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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1994 1
1996 1
1997 1
1998 1
2000 2
2002 2
2003 2
2004 1
2007 1
2008 2
2009 1
2011 1
2023 1
2024 0

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17 results

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Page 1
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N. Ishihara N, et al. J Med Genet. 2004 May;41(5):387-93. doi: 10.1136/jmg.2003.016154. J Med Genet. 2004. PMID: 15121779 Free PMC article. No abstract available.
"Liu-Liang-Chung" syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation.
Liu WL, Li F, Chen W, Liu L, Cheng HJ, He ZX, Ai R. Liu WL, et al. BMC Pediatr. 2023 Sep 21;23(1):480. doi: 10.1186/s12887-023-04314-5. BMC Pediatr. 2023. PMID: 37735378 Free PMC article.
CASE PRESENTATION: We report a novel case with the syndrome with a novel de novo 22.16 Mb duplication at 2q21.2-q24.1. The syndrome is characterized by multiple anomalies including the same typical craniofacial phenotype that is entirely different from Mowat-Wilson syndrom …
CASE PRESENTATION: We report a novel case with the syndrome with a novel de novo 22.16 Mb duplication at 2q21.2-q24.1. The syndrome i …
Analysis of chromosomal aberrations in patients with mental retardation using the array-CGH technique: a single Czech centre experience.
Zrnová E, Vranová V, Slámová I, Gaillyová R, Kuglík P. Zrnová E, et al. Folia Biol (Praha). 2011;57(5):206-15. Folia Biol (Praha). 2011. PMID: 22123463 Free article.
Six aberrations appeared to be inherited from a parental carrier: del(1)(p36.33) joined with dup(12)(q24.32), del(21)(q22.2q22.3) joined with dup(11)(q24.2q25), del(X)(q22.3) and del(1)(q21.1). In two cases, parents were not available for testing: del(17)(q11 …
Six aberrations appeared to be inherited from a parental carrier: del(1)(p36.33) joined with dup(12)(q24.32), del(21)(q22.2q22 …
Partial deletion of chromosome 2 in non-Hodgkin lymphoma.
Berger R, Le Coniat M, Derré J, Vecchione D. Berger R, et al. Cancer Genet Cytogenet. 1991 May;53(1):113-7. doi: 10.1016/0165-4608(91)90122-b. Cancer Genet Cytogenet. 1991. PMID: 2036632
Three had deletions of bands 2p14-p22 and three others had a deletion of bands 2q22-q24 in common. The deletions were associated with other abnormalities in each case and were not associated with a particular subtype of NHL. ...
Three had deletions of bands 2p14-p22 and three others had a deletion of bands 2q22-q24 in common. The deletions were associat …
The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effects between loci on chromosomes 2q and 6q.
Abou Jamra R, Fuerst R, Kaneva R, Orozco Diaz G, Rivas F, Mayoral F, Gay E, Sans S, Gonzalez MJ, Gil S, Cabaleiro F, Del Rio F, Perez F, Haro J, Auburger G, Milanova V, Kostov C, Chorbov V, Stoyanova V, Nikolova-Hill A, Onchev G, Kremensky I, Jablensky A, Schulze TG, Propping P, Rietschel M, Nothen MM, Cichon S, Wienker TF, Schumacher J. Abou Jamra R, et al. Am J Hum Genet. 2007 Nov;81(5):974-86. doi: 10.1086/521690. Epub 2007 Sep 17. Am J Hum Genet. 2007. PMID: 17924339 Free PMC article.
Our results provide the strongest interaction evidence between BPAD genes on chromosomes 2q22-q24 and 6q23-q24, which was observed symmetrically in both directions (nonparametric LOD [NPL] scores of 7.55 on 2q and 7.63 on 6q; P<.0001 and P=.0001, respectiv …
Our results provide the strongest interaction evidence between BPAD genes on chromosomes 2q22-q24 and 6q23-q24, which w …
16q loss of heterozygosity and microsatellite instability in Wilms' tumor.
Mason JE, Goodfellow PJ, Grundy PE, Skinner MA. Mason JE, et al. J Pediatr Surg. 2000 Jun;35(6):891-6; discussion 896-7. doi: 10.1053/jpsu.2000.6911. J Pediatr Surg. 2000. PMID: 10873032
CONCLUSIONS: The smallest consensus region of deletion in our analysis of Wilms' tumor 16q LOH measures 2.4 megabases at 16q23.2-q24.2. Additionally, MSI was present in a subset of tumor specimens suggesting that defects in DNA mismatch repair may contribute to the pathoge …
CONCLUSIONS: The smallest consensus region of deletion in our analysis of Wilms' tumor 16q LOH measures 2.4 megabases at 16q23.2-q24. …
Cloning, expression and subcellular localization of the human homolog of p40MO15 catalytic subunit of cdk-activating kinase.
Darbon JM, Devault A, Taviaux S, Fesquet D, Martinez AM, Galas S, Cavadore JC, Dorée M, Blanchard JM. Darbon JM, et al. Oncogene. 1994 Nov;9(11):3127-38. Oncogene. 1994. PMID: 7936635
Fluorescence in situ hybridization on human lymphocyte metaphases showed two distinct chromosomal locations of human MO15 gene at 5q12-q13 and 2q22-q24. By using gene tagging and mammalian cell transfection, we demonstrate that the KRKR motif located at the carboxy …
Fluorescence in situ hybridization on human lymphocyte metaphases showed two distinct chromosomal locations of human MO15 gene at 5q12-q13 a …
Identification of chromosomal aberrations associated with disease progression and a novel 3q13.31 deletion involving LSAMP gene in osteosarcoma.
Yen CC, Chen WM, Chen TH, Chen WY, Chen PC, Chiou HJ, Hung GY, Wu HT, Wei CJ, Shiau CY, Wu YC, Chao TC, Tzeng CH, Chen PM, Lin CH, Chen YJ, Fletcher JA. Yen CC, et al. Int J Oncol. 2009 Oct;35(4):775-88. doi: 10.3892/ijo_00000390. Int J Oncol. 2009. PMID: 19724913
These included deletion of 6q14.1, 6q16.2-q22.31, and 8p23.2-p12, amplification of 8q21.12, 8q22.3-q24.3 and 17p12, and loss of heterozygosity (LOH) at 2q24.3-q31.2, 5q11.2, 6p21.31-p21.1, 6q14.1-q16.2, 8p22-p12, 9q22.1, 10q21.1-q22.1, 10q23.31-q24.1, 12q15-q21.1 an …
These included deletion of 6q14.1, 6q16.2-q22.31, and 8p23.2-p12, amplification of 8q21.12, 8q22.3-q24.3 and 17p12, and loss of heter …
17 results