PMC Links for Nucleotide (Select 6527111) - PMC

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Items: 4

Select item 47898131.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C Taylor, Malcolm F Howard, David Keays, Aman Singh Sohal, DDD collaboration, Susanne J Kühl, Usha Kini, Alisdair McNeill

J Med Genet. 2016 Mar; 53(3): 152–162. Published online 2015 Nov 5. doi: 10.1136/jmedgenet-2015-103393

PMCID:: PMC4789813

Abstract Article PDF–1.2M

Select item 43733682.

Fibrotic response in fibroblasts from congenital disorders of glycosylation

M Rita Lecca, Charlotte Maag, Eric G Berger, Thierry Hennet

J Cell Mol Med. 2011 Aug; 15(8): 1788–1796. Published online 2011 Jul 13. doi: 10.1111/j.1582-4934.2010.01187.x

PMCID:: PMC4373368

Abstract Article PDF–839K

Select item 27786563.

Progesterone regulation of implantation-related genes: new insights into the role of oestrogen

H. Dassen, C. Punyadeera, R. Kamps, J. Klomp, G. Dunselman, F. Dijcks, A. de Goeij, A. Ederveen, P. Groothuis

Cell Mol Life Sci. 2007 Apr; 64(7-8): 1009. Published online 2007 Apr 2. doi: 10.1007/s00018-007-6553-9

PMCID:: PMC2778656

Abstract Article PDF–775K

Select item 17709334.

Investigation of the molecular profile of basal cell carcinoma using whole genome microarrays

Lorraine O'Driscoll, Jason McMorrow, Padraig Doolan, Eadaoin McKiernan, Jai Prakash Mehta, Eoin Ryan, Patrick Gammell, Helena Joyce, Norma O'Donovan, Nicholas Walsh, Martin Clynes

Mol Cancer. 2006; 5: 74. Published online 2006 Dec 15. doi: 10.1186/1476-4598-5-74