Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

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

Year Number of Results
1950 1
1951 1
1956 1
1958 1
1961 1
1962 3
1963 8
1964 10
1965 12
1966 18
1967 26
1968 20
1969 32
1970 31
1971 28
1972 54
1973 39
1974 67
1975 141
1976 151
1977 184
1978 188
1979 297
1980 278
1981 325
1982 341
1983 424
1984 613
1985 730
1986 821
1987 914
1988 1074
1989 1391
1990 1605
1991 1740
1992 1497
1993 1198
1994 1265
1995 1423
1996 1436
1997 1503
1998 1458
1999 1532
2000 1485
2001 1533
2002 1387
2003 1375
2004 1393
2005 1537
2006 1513
2007 1558
2008 1604
2009 1501
2010 1671
2011 1739
2012 1739
2013 1716
2014 1673
2015 1578
2016 1526
2017 1420
2018 1345
2019 1342
2020 1337
2021 1284
2022 1175
2023 1089
2024 1043
2025 1034
2026 324

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

57,036 results

Results by year

Filters applied: . Clear all
Page 1
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M. Jacquin C, et al. Am J Med Genet A. 2023 Feb;191(2):445-458. doi: 10.1002/ajmg.a.63041. Epub 2022 Nov 11. Am J Med Genet A. 2023. PMID: 36369750 Free PMC article.
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome …
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5 …
[Clinical and genetic analysis of a child with chromosomal 13q32.1-q33.3 deletion].
Wang H, Huang C, Li L, Liu Y, Wang T, Zhang Y, Li H. Wang H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1213-1218. doi: 10.3760/cma.j.issn.1003-9406.2019.12.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813151 Chinese.
RESULTS: G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13)(q32). SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inhe …
RESULTS: G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46,XY,del(13 …
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.
Dell'Orso G, Passarella T, Cappato S, Cappelli E, Regis S, Maffei M, Balbi M, Ravera S, Di Martino D, Viaggi S, Davì S, Corsolini F, Giarratana MC, Arcuri L, Mariani E, Morini R, Massaccesi E, Guardo D, Calvillo M, Palmisani E, Coviello D, Fioredda F, Dufour C, Bocciardi R, Miano M. Dell'Orso G, et al. Int J Mol Sci. 2025 Jul 29;26(15):7330. doi: 10.3390/ijms26157330. Int J Mol Sci. 2025. PMID: 40806462 Free PMC article.
We described here a patient with inherited thrombocytopenia initially misdiagnosed as immune thrombocytopenic purpura. A chromosomal deletion involving the ANKRD26 gene was identified. Gene and protein expression analyses suggest an alternative pathogenic mechanism …
We described here a patient with inherited thrombocytopenia initially misdiagnosed as immune thrombocytopenic purpura. A chromosomal …
Retinoblastoma associated with chromosomal 13q14 deletion mosaicism.
Kivelä T, Tuppurainen K, Riikonen P, Vapalahti M. Kivelä T, et al. Ophthalmology. 2003 Oct;110(10):1983-8. doi: 10.1016/S0161-6420(03)00484-6. Ophthalmology. 2003. PMID: 14522775
CASE REPORT: A dysmorphic baby, who carried a chromosomal deletion involving 13q14 in 34% of peripheral blood lymphocytes, had neuroradiologic evidence of retinoblastoma at the age of 2 weeks. ...RESULTS: Meta-analysis revealed no difference between children with mo …
CASE REPORT: A dysmorphic baby, who carried a chromosomal deletion involving 13q14 in 34% of peripheral blood lymphocytes, had …
Chromosomal deletion, gene amplification, alternative processing, and autocrine growth factor production in the pathogenesis of human lung cancer.
Minna JD, Battey JF, Birrer M, Brooks BJ, Cuttitta F, DeGreve J, Gazdar AF, Johnson BE, Nau MM, Sausville EA, et al. Minna JD, et al. Princess Takamatsu Symp. 1986;17:109-22. Princess Takamatsu Symp. 1986. PMID: 3332004 Review.
Small cell lung cancer (also called "oat cell" lung cancer) has a deletion involving chromosome region 3p(14-23) that is confirmed by DNA restriction fragment length polymorphisms analysis (studies done in collaboration with Dr. ...
Small cell lung cancer (also called "oat cell" lung cancer) has a deletion involving chromosome region 3p(14-23) that is confi …
Chromosomal deletion and retinoblastoma.
Knudson AG Jr, Meadows AT, Nichols WW, Hill R. Knudson AG Jr, et al. N Engl J Med. 1976 Nov 11;295(20):1120-3. doi: 10.1056/NEJM197611112952007. N Engl J Med. 1976. PMID: 980006 No abstract available.
Chromosomal Duplication Syndromes: A Case Series.
Panigrahi I, Shariq M, Bamba C, Kaur R, Bhatt Y, Srivastava P. Panigrahi I, et al. Neurol India. 2024 Jan 1;72(1):124-128. doi: 10.4103/ni.ni_400_21. Epub 2024 Feb 29. Neurol India. 2024. PMID: 38443013 Free article.
Chromosomal deletion and duplication syndromes can lead to intellectual disability, autism, microcephaly, and poor growth. Usually manifestations of duplication syndromes are milder than that of the deletion syndromes. With the availability of tests for analy …
Chromosomal deletion and duplication syndromes can lead to intellectual disability, autism, microcephaly, and poor growth. Usu …
CRISPR-PCD and CRISPR-PCRep: Two novel technologies for simultaneous multiple segmental chromosomal deletion/replacement in Saccharomyces cerevisiae.
Easmin F, Sasano Y, Kimura S, Hassan N, Ekino K, Taguchi H, Harashima S. Easmin F, et al. J Biosci Bioeng. 2020 Feb;129(2):129-139. doi: 10.1016/j.jbiosc.2019.08.004. Epub 2019 Oct 1. J Biosci Bioeng. 2020. PMID: 31585858
Genome manipulation, especially the deletion or replacement of chromosomal regions, is a salient tool for the analysis of genome function. ...Here, we have developed two highly efficient and versatile genome engineering technologies, named clustered regularly inters …
Genome manipulation, especially the deletion or replacement of chromosomal regions, is a salient tool for the analysis of geno …
Chromosomal deletion complexes in mice by radiation of embryonic stem cells.
You Y, Bergstrom R, Klemm M, Lederman B, Nelson H, Ticknor C, Jaenisch R, Schimenti J. You Y, et al. Nat Genet. 1997 Mar;15(3):285-8. doi: 10.1038/ng0397-285. Nat Genet. 1997. PMID: 9054943
Chromosomal deletions ("deficiencies') are powerful tools in the genetic analysis of complex genomes. ...Spontaneous deletions in humans have facilitated the dissection of phenotypes in contiguous gene syndromes and led to the positional cloning of critical genes. In mice, …
Chromosomal deletions ("deficiencies') are powerful tools in the genetic analysis of complex genomes. ...Spontaneous deletions in hum …
57,036 results
You have reached the last available page of results. Please see the User Guide for more information.