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1990 1
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68 results

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Page 1
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
Socha M, Szoszkiewicz A, Simon D, Jamsheer A. Socha M, et al. J Appl Genet. 2023 Feb;64(1):125-134. doi: 10.1007/s13353-022-00743-7. Epub 2022 Dec 31. J Appl Genet. 2023. PMID: 36586055 Free PMC article. Review.
Partial 16p trisomy syndrome is a rare disorder typically characterized by psychomotor retardation, prenatal and postnatal growth deficiency, cleft palate, and facial dysmorphism, with some patients also presenting with heart defects and urogenital anomalies. Pure 16p13. …
Partial 16p trisomy syndrome is a rare disorder typically characterized by psychomotor retardation, prenatal and postnatal growth deficiency …
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Fontes MI, Santos AP, Molck MC, Simioni M, Nascimento DL, Andrade AK, Rosenberg C, Krepischi AC, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Fontes MI, et al. Am J Med Genet A. 2016 Mar;170(3):766-72. doi: 10.1002/ajmg.a.37494. Epub 2015 Dec 7. Am J Med Genet A. 2016. PMID: 26638882 Review.
This article reports a patient with a de novo 9.32 Mb duplication at 16p13.3 and a 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication
This article reports a patient with a de novo 9.32 Mb duplication at 16p13.3 and a 71 Kb deletion at 22q13.33. The pati …
Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.
Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L. Li Z, et al. Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12. Gene. 2013. PMID: 24035902 Review.
Genotype-phenotype analysis of at least 25 individuals with interstitial 16p13.3 duplications defines a recognizable syndrome associated with duplication of a critical Rubinstein-Taybi region encompassing only the CREBBP gene. ...In addition, growth de …
Genotype-phenotype analysis of at least 25 individuals with interstitial 16p13.3 duplications defines a recognizable sy …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of w …
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16 …
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
Demeer B, Andrieux J, Receveur A, Morin G, Petit F, Julia S, Plessis G, Martin-Coignard D, Delobel B, Firth HV, Thuresson AC, Lanco Dosen S, Sjörs K, Le Caignec C, Devriendt K, Mathieu-Dramard M. Demeer B, et al. Eur J Med Genet. 2013 Jan;56(1):26-31. doi: 10.1016/j.ejmg.2012.09.005. Epub 2012 Oct 11. Eur J Med Genet. 2013. PMID: 23063576
We here report the phenotypic and genotypic delineation of 9 patients carrying a submicroscopic 16p13.3 duplication, including the smallest 16p13.3 duplication reported so far. ...It also confirms that CREBBP is the critical gene involved …
We here report the phenotypic and genotypic delineation of 9 patients carrying a submicroscopic 16p13.3 duplication, in …
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.
Sun M, Zhang H, Li G, Wang X, Lu X, Sternenberger A, Guy C, Li W, Lee J, Zheng L, Li S. Sun M, et al. Mol Cytogenet. 2014 Nov 25;7(1):76. doi: 10.1186/s13039-014-0076-5. eCollection 2014. Mol Cytogenet. 2014. PMID: 25493098 Free PMC article.
To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q11.2 region and an 11.8 Mb gain in the 16p13.13-pter region. CONCLUSIONS: We suggest that the duplicated chromosome segmen …
To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain …
Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.
Marangi G, Leuzzi V, Orteschi D, Grimaldi ME, Lecce R, Neri G, Zollino M. Marangi G, et al. Am J Med Genet A. 2008 Sep 15;146A(18):2313-7. doi: 10.1002/ajmg.a.32460. Am J Med Genet A. 2008. PMID: 18688873
We report on a 16-year-old girl with a multiple congenital anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication of chromosome region 16p13.3 was detected by array-CGH. ...Clinical manifestations included distinctive facial appearance w …
We report on a 16-year-old girl with a multiple congenital anomalies/mental retardation condition, in which a 1.7 Mb tandem duplication
Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a beta-Thalassemia Heterozygous Child.
Liu S, Jiang H, Wu MY, Zhang YL, Li DZ. Liu S, et al. Pediatr Hematol Oncol. 2015;32(5):349-53. doi: 10.3109/08880018.2015.1040932. Epub 2015 Jun 18. Pediatr Hematol Oncol. 2015. PMID: 26086873
Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (CGH) analyses of the alpha gene cluster revealed an approximate 146-kb duplication at 16p13.3 including the complete alpha gene cluster. The duplicated
Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (CGH) analyses of the alpha gene cluster …
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.
Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L. Mattina T, et al. Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29. Eur J Med Genet. 2012. PMID: 23032921 Review.
We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array a …
We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies an …
68 results