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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. Curry CJ, et al. Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813913 Free PMC article.
Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. ...Autism spectrum disorders were seen in a third of duplication probands, most commonly in those with duplications of YWHAE and flanki …
Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. ...Autism …
Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
Blazejewski SM, Bennison SA, Smith TH, Toyo-Oka K. Blazejewski SM, et al. Front Genet. 2018 Mar 23;9:80. doi: 10.3389/fgene.2018.00080. eCollection 2018. Front Genet. 2018. PMID: 29628935 Free PMC article. Review.
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can r …
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, de …
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.
Bukowska-Olech E, Sowińska-Seidler A, Wierzba J, Jamsheer A. Bukowska-Olech E, et al. Orphanet J Rare Dis. 2022 Aug 26;17(1):325. doi: 10.1186/s13023-022-02480-w. Orphanet J Rare Dis. 2022. PMID: 36028842 Free PMC article.
The rearrangements mapped to the following chromosomal regions-arr[GRCh38] 17p13.3(960254-1291856)4 in F1.1 and arr[GRCh38] 17p13.3(1227482-1302716)3 in F2.1. The targeted quantitative PCR revealed that the 17p13.3 locus was also dupli
The rearrangements mapped to the following chromosomal regions-arr[GRCh38] 17p13.3(960254-1291856)4 in F1.1 and arr[GRCh38] …
Prenatal diagnosis of 17p13.1p13.3 duplication.
Kiiski K, Roovere T, Zordania R, von Koskull H, Horelli-Kuitunen N. Kiiski K, et al. Case Rep Med. 2012;2012:840538. doi: 10.1155/2012/840538. Epub 2012 Oct 17. Case Rep Med. 2012. PMID: 23118768 Free PMC article.
We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. ...This enables rapid prenatal diagnosis of the duplication fo …
We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been …
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
Shen Y, Si N, Liu Z, Liu F, Meng X, Zhang Y, Zhang X. Shen Y, et al. Orphanet J Rare Dis. 2018 Jul 3;13(1):106. doi: 10.1186/s13023-018-0838-y. Orphanet J Rare Dis. 2018. PMID: 29970136 Free PMC article.
SHFM with tibia or femur aplasia is called SHFM with long bone deficiency (SHFLD). 17p13.3 duplications containing BHLHA9 are associated with SHFLD. Cases with variable SHFLD phenotype and different 17p13.3 duplicated regions are reported …
SHFM with tibia or femur aplasia is called SHFM with long bone deficiency (SHFLD). 17p13.3 duplications containing BHLH …
Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.
Liang B, Yu D, Zhao W, Wang Y, Wu X, Chen L, Lin N, Huang H, Xu L. Liang B, et al. BMC Med Genomics. 2022 Dec 21;15(1):268. doi: 10.1186/s12920-022-01423-5. BMC Med Genomics. 2022. PMID: 36544138 Free PMC article.
Of them, two and six harbored copy number gains and losses involving 17p13.3, respectively. The size of the detected 17p13.3 CNVs ranged from 576 kb to 5.7 Mb. Case 1 was diagnosed with 17p13.3 duplication syndrome, and cases 4, 6, …
Of them, two and six harbored copy number gains and losses involving 17p13.3, respectively. The size of the detected 17p13
Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3epsilon).
Liu X, Bennison SA, Robinson L, Toyo-Oka K. Liu X, et al. Brain Sci. 2021 Dec 30;12(1):56. doi: 10.3390/brainsci12010056. Brain Sci. 2021. PMID: 35053800 Free PMC article. Review.
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller-Dieker syndrome (MDS) and 17p13.3 duplication syndrome. ...Although these three proteins are known to …
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorder …
A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
Vittas S, Bisba M, Christopoulou G, Apostolakopoulou L, Pons R, Constantoulakis P. Vittas S, et al. Genes (Basel). 2023 Jun 24;14(7):1333. doi: 10.3390/genes14071333. Genes (Basel). 2023. PMID: 37510238 Free PMC article.
Oligonucleotide and SNP array comparative genomic hybridization (a-CGH) analysis revealed a duplication of approximately 121 Kbp on chromosome 17p13.3, which includes YWHAE and CRK genes. ...The above findings lead us to propose that hearing loss is a manifes …
Oligonucleotide and SNP array comparative genomic hybridization (a-CGH) analysis revealed a duplication of approximately 121 Kbp on c …
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ. Stutterd CA, et al. Eur J Med Genet. 2020 Apr;63(4):103774. doi: 10.1016/j.ejmg.2019.103774. Epub 2019 Oct 1. Eur J Med Genet. 2020. PMID: 31585183 Review.
We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome region 17p13.3p13.2. To our knowledge, this is the first report of polymicrogyria associated with the 17p13.3 contiguous gene …
We present the case of a male infant with bilateral perisylvian polymicrogyria associated with a de novo duplication of chromosome re …
[17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].
Przybylska-Kruszewska A, Kutkowska-Kaźmierczak A, Krzywdzińska A, Smyk M, Nowakowska B, Gryglicka H, Obersztyn E, Hozyasz KK. Przybylska-Kruszewska A, et al. Pol Merkur Lekarski. 2016 Apr;40(238):255-9. Pol Merkur Lekarski. 2016. PMID: 27137828 Polish.
17p13.3 duplication is a rare and heterogeneous genetic syndrome. ...Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation....
17p13.3 duplication is a rare and heterogeneous genetic syndrome. ...Further cases with different variants of 17p13
71 results