Browse by UCL people
Group by: Type | Date
Number of items: 12.
Article
Casanova, MA;
Monteagudo-Sánchez, A;
Guerineau, LR;
Court, F;
Serrano, IG;
Martorell, L;
Zurriaga, CR;
... Hernando, JM; + view all
(2017)
Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted.
Human Mutation
, 38
(6)
pp. 615-620.
10.1002/humu.23213.
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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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Ishida, M;
(2016)
New developments in Silver-Russell syndrome and implications for clinical practice.
Epigenomics
, 8
(4)
pp. 563-580.
10.2217/epi-2015-0010.
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Ishida, M;
Cullup, T;
Boustred, C;
James, C;
Docker, J;
English, C;
GOSgene, .;
... Stanier, PM; + view all
(2018)
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical Genetics
, 93
(4)
pp. 870-879.
10.1111/cge.13189.
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Ishida, M;
Monk, D;
Duncan, AJ;
Abu-Amero, S;
Chong, J;
Ring, SM;
Pembrey, ME;
... Moore, GE; + view all
(2012)
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.
The American Journal of Human Genetics
, 90
(4)
715 - 719.
10.1016/j.ajhg.2012.02.021.
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Kinsler, VA;
Thomas, AC;
Ishida, M;
Bulstrode, NW;
Loughlin, S;
Hing, S;
Chalker, J;
... Moore, GE; + view all
(2013)
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Journal of Investigative Dermatology
, 133
(9)
pp. 2229-2236.
10.1038/jid.2013.70.
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Mangold, E;
Böhmer, AC;
Ishorst, N;
Hoebel, AK;
Gültepe, P;
Schuenke, H;
Klamt, J;
... Ludwig, KU; + view all
(2016)
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
American Journal of Human Genetics
, 98
(4)
pp. 755-762.
10.1016/j.ajhg.2016.02.013.
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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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Muggenthaler, MM;
Chowdhury, B;
Hasan, SN;
Cross, HE;
Mark, B;
Harlalka, GV;
Patton, MA;
... Chioza, BA; + view all
(2017)
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genetics
, 13
(1)
, Article e1006470. 10.1371/journal.pgen.1006470.
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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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Thomas, AC;
Williams, H;
Seto-Salvia, N;
Bacchelli, C;
Jenkins, D;
O'Sullivan, M;
Mengrelis, K;
... Stanier, PM; + view all
(2014)
Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome.
The American Journal of Human Genetics
, 95
(5)
pp. 611-621.
10.1016/j.ajhg.2014.10.007.
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Thesis
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Ishida, M.;
(2012)
The role of imprinted genes in human fetal growth.
Doctoral thesis , UCL (University College London).
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