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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 1195
1994 1265
1995 1423
1996 1436
1997 1503
1998 1458
1999 1533
2000 1485
2001 1533
2002 1387
2003 1375
2004 1393
2005 1536
2006 1513
2007 1558
2008 1604
2009 1501
2010 1671
2011 1739
2012 1739
2013 1716
2014 1673
2015 1579
2016 1526
2017 1419
2018 1346
2019 1341
2020 1338
2021 1284
2022 1169
2023 1084
2024 1041
2025 506

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56,268 results

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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 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.
MACHETE identifies interferon-encompassing chromosome 9p21.3 deletions as mediators of immune evasion and metastasis.
Barriga FM, Tsanov KM, Ho YJ, Sohail N, Zhang A, Baslan T, Wuest AN, Del Priore I, Meškauskaitė B, Livshits G, Alonso-Curbelo D, Simon J, Chaves-Perez A, Bar-Sagi D, Iacobuzio-Donahue CA, Notta F, Chaligne R, Sharma R, Pe'er D, Lowe SW. Barriga FM, et al. Nat Cancer. 2022 Nov;3(11):1367-1385. doi: 10.1038/s43018-022-00443-5. Epub 2022 Nov 7. Nat Cancer. 2022. PMID: 36344707 Free PMC article.
Half of 9p21.3 deletions, however, also encompass a type I interferon (IFN) gene cluster; the consequences of this co-deletion remain unexplored. To functionally dissect 9p21.3 and other large genomic deletions, we developed a flexible deletion engineering strategy, …
Half of 9p21.3 deletions, however, also encompass a type I interferon (IFN) gene cluster; the consequences of this co-deletion remain …
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 …
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 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 …
Y chromosomal deletion pattern in Koreans inhabiting Jeju Island.
Lee JH, Jin HX, Cho S, Kim HN, Seo HJ, Shin KJ, Shin DH, Lee SD. Lee JH, et al. Anthropol Anz. 2017 Sep 1;74(3):177-182. doi: 10.1127/anthranz/2017/0669. Epub 2017 May 30. Anthropol Anz. 2017. PMID: 28555242
Mutations occur in Y chromosome genes similar to autosomal genes. However, unlike autosomal genes, Y chromosome genes do not undergo recombination, which produce distinctive characteristics and distribution patterns in different geographic regions. ...Furthermore, p …
Mutations occur in Y chromosome genes similar to autosomal genes. However, unlike autosomal genes, Y chromosome genes do not u …
Chromosomal microdeletions: dissecting del22q11 syndrome.
Lindsay EA. Lindsay EA. Nat Rev Genet. 2001 Nov;2(11):858-68. doi: 10.1038/35098574. Nat Rev Genet. 2001. PMID: 11715041 Review.
Identifying the genes that underlie the pathogenesis of chromosome deletion and duplication syndromes is a challenge because the affected chromosomal segment can contain many genes. ...These mouse models have provided new insights into the pathogenesis of del …
Identifying the genes that underlie the pathogenesis of chromosome deletion and duplication syndromes is a challenge because t …
56,268 results
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