Molecular Basis for Expression of Common and Rare Fragile Sites

Autor: TAINE, Laurence, ROCCA-SERRA, Philippe, EL MONEIM, Azza Abd, VERDIER, Nathalie, MORADKHANI, Kamran, SAURA, Robert, GORRY, Philippe, LONGY, Michel, BONNET, Francoise, ZLOTORYNSKI, E., RAHAT, A., SKAUG, J., BEN-PORAT, N., OZERI, E., HERSHBERG, R., LEVI, A., SCHERER, S., MARGALIT, H., KEREM, B.

Publikováno v: Molecular and Cellular Biology
Molecular and Cellular Biology, American Society for Microbiology, 2003, 23 (20), pp.7143-7151. ⟨10.1128/MCB.23.20.7143-7151.2003⟩

Fragile sites are specific loci that form gaps, constrictions, and breaks on chromosomes exposed to partial replication stress and are rearranged in tumors. Fragile sites are classified as rare or common, depending on their induction and frequency wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a30ea80a3585174aa782731baea0cbf
http://hdl.handle.net/20.500.12278/614

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.

Autor: Vu PY; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme, Bordeaux, France., Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, Taine L

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Nov; Vol. 158A (11), pp. 2849-56. Date of Electronic Publication: 2012 Oct 03.