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Page 1
[Genetic analysis of an infant with duplication of 22q12.1-q13.3].
Li R, Wang A, Wang J, Shi P, Ma Y, Kong X. Li R, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 May 10;37(5):555-558. doi: 10.3760/cma.j.issn.1003-9406.2020.05.015. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32335885 Chinese.
RESULTS: The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000) 3. His parents were found to be normal by both methods. CONCLUSION: The additional chromosomal material found on Yq, verified a …
RESULTS: The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001 …
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.
Two siblings, born in a collodion membrane, presented with fish like scales all over the body. 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 …
Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping revealed duplication of th …
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
Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. 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... …
Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication
22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder.
Huang X, Xie Y, Fang Q. Huang X, et al. Biomed Rep. 2017 Jul;7(1):51-55. doi: 10.3892/br.2017.923. Epub 2017 Jun 7. Biomed Rep. 2017. PMID: 28685060 Free PMC article.
Whole-genome single nucleotide polymorphism-microarray demonstrated an interstitial 575-kb duplication of chromosome 22p12.3 that involved the LARGE gene among the six family members, which included three healthy female carriers, the affected boy and two male fetuses. Fluo …
Whole-genome single nucleotide polymorphism-microarray demonstrated an interstitial 575-kb duplication of chromosome 22p12.3 that inv …
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. ...So far, duplications of 22q12 or 22q13 to 22qter have been described in 21 patients, of whom 13 h
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. ...Our r …
Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q …
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 …
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. These are rare high-penetrant mutations that increase risk not only of schizophrenia bu …
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, …
Long noncoding RNA RFPL1S-202 inhibits ovarian cancer progression by downregulating the IFN-β/STAT1 signaling.
Liu S, Chen X, Huang K, Xiong X, Shi Y, Wang X, Pan X, Cong Y, Sun Y, Ge L, Xu J, Jia X. Liu S, et al. Exp Cell Res. 2023 Jan 15;422(2):113438. doi: 10.1016/j.yexcr.2022.113438. Epub 2022 Nov 24. Exp Cell Res. 2023. PMID: 36435219
BACKGROUND: RFPL1S was first identified as one of the pseudogenes located in the intrachromosomal duplications within 22q12-13. Our previous study found that one of the predicted transcripts of lncRNA RFPL1S, ENST00000419368.1 (GRCh37/hg19), also named as RFPL1S-202 …
BACKGROUND: RFPL1S was first identified as one of the pseudogenes located in the intrachromosomal duplications within 22q12-13 …
23 results