Adrenal Dysfunction in Mitochondrial Diseases

por Corkery-Hayward, Madeleine, Metherell, Louise A.
Publicado 2023

Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies

por Wai Kwong, Ruth Ming, Maharaj, Avinaash Vickram, Metherell, Louise, Prasad, Rathi
Publicado 2021

Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations

por Metherell, Louise A, Guerra‐Assunção, José Afonso, Sternberg, Michael J, David, Alessia
Publicado 2016

Genetic Defects in the Growth Hormone–IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

por Savage, Martin O., Hwa, Vivian, David, Alessia, Rosenfeld, Ron G., Metherell, Louise A.
Publicado 2011

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

por Ali, Naseer, Maharaj, Avinaash Vickram, Buonocore, Federica, Achermann, John C., Metherell, Louise A.
Publicado 2022

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

por Maharaj, Avinaash, Theodorou, Demetria, Banerjee, Indraneel (Indi), Metherell, Louise A., Prasad, Rathi, Wallace, Dean
Publicado 2020

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

por Chung, Teng-Teng L L, Chan, Li F, Metherell, Louise A, Clark, Adrian J L
Publicado 2010

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

por Maharaj, Avinaash, Güran, Tülay, Buonocore, Federica, Achermann, John C, Metherell, Louise, Prasad, Rathi, Çetinkaya, Semra
Publicado 2022

Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

por Chan, Li F, Chung, Teng-Teng, Massoud, Ahmed F, Metherell, Louise A, Clark, Adrian J L
Publicado 2009

Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

por Chan, Li F., Campbell, Daniel C., Novoselova, Tatiana V., Clark, Adrian J. L., Metherell, Louise A.
Publicado 2015

In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP

por Smith, Chris, Maharaj, Avinaash Vickram, Qamar, Younus, Read, Jordan, Williams, Jack, Chan, Li, Marimuthu, Vidhya, Metherell, Louise
Publicado 2021

ACTH signalling and adrenal development: lessons from mouse models

por Novoselova, Tatiana V, King, Peter J, Guasti, Leonardo, Metherell, Louise A, Clark, Adrian J L, Chan, Li F
Publicado 2019

An Atypical Case of Familial Glucocorticoid Deficiency without Pigmentation Caused by Coexistent Homozygous Mutations in MC2R (T152K) and MC1R (R160W)

por Turan, Serap, Hughes, Claire, Atay, Zeynep, Guran, Tulay, Haliloglu, Belma, Clark, Adrian J. L., Bereket, Abdullah, Metherell, Louise A.
Publicado 2012

MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation

por Novoselova, Tatiana V., Hussain, Mashal, King, Peter J., Guasti, Leonardo, Metherell, Louise A., Charalambous, Marika, Clark, Adrian J. L., Chan, Li F.
Publicado 2018

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

por Kallali, Wafa, Gray, Ewan, Mehdi, Muhammad Zain, Lindsay, Robert, Metherell, Louise A, Buonocore, Federica, Suntharalingham, Jenifer P, Achermann, John C, Donaldson, Malcolm
Publicado 2020

SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes

por Smith, Chris, Jackson, Adam, Al-Salihi, Ahmed, Janecke, Andreas, Steichen, Elisabeth, Darby, Denise, Griffin, Liezel, Banka, Siddharth, Elsayed, Solaf, Chan, Li, Metherell, Louise
Publicado 2023

NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency

por Novoselova, Tatiana V., Rath, Shoshana R., Carpenter, Karen, Pachter, Nicholas, Dickinson, Jan E., Price, Glynis, Chan, Li F., Choong, Catherine S., Metherell, Louise A.
Publicado 2015

GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients

por Chatterjee, Sumana, Cottrell, Emily, Rose, Stephen J, Mushtaq, Talat, Maharaj, Avinaash V, Williams, Jack, Savage, Martin O, Metherell, Louise A, Storr, Helen L
Publicado 2020

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia

por Lin, Lin, Hindmarsh, Peter C, Metherell, Louise A, Alzyoud, Mahmoud, Al-Ali, Maryam, Brain, Caroline E, Clark, Adrian J L, Dattani, Mehul T, Achermann, John C
Publicado 2007

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

por Farooqi, Nadia, Metherell, Louise A., Schrauwen, Isabelle, Acharya, Anushree, Khan, Qayum, Nouel Saied, Liz M., Ali, Yasir, El-Serehy, Hamed A., Jalil, Fazal, Leal, Suzanne M.
Publicado 2021