Browse by UCL people
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Number of items: 10.
Article
Bryant, D;
Liu, Y;
Datta, S;
Hariri, H;
Seda, M;
Anderson, G;
Peskett, E;
... Stanier, PM; + view all
(2018)
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Human Molecular Genetics
, 27
(11)
pp. 1927-1940.
10.1093/hmg/ddy101.
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Bryant, D;
Seda, M;
Peskett, E;
Maurer, C;
Pomeranz, G;
Ghosh, M;
Hawkins, TA;
... Stanier, P; + view all
(2020)
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Scientific Reports
, 10
(1)
, Article 13763. 10.1038/s41598-020-70797-2.
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Demetriou, C;
Abu-Amero, S;
Thomas, AC;
Ishida, M;
Aggarwal, R;
Al-Olabi, L;
Leon, LJ;
... Moore, GE; + view all
(2014)
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight.
PLoS One
, 9
(1)
, Article e85454. 10.1371/journal.pone.0085454.
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Demetriou, C;
Chanudet, E;
GOSgene, .;
Joseph, A;
Topf, M;
Thomas, AC;
Bitner-Glindzicz, M;
... Moore, GE; + view all
(2019)
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.
Human Molecular Genetics
, 28
(20)
pp. 3466-3474.
10.1093/hmg/ddz203.
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Leon, LJ;
Solanky, N;
Stalman, SE;
Demetriou, C;
Abu-Amero, S;
Stanier, P;
Regan, L;
(2016)
A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank.
Placenta
, 46
pp. 31-37.
10.1016/j.placenta.2016.08.085.
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Moore, GE;
Ishida, M;
Demetriou, C;
Al-Olabi, L;
Leon, LJ;
Thomas, AC;
Abu-Amero, S;
... Stanier, P; + view all
(2015)
The role and interaction of imprinted genes in human fetal growth.
Philos Trans R Soc Lond B Biol Sci
, 370
(1663)
, Article 20140074 . 10.1098/rstb.2014.0074.
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Seda, M;
Peskett, E;
Demetriou, C;
Bryant, D;
Moore, G;
Stanier, P;
Jenkins, D;
(2019)
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.
Child Health Open Research
, 8
, Article 273. 10.12688/f1000research.17314.1.
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Seselgyte, R;
Bryant, D;
Demetriou, C;
Ishida, M;
Peskett, E;
Moreno, N;
Morrogh, D;
... Stanier, P; + view all
(2019)
Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.
Journal of Dental Research
, 98
(6)
pp. 659-665.
10.1177/0022034519837245.
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Solanky, N;
Ishida, M;
Aléman-Charlet, C;
Abu-Amero, S;
Alders, M;
Alvizi, L;
Baird, W;
... Hennekam, RC; + view all
(2018)
Genetic Analyses in Small for Gestational Age Newborns.
Journal of Clinical Endocrinology and Metabolism
, 103
(3)
pp. 917-925.
10.1210/jc.2017-01843.
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Suntharalingham, JP;
Ishida, M;
Buonocore, F;
del Valle, I;
Solanky, N;
Demetriou, C;
Regan, L;
... Achermann, JC; + view all
(2019)
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
F1000Research
, 8
, Article 90. 10.12688/f1000research.15016.1.
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