Browsing Centre for Endocrinology by Author "Hall, C"
Now showing items 1-12 of 12
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181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions
Smith, CJ; Williams, JL; Hall, C; Caley, MP; O’Toole, EA; Prasad, R; Metherell, LA (Elsevier, 2022-12) -
Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children
Musa, SA; Abdullah, MA; Hassan, SS; Qamar, Y; Hall, C; Maitra, S; Maharaj, AV; Ramirez, LMM; Read, J; Smith, C (2022) -
The crosstalk between FGF21 and GH leads to weakened GH receptor signaling and IGF1 expression and is associated with growth failure in very preterm infants
Mistry, JN; Silvennoinen, S; Zaman, F; Savendahl, L; Mariniello, K; Hall, C; Howard, SR; Dunkel, L; Sankilampi, U; Guasti, L (2023) -
Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma
Williams, J; Smith, C; Hall, C; Khaled, Z; Maharaj, A; Kwong, R; Pittaway, J; Casas, J; Parvanta, L; Abdel-Aziz, T -
Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma
Williams, JL; Smith, C; Hall, C; Khaled, Z; Maharaj, A; Kwong, R; Pittaway, J; Casas, J; Parvanta, L; Abdel-Aziz, TE (2023) -
Genetic Aetiology of Primary Adrenal Insufficiency in Sudan
Smith, C; Abdullah, M; Hassan, S; Qamar, Y; Hall, C; Maitra, S; Maharaj, A; Mariela, MRL; Read, J; Chan, L -
Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation
Smith, CJ; Williams, JL; Hall, C; Casas, J; Caley, MP; O'Toole, EA; Prasad, R; Metherell, LA (2023) -
The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing
Maitra, S; Smith, C; Hall, C; Read, J; Maharaj, AV; Mariela, MRL; Qamar, Y; Prasad, R; Chan, LF; Metherell, LA -
A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES
Smith, C; Read, J; Hall, C; Maharaj, A; Marroquin, RL; Qamar, Y; Hughes, C; Clark, A; Prasad, R; Chan, L -
RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.
Chan, L; Smith, C; Read, J; Hall, C; Maharaj, A; Ramirez, LM; Qamar, Y; Hughes, C; Clark, A; Musa, S (The Endocrine Society, 2022-11-01) -
SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland
Williams, J; Smith, C; Maharaj, A; Kwong, R; Hall, C; Metherell, L; Prasad, R -
Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions
Smith, CJ; Williams, JL; Hall, C; Caley, MP; O'Toole, EA; Prasad, R; Metherell, LA (2022)