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Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
Gupta A, Sharma Y, Deo K, Vellarikkal S, Jayarajan R, Dixit V, Verma A, Scaria V, Sivasubbu S. Gupta A, et al. F1000Res. 2015 Jul 31;4:446. doi: 10.12688/f1000research.6779.1. eCollection 2015. F1000Res. 2015. PMID: 26594337 Free PMC article.
Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing revealed a homozygous p.Gly218Ser variation in TGM1; a variation reported earlier in an isolated Finnish population in association with autosomal …
Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing reveal …
Recurrent Genomic Alterations in Soft Tissue Perineuriomas.
Carter JM, Wu Y, Blessing MM, Folpe AL, Thorland EC, Spinner RJ, Jentoft ME, Wang C, Baheti S, Niu Z, Mauermann ML, Klein CJ. Carter JM, et al. Am J Surg Pathol. 2018 Dec;42(12):1708-1714. doi: 10.1097/PAS.0000000000001169. Am J Surg Pathol. 2018. PMID: 30303818
OncoScan SNP array analysis was performed on 10 cases and showed high concordance with the whole exome data, validating the large-scale deletions, duplications, and chr7 chromothripsis findings. In soft tissue perineuriomas, recurrent 22q12 deletions (with NF2) and …
OncoScan SNP array analysis was performed on 10 cases and showed high concordance with the whole exome data, validating the large-scale dele …
Partial trisomy 22q12----qter in prenatal diagnosis.
Tolkendorf E, Mehner G, Prager B. Tolkendorf E, et al. Prenat Diagn. 1991 May;11(5):339-42. doi: 10.1002/pd.1970110511. Prenat Diagn. 1991. PMID: 1896421
The fetus thus has a rare familial duplication 22q12----qter. Eight live-born and severely malformed infants with this duplication have been reported in the literature....
The fetus thus has a rare familial duplication 22q12----qter. Eight live-born and severely malformed infants with this dupl
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.
Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM. Feenstra I, et al. Eur J Med Genet. 2006 Sep-Oct;49(5):384-95. doi: 10.1016/j.ejmg.2006.01.005. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16503209 Review.
Duplications of the proximal segment of chromosome 22q are not uncommon, like Cat-eye syndrome and duplications due to familial (11;22) translocations. However, duplications of the distal long arm of chromosome 22 (22qter) seem to be exceedingly rare. So far,
Duplications of the proximal segment of chromosome 22q are not uncommon, like Cat-eye syndrome and duplications due to familia
Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.
Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna AL. Gentile M, et al. Am J Med Genet A. 2004 Jun 1;127A(2):186-90. doi: 10.1002/ajmg.a.20672. Am J Med Genet A. 2004. PMID: 15108208
Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. ...Final …
Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q …
Copy number variation and schizophrenia.
St Clair D. St Clair D. Schizophr Bull. 2009 Jan;35(1):9-12. doi: 10.1093/schbul/sbn147. Epub 2008 Nov 5. Schizophr Bull. 2009. PMID: 18990708 Free PMC article.
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. ...In some cases, the same phenotype can occur irrespective of whether the copy number …
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, …
Ovarian Hemangiomas Do Not Harbor EWSR1 Rearrangements: Clinicopathologic Characterization of 10 Cases.
Schoolmeester JK, Greipp PT, Keeney GL, Soslow RA. Schoolmeester JK, et al. Int J Gynecol Pathol. 2015 Sep;34(5):437-44. doi: 10.1097/PGP.0000000000000171. Int J Gynecol Pathol. 2015. PMID: 25851709
All cases were negative for EWSR1 rearrangement; however, 2 cases demonstrated additional intact copies of EWSR1 indicating aneusomy 22 or a structural abnormality of chromosome 22 resulting in apparent duplication of the EWSR1 gene region (at 22q12). ...
All cases were negative for EWSR1 rearrangement; however, 2 cases demonstrated additional intact copies of EWSR1 indicating aneusomy 22 or a …
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.
Sestini R, Putignano AL, Ammannati F, Papi L. Sestini R, et al. Genet Test. 2005 Spring;9(1):14-9. doi: 10.1089/gte.2005.9.14. Genet Test. 2005. PMID: 15857181
Point mutations that inactivate the NF2 tumor suppressor gene, located in 22q12, have been found in 45-85% of NF2 patients; in addition, large genomic deletions can be found. ...In conclusion, the method we developed could easily be applied in detecting NF2 deletions and …
Point mutations that inactivate the NF2 tumor suppressor gene, located in 22q12, have been found in 45-85% of NF2 patients; in additi …
Molecular and biochemical characterization of a novel oxysterol-binding protein (OSBP2) highly expressed in retina.
Moreira EF, Jaworski C, Li A, Rodriguez IR. Moreira EF, et al. J Biol Chem. 2001 May 25;276(21):18570-8. doi: 10.1074/jbc.M011259200. Epub 2001 Jan 26. J Biol Chem. 2001. PMID: 11278871 Free article.
Both OSBP genes contain 14 exons and have similar exon sizes and splice sites suggesting they may have arisen from a gene duplication event. OSBP1 is located in chromosome 11q12.1, and OSBP2 is located in 22q12. At the protein level they share 63% overall similarity …
Both OSBP genes contain 14 exons and have similar exon sizes and splice sites suggesting they may have arisen from a gene duplication
Novel chromosomal translocation (17;22)(q12;q12) in a case of myelodisplastic syndrome characterized with signs of hemolytic anemia at presentation.
Antic D, Impera L, Fekete MD, Djordjevic V, Storlazzi CT, Elezovic I. Antic D, et al. Gene. 2012 Feb 1;493(1):161-4. doi: 10.1016/j.gene.2011.11.002. Epub 2011 Nov 12. Gene. 2012. PMID: 22138479
Following Giemsa-banding karyotyping, fluorescent in situ hybridization analyses, by using chromosome-specific probes, displayed the breakpoint regions at chromosomes 17 and 22, within which intra and inter-chromosomal segmental duplications (SD) are present. ...
Following Giemsa-banding karyotyping, fluorescent in situ hybridization analyses, by using chromosome-specific probes, displayed the breakpo …
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