DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Por Suntharalingham, Jenifer P., Buonocore, Federica, Duncan, Andrew J., Achermann, John C.
Publicado no Best Pract Res Clin Endocrinol Metab (2015)

Can cardiothoracic surgeons provide a safe and effective thoracic surgery service?

Por Rajnish, Rajani, Rose, David, Massey, John, Richards, Royan, Bittar, Mohamad N, Duncan, Andrew J, Zacharias, Joseph, Purohit, Manoj
Publicado no J Cardiothorac Surg (2015)

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency

Por El-Khairi, Ranna, Parnaik, Rahul, Duncan, Andrew J., Lin, Lin, Gerrelli, Dianne, Dattani, Mehul T., Conway, Gerard S., Achermann, John C.
Publicado em 2012

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

Por Rahman, Shamima, Ecob, Russell, Costello, Harry, Sweeney, Mary G, Duncan, Andrew J, Pearce, Kerra, Strachan, David, Forge, Andrew, Davis, Adrian, Bitner-Glindzicz, Maria
Publicado em 2012

A genomic atlas of human adrenal and gonad development

Por del Valle, Ignacio, Buonocore, Federica, Duncan, Andrew J., Lin, Lin, Barenco, Martino, Parnaik, Rahul, Shah, Sonia, Hubank, Mike, Gerrelli, Dianne, Achermann, John C.
Publicado no Wellcome Open Res (2017)

Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight

Por Ishida, Miho, Monk, David, Duncan, Andrew J., Abu-Amero, Sayeda, Chong, Jiehan, Ring, Susan M., Pembrey, Marcus E., Hindmarsh, Peter C., Whittaker, John C., Stanier, Philip, Moore, Gudrun E.
Publicado em 2012

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Por Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima
Publicado no Hum Mol Genet (2015)

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

Por Fassone, Elisa, Duncan, Andrew J., Taanman, Jan-Willem, Pagnamenta, Alistair T., Sadowski, Michael I., Holand, Tatjana, