Výsledky vyhledávání

SLUG (SNAI2) overexpression in embryonic development

Autor: Pérez-Mancera, P. A., González-Herrero, I., Maclean, K., Turner, A. M., Yip, M. Y., Sánchez-Martín, M., García, J. L., Robledo, C., Flores, T., Gutiérrez-Adán, A., Pintado, B., Sánchez-García, I.

Publikováno v: Repositorio de Resultados de Investigación del INIA
INIA: Repositorio de Resultados de Investigación del INIA
Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria INIA

The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6758c0d42ee68aae2d1e1ac80375372e
http://hdl.handle.net/20.500.12792/5390

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Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3)

Autor: Clarke, R A, Singh, S, McKenzie, H, Kearsley, J H, Yip, M Y

Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion believed to result from faulty segmentation along the embryo's developing axis. KFS appears to be a heterogeneous disease often associated with craniofacial malformation. Her

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7a1028b22b47d456a3792f57f7dc544e
https://europepmc.org/articles/PMC1801422/

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Uniparental disomy 15 resulting from 'correction' of an initial trisomy 15

Autor: Purvis-Smith, S G, Saville, T, Manass, S, Yip, M Y, Lam-Po-Tang, P R, Duffy, B, Johnston, H, Leigh, D, McDonald, B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7cc024bb571e3cc1e668564acb276ceb
https://europepmc.org/articles/PMC1682578/

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Akademický článek

Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter.

Autor: Yip, M Y, MacKenzie, H, Kovacic, A, McIntosh, A

Publikováno v: Journal of Medical Genetics; Sep1996, Vol. 33 Issue 9, p789-792, 4p

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Akademický článek

Multiple abnormalities in a child with partial duplications of 10p and 13q from a 3:1 segregation of a maternal t(10;13) translocation.

Autor: Yip, M Y, Williams, J, Goddard, A, Campbell, P, Lambert, I, Smithells, R W

Publikováno v: Journal of Medical Genetics; Mar1990, Vol. 27 Issue 3, p188-191, 4p

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Akademický článek

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

Autor: Yip, M Y, Selikowitz, M, Don, N, Kovacic, A, Purvis-Smith, S, Lam-Po-Tang, P R

Publikováno v: Journal of Medical Genetics; Nov1987, Vol. 24 Issue 11, p709-712, 4p

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Akademický článek

Rapid detection of euchromatin by Alu-PRINS: use in clinical cytogenetics.

Autor: Callen, D.F., Yip, M.-Y., Eyre, H.J.

Publikováno v: Chromosome Research; Feb1997, Vol. 5 Issue 2, p81-85, 5p

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