Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 25.
A
Alston, CL;
Davison, JE;
Meloni, F;
van der Westhuizen, FH;
He, L;
Hornig-Do, H-T;
Peet, AC;
... Taylor, RW; + view all
(2012)
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Journal of Medical Genetics
, 49
(9)
569 -577.
10.1136/jmedgenet-2012-101146.
![]() |
![]() |
B
Bras, J;
Verloes, A;
Schneider, SA;
Mole, SE;
Guerreiro, RJ;
(2012)
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.
Human Molecular Genetics
, 21
(12)
2646 - 2650.
10.1093/hmg/dds089.
![]() |
![]() ![]() |
C
Charlesworth, G;
Plagnol, V;
Holmström, KM;
Bras, J;
Sheerin, UM;
Preza, E;
Rubio-Agusti, I;
... Wood, NW; + view all
(2012)
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.
The American Journal of Human Genetics
, 91
(6)
1041 - 1050.
10.1016/j.ajhg.2012.10.024.
![]() |
![]() |
D
Derks, EM;
Vorstman, JA;
Ripke, S;
Kahn, RS;
Schizophrenia Psychiatric Genomic, C;
Ophoff, RA;
(2012)
Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis.
PLoS One
, 7
, Article e37852. 10.1371/journal.pone.0037852.
![]() |
![]() |
Devine, MJ;
Kaganovich, A;
Ryten, M;
Mamais, A;
Trabzuni, D;
Manzoni, C;
McGoldrick, P;
... Lewis, PA; + view all
(2012)
Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
PLOS ONE
, 7
(1)
, Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5.
![]() |
![]() |
E
El-Khairi, R;
Parnaik, R;
Duncan, AJ;
Lin, L;
Gerrelli, D;
Dattani, MT;
Conway, GS;
(2012)
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency.
Molecular and Cellular Endocrinology
, 351
(2)
pp. 264-268.
10.1016/j.mce.2011.12.016.
![]() |
![]() |
H
Hernandez, DG;
Nalls, MA;
Moore, M;
Chong, S;
Dillman, A;
Trabzuni, D;
Gibbs, JR;
... Cookson, MR; + view all
(2012)
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Neurobiology of Disease
, 47
(1)
20 - 28.
10.1016/j.nbd.2012.03.020.
![]() |
![]() |
I
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.
![]() |
![]() |
K
Keller, MC;
Simonson, MA;
Ripke, S;
Neale, BM;
Gejman, PV;
Howrigan, DP;
Lee, SH;
... The Schizophrenia Psychiatric Genome-Wide Association Study Cons; + view all
(2012)
Runs of homozygosity implicate autozygosity as a schizophrenia risk factor.
PLoS Genetics
, 8
(4)
, Article e1002656. 10.1371/journal.pgen.1002656.
![]() |
![]() |
Kenny, GD;
Villegas-Llerena, C;
Tagalakis, AD;
Campbell, F;
Welser, K;
Botta, M;
Tabor, AB;
... Hart, SL; + view all
(2012)
Multifunctional receptor-targeted nanocomplexes for magnetic resonance imaging and transfection of tumours.
Biomaterials
, 33
(29)
7241 - 7250.
10.1016/j.biomaterials.2012.06.042.
![]() |
![]() |
Kinsler, VA;
(2012)
Studies of congenital melanocytic naevi.
Doctoral thesis , UCL (University College London).
|
L
Lescai, F;
Bonfiglio, S;
Bacchelli, C;
Chanudet, E;
Waters, A;
Sisodiya, SM;
Kasperavičiūtė, D;
... Stupka, E; + view all
(2012)
Characterisation and validation of insertions and deletions in 173 patient exomes.
PLoS One
, 7
(12)
, Article e51292. 10.1371/journal.pone.0051292.
![]() |
![]() |
N
Nahorski, MS;
Seabra, L;
Reiman, A;
Lu, X;
Maher, ER;
Straatman-Iwanowska, A;
Gissen, P;
... Teh, BT; + view all
(2012)
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered rhoa signalling, epithelial polarization and cytokinesis.
