous DNA markers from an 8q24.1-specific microdissection library, as well as c-myc and thyroglobulin gene probes, to map the deletion breakpoints in 16 patients with LGS. "
|3.||DNA (Deoxyribonucleic Acid)IBA
07/01/1989 - "The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. "
03/23/1989 - "Here we describe the dissection of the Langer-Giedion syndrome region on chromosome 8 from GTG-banded metaphase chromosomes (G-banding with trypsin-Giemsa) and the universal enzymatic amplification of the dissected DNA. "
|4.||Chromosome 8 deletionIBA
|5.||Absence of TibiaIBA
11/01/2011 - "Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion."
08/06/1999 - "We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. "
08/06/1999 - "Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q."
|6.||Bone Morphogenetic Protein 1IBA
|7.||Eukaryotic Initiation Factor-3IBA
|8.||Collagen Type II (Type II Collagen)IBA
09/01/1993 - "Involvement of chromosomes 5, 8, and 12 may be etiologically significant because of the gene localizations for the human cartilage link protein, Langer-Giedion syndrome (a rare syndrome characterized by multiple exostoses), and type II collagen (a major component of normal cartilage) respectively, to these three chromosomes. "
|9.||Complementary DNA (cDNA)IBA
10/01/1992 - "Using polymorphic DNA probes, we have been able to exclude the disease gene from close proximity to the 8q24.1 region where a dominant syndrome with multiple exostoses, the trichorhinophalangeal syndrome type II (TRP II, Langer-Giedion syndrome, MIM 15025), has been previously localised (pairwise linkage Z = -8.96 at theta = 0 with probe L48 at locus D8S51). "