Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 20.
Article
Achermann, JC;
Eugster, EA;
Shulman, DI;
(2011)
Ambiguous genitalia.
The Journal of Clinical Endocrinology & Metabolism
, 96
(3)
33A - 34A.
|
Ahmed, SF;
Achermann, JC;
Arl, W;
Balen, AH;
Conway, G;
Edwards, ZL;
Elford, S;
... Willis, D; + view all
(2011)
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.
Clinical Endocrinology
, 75
(1)
12 - 26.
10.1111/j.1365-2265.2011.04076.x.
|
Barrett, AN;
Zimmermann, BG;
Wang, D;
Holloway, A;
Chitty, LS;
(2011)
Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield.
PLOS ONE
, 6
(10)
, Article e25202. 10.1371/journal.pone.0025202.
|
Bridges, M;
Heron, EA;
O'Dushlaine, C;
Segurado, R;
International Schizophrenia, C;
Morris, D;
Corvin, A;
... Pinto, C; + view all
(2011)
Genetic classification of populations using supervised learning.
PLoS One
, 6
(5)
, Article e14802. 10.1371/journal.pone.0014802.
|
Davison, JE;
Davies, NP;
Wilson, M;
Sun, Y;
Chakrapani, A;
McKiernan, PJ;
Walter, JH;
... Peet, AC; + view all
(2011)
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.
Orphanet Journal of Rare Diseases
, 6
, Article 19. 10.1186/1750-1172-6-19.
|
Devine, MJ;
Kaganovich, A;
Ryten, M;
Mamais, A;
Trabzuni, D;
Manzoni, C;
McGoldrick, P;
... Lewis, PA; + view all
(2011)
Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
PLOS ONE
, 6
(7)
, Article e22489. 10.1371/journal.pone.0022489.
|
Ferraz-de-Souza, B;
Hudson-Davies, RE;
Lin, L;
Parnaik, R;
Hubank, M;
Dattani, MT;
Achermann, JC;
(2011)
Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal.
The Journal of Clinical Endocrinology & Metabolism
, 96
(4)
E663 - E668.
10.1210/jc.2010-2021.
|
Ferraz-de-Souza, B;
Lin, L;
Achermann, JC;
(2011)
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
[Review].
Molecular and Cellular Endocrinology
, 336
(1-2)
198 - 205.
10.1016/j.mce.2010.11.006.
|
Ferraz-de-Souza, B;
Lin, L;
Shah, S;
Jina, N;
Hubank, M;
Dattani, MT;
Achermann, JC;
(2011)
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.
The FASEB Journal
, 25
(4)
1166 - 1175.
10.1096/fj.10-170522.
|
Hughes, R;
Gilley, J;
Kristiansen, M;
Ham, J;
(2011)
The MEK-ERK pathway negatively regulates bim expression through the 3' UTR in sympathetic neurons.
BMC Neuroscience
, 12
, Article 69. 10.1186/1471-2202-12-69.
|
Kristiansen, M;
Menghi, F;
Hughes, R;
Hubank, M;
Ham, J;
(2011)
Global analysis of gene expression in NGF-deprived sympathetic neurons identifies molecular pathways associated with cell death.
BMC Genomics
, 12
, Article 551. 10.1186/1471-2164-12-551.
|
Manunta, MDI;
McAnulty, RJ;
Tagalakis, AD;
Bottoms, SE;
Campbell, F;
Hailes, HC;
Laurent, GJ;
... Hart, SL; + view all
(2011)
Nebulisation of Receptor-Targeted Nanocomplexes for Gene Delivery to the Airway Epithelium.
PLoS ONE
, 6
(10)
, Article e26768. 10.1371/journal.pone.0026768.
|
Manunta, MDI;
McAnulty, RJ;
Tagalakis, AD;
Bottoms, SE;
Campbell, F;
Hailes, HC;
Tabor, AB;
... Hart, SL; + view all
(2011)
Nebulisation of Receptor-Targeted Nanocomplexes for Gene Delivery to the Airway Epithelium.
PLOS ONE
, 6
(10)
, Article e26768. 10.1371/journal.pone.0026768.
|
Meng, JH;
Adkin, CF;
Xu, SW;
Muntoni, F;
Morgan, JE;
(2011)
Contribution of Human Muscle-Derived Cells to Skeletal Muscle Regeneration in Dystrophic Host Mice.
PLOS ONE
, 6
(3)
, Article e17454. 10.1371/journal.pone.0017454.
|
Owen, N;
Zhou, HY;
Malygin, AA;
Sangha, J;
Smith, LD;
Muntoni, F;
Eperon, IC;
(2011)
Design principles for bifunctional targeted oligonucleotide enhancers of splicing.
Nucleic Acids Research
, 39
(16)
7194- 7208.
10.1093/nar/gkr152.
|
Plagnol, V;
Nalls, MA;
Bras, JM;
Hernandez, DG;
Sharma, M;
Sheerin, UM;
Saad, M;
... WTCCC2; + view all
(2011)
A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease.
PLoS Genetics
, 7
(6)
, Article e1002142. 10.1371/journal.pgen.1002142.
|
Tomaselli, S;
Megiorni, F;
Lin, L;
Mazzilli, MC;
Gerrelli, D;
Majore, S;
Grammatico, P;
(2011)
Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments beta-Catenin Signaling.
PLOS ONE
, 6
(1)
, Article e16366. 10.1371/journal.pone.0016366.
|
Townsend, CL;
Peckham, CS;
Tookey, PA;
(2011)
Surveillance of congenital cytomegalovirus in the UK and Ireland.
ARCH DIS CHILD-FETAL
, 96
(6)
F398 - F403.
10.1136/adc.2010.199901.
|
Book chapter
El-Khairi, R;
Martinez-Aguayo, A;
Ferraz-de-Souza, B;
Lin, L;
Achermann, JC;
(2011)
Role of DAX-1 (NROB1) and Steroidogenic Factor-1 (NR5A1) in Human Adrenal Function.
In: Ghizzoni, L and Cappa, M and Chrousos, G and Loche, S and Maghnie, M, (eds.)
Pediatric Adrenal Diseases.
(38 - 46).
Karger: Basel, Switzerland.
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Thesis
Achermann, JC;
(2011)
SF-1 and DAX-1 in human disease.
Doctoral thesis , University of Cambridge (Special Regulations).
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