Human Molecular Genetics
, 21
(24)
5268 - 5279.
10.1093/hmg/dds378.
![]() |
![]() ![]() |
P
Padidela, R;
Bryan, SM;
Abu-Amero, S;
Hudson-Davies, RE;
Achermann, JC;
Moore, GE;
Hindmarsh, PC;
(2012)
The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight.
Clinical Endocrinology
, 76
(2)
236 - 240.
10.1111/j.1365-2265.2011.04207.x.
![]() |
![]() |
Pitceathly, RD;
Rahman, S;
Hanna, MG;
(2012)
Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice.
Neuromuscular Disorders
, 22
(7)
577 - 586.
10.1016/j.nmd.2012.03.009.
![]() |
![]() |
R
Rahman, S;
(2012)
Mitochondrial disease and epilepsy.
Dev Med Child Neurol
, 54
(5)
397 - 406.
10.1111/j.1469-8749.2011.04214.x.
![]() |
![]() |
Rix, SM;
(2012)
The role of IFT80 in the molecular pathogenesis of Short Rib Polydactyly syndromes.
Doctoral thesis , UCL (University of London).
|
S
Selman, L;
Henriksen, ML;
Brandt, J;
Palarasah, Y;
Waters, A;
Beales, PL;
Holmskov, U;
... Hansen, S; + view all
(2012)
An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1).
Journal of Immunological Methods
, 375
(1-2)
182 - 188.
10.1016/j.jim.2011.10.010.
![]() |
![]() |
Smith, H;
Banushi, B;
Bruce, CK;
Cangul, H;
Gogolina, E;
Straatman-Iwanowska, A;
Gissen, P;
... Watson, SP; + view all
(2012)
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Human Mutation
, 33
(12)
1656 - 1664.
10.1002/humu.22155.
![]() |
![]() |
Smith, KR;
Damiano, J;
Franceschetti, S;
Carpenter, S;
Canafoglia, L;
Morbin, M;
Rossi, G;
... Berkovic, SF; + view all
(2012)
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
The American Journal of Human Genetics
, 90
(6)
1102 - 1107.
10.1016/j.ajhg.2012.04.021.
![]() |
![]() |
T
Tantawy, S;
Lin, L;
Akkurt, I;
Borck, G;
Klingmueller, D;
Hauffa, BP;
Krude, H;
... Koehler, B; + view all
(2012)
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
European Journal of Endocrinology
, 167
(1)
pp. 125-130.
10.1530/EJE-11-0944.
![]() |
![]() |
Trabzuni, D;
Wray, S;
Vandrovcova, J;
Ramasamy, A;
Walker, R;
Smith, C;
Luk, C;
... Ryten, M; + view all
(2012)
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Human Molecular Genetics
, 21
(18)
4094 -4103.
10.1093/hmg/dds238.
![]() |
![]() ![]() ![]() |
Twigg, SR;
Lloyd, D;
Jenkins, D;
Elçioglu, NE;
Cooper, CD;
Al-Sannaa, N;
Annagür, A;
+ view all
(2012)
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
![]() |
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
W
White, HE;
Dent, CL;
Hall, VJ;
Crolla, JA;
Chitty, LS;
(2012)
Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.
PLOS One
, 7
(9)
, Article e45073. 10.1371/journal.pone.0045073.
![]() |
![]() |
Writer, MJ;
Kyrtatos, PG;
Bienemann, AS;
Pugh, JA;
Lowe, AS;
Villegas-Llerena, C;
Kenny, GD;
... Hart, SL; + view all
(2012)
Lipid peptide nanocomplexes for gene delivery and magnetic resonance imaging in the brain.
Journal of Controlled Release
, 162
(2)
340 - 348.
10.1016/j.jconrel.2012.07.002.
![]() |
![]() |