Browse by UCL people
Group by: Type | Date
Number of items: 15.
Article
Akin, L;
Rizzoti, K;
Gregory, LC;
Corredor, B;
Le Quesne Stabej, P;
Williams, H;
Buonocore, F;
... Dattani, MT; + view all
(2022)
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genetics in Medicine
, 24
(2)
pp. 384-397.
10.1016/j.gim.2021.09.019.
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Alatzoglou, KS;
Gregory, LC;
Dattani, M;
(2020)
Development of the Pituitary Gland.
Comprehensive Physiology
, 10
(2)
pp. 389-413.
10.1002/cphy.c150043.
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Gaston-Massuet, C;
McCabe, MJ;
Scagliotti, V;
Young, RM;
Carreno, G;
Gregory, LC;
Jayakody, SA;
... Martinez-Barbera, JP; + view all
(2016)
Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Proceedings of the National Academy of Sciences of the U S A
10.1073/pnas.1503346113.
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Gregory, LC;
Ferreira, CB;
Young-Baird, SK;
Williams, HJ;
Harakalova, M;
van Haaften, G;
Rahman, SA;
... Dattani, MT; + view all
(2019)
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
EBioMedicine
, 42
pp. 470-480.
10.1016/j.ebiom.2019.03.013.
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Gregory, LC;
Krywawych, S;
Rahman, S;
Lagos, Carlos F;
Eaton, S;
Dattani, MT;
(2025)
A complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN).
Metabolism
, 168
, Article 156256. 10.1016/j.metabol.2025.156256.
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Gregory, Louise C;
Cionna, Cecilia;
Cerbone, Manuela;
GOSgene;
Dattani, Mehul T;
(2023)
Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.
Genetics in Medicine
, 25
(9)
, Article 100881. 10.1016/j.gim.2023.100881.
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Gregory, LC;
Alatzoglou, KS;
McCabe, MJ;
Hindmarsh, PC;
Saldanha, JW;
Romano, N;
Le Tissier, P;
(2016)
Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
Journal of Clinical Endocrinology and Metabolism
, 101
(10)
pp. 3608-3615.
10.1210/jc.2016-2254.
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Gregory, LC;
Dattani, MT;
(2020)
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Journal of Clinical Endocrinology & Metabolism
, 105
(6)
e2103-e2120.
10.1210/clinem/dgz184.
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Gregory, LC;
Gergics, P;
Nakaguma, M;
Bando, H;
Patti, G;
McCabe, MJ;
Fang, Q;
... Dattani, MT; + view all
(2021)
The phenotypic spectrum associated with OTX2 mutations in humans.
European Journal of Endocrinology
, 185
(1)
pp. 121-135.
10.1530/EJE-20-1453.
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Gregory, LC;
Shah, P;
Sanner, JRF;
Arancibia, M;
Hurst, J;
Jones, WD;
Spoudeas, H;
... Dattani, MT; + view all
(2019)
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
The Journal of Clinical Endocrinology & Metabolism
, 104
(12)
pp. 5737-5750.
10.1210/jc.2019-00631.
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Gualtieri, A;
Kyprianou, N;
Gregory, LC;
Vignola, ML;
Nicholson, JG;
Tan, R;
Inoue, S-I;
... Gaston-Massuet, C; + view all
(2021)
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Nature Communications
, 12
, Article 2028. 10.1038/s41467-021-21712-4.
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Hietamäki, J;
Gregory, LC;
Ayoub, S;
Iivonen, A-P;
Vaaralahti, K;
Liu, X;
Brandstack, N;
... Raivio, T; + view all
(2020)
Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism.
The Journal of Clinical Endocrinology & Metabolism
10.1210/clinem/dgaa078.
(In press).
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McCabe, MJ;
Hu, Y;
Gregory, LC;
Gaston-Massuet, C;
Alatzoglou, KS;
Saldanha, JW;
Gualtieri, A;
... Dattani, MT; + view all
(2015)
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
Molecular and Cellular Endocrinology
, 417
pp. 63-72.
10.1016/j.mce.2015.09.010.
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Whittaker, Danielle E;
Oleari, Roberto;
Gregory, Louise C;
Le Quesne-Stabej, Polona;
Williams, Hywel J;
Torpiano, John G;
Formosa, Nancy;
... Dattani, Mehul T; + view all
(2021)
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Journal of Clinical Investigation
, 131
(24)
, Article e141587. 10.1172/JCI141587.
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Thesis
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Gregory, LC;
(2017)
Investigation of new candidate genes in a cohort of patients with familial congenital hypopituitarism and associated disorders.
Doctoral thesis , UCL (University College London).
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