Výsledky vyhledávání

Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere

Autor: J D, Morrissette, L, Celle, N L, Owens, C L, Shields, E H, Zackai, N B, Spinner

Publikováno v: American journal of medical genetics. 99(1)

We present a patient with bilateral retinoblastoma and developmental delay who has an abnormal male karyotype containing 47 chromosomes, including an acentric derivative chromosome 13. We postulate that the derivative 13 occurred after a break at 13q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae992d8604416c95b5f5d13ea3970cec
https://pubmed.ncbi.nlm.nih.gov/11170089

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Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes

Autor: L, Celle, L, Lee, N, Rintoul, R C, Savani, W, Long, M T, Mennuti, I D, Krantz

Publikováno v: American journal of medical genetics. 94(2)

We describe monozygotic twins with partially discordant phenotypes who were found to have a duplication of chromosome region 4q28.3-qter. The duplicated region of chromosome 4 resulted from an unbalanced segregation of a balanced maternal (4;22)(q28.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::34c5b8a5cda4c08d8c467ccab4a9d121
https://pubmed.ncbi.nlm.nih.gov/10982969

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TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome

Autor: K W, Gripp, C A, Stolle, L, Celle, D M, McDonald-McGinn, L A, Whitaker, E H, Zackai

Publikováno v: American journal of medical genetics. 82(2)

The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::50220e0be8ef27dc42075f87561d9e60
https://pubmed.ncbi.nlm.nih.gov/9934984

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Compact solid-state neutral particle analyzer in current mode

Autor: A. L. Roquemore, William Heidbrink, Alessandro Bortolon, S. L. Celle, Y. B. Zhu

Publikováno v: Zhu, YB; Bortolon, A; Heidbrink, WW; Celle, SL; & Roquemore, AL. (2012). Compact solid-state neutral particle analyzer in current mode. Review of Scientific Instruments, 83(10). doi: 10.1063/1.4732070. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/5j20g3z6

Solid state neutral particle analyzer (ssNPA) arrays are operated in current mode on the DIII-D tokamak and the National Spherical Torus Experiment (NSTX). Compared with conventional pulse-counting NPAs, current-mode operation sacrifices energy resol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4f96729778e1de628478de0b079ed39
https://doi.org/10.1063/1.4732070

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Aree di servizio

Autor: DI GIULIO, Roberto, L. CELLE, C. TERPOLILLI, ZANASI GABRIELLI, E.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3709::d1a555709c657593f51aebdd6689079f
http://hdl.handle.net/11392/519382

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Alteration of Deformability of the Erythrocyte Membrane in Stored Blood

Autor: P. L. Celle

Publikováno v: Transfusion. 9:238-245

The deformability of stored erythrocytes decreases progressively with duration of storage. This change can be measured in terms of mean pressure required to deform the cells sufficiently to cause them to enter and traverse a micropipette analogue of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33b925669d05ebb1d694439d520b970c
https://doi.org/10.1111/j.1537-2995.1969.tb04930.x

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