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

Year Number of Results
2002 1
2005 1
2006 1
2010 1
2011 1
2012 3
2013 5
2014 2
2017 1
2018 1
2019 1
2020 1
2023 1
2024 0

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PubMed for id: 1616382

16 results

Results by year

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Page 1
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M. Pezzani L, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1064. doi: 10.1002/mgg3.1064. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943948 Free PMC article.
A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax.
De la Torre-García O, Mar-Aldama R, Salgado-Sangri R, Diaz-Gomez N, Bonilla-Arcaute L, Diaz-Ponce-Medrano J, Guevara-Yañez R, Córdova EJ, Monge-Cazares T, Orozco L, Martínez-Hernández A. De la Torre-García O, et al. Eur J Med Genet. 2019 Mar;62(3):195-197. doi: 10.1016/j.ejmg.2018.07.013. Epub 2018 Jul 17. Eur J Med Genet. 2019. PMID: 30010053
Age-related decline in BubR1 impairs adult hippocampal neurogenesis.
Yang Z, Jun H, Choi CI, Yoo KH, Cho CH, Hussaini SMQ, Simmons AJ, Kim S, van Deursen JM, Baker DJ, Jang MH. Yang Z, et al. Aging Cell. 2017 Jun;16(3):598-601. doi: 10.1111/acel.12594. Epub 2017 Apr 6. Aging Cell. 2017. PMID: 28383136 Free PMC article.
Mitotic stability of small supernumerary marker chromosomes: a study based on 93 immortalized cell lines.
Spittel H, Kubek F, Kreskowski K, Ziegler M, Klein E, Hamid AB, Kosyakova N, Radhakrishnan G, Junge A, Kozlowski P, Schulze B, Martin T, Huhle D, Mehnert K, Rodríguez L, Ergun MA, Sarri C, Militaru M, Stipoljev F, Tittelbach H, Vasheghani F, de Bello Cioffi M, Hussein SS, Fan X, Volleth M, Liehr T. Spittel H, et al. Cytogenet Genome Res. 2014;142(3):151-60. doi: 10.1159/000360776. Epub 2014 Apr 1. Cytogenet Genome Res. 2014. PMID: 24714101 Free article.
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS. Schick UM, et al. PLoS One. 2013;8(3):e59823. doi: 10.1371/journal.pone.0059823. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533652 Free PMC article.
[Azoospermia and 45,X/46,XY chromosomal mosaicism: a case report].
Le Chatton M, Zaccabri A, Agopiantz M, Leheup B, Weryha G, Foliguet B. Le Chatton M, et al. Gynecol Obstet Fertil. 2013 Mar;41(3):203-6. doi: 10.1016/j.gyobfe.2013.01.007. Epub 2013 Mar 14. Gynecol Obstet Fertil. 2013. PMID: 23498728 French.
16 results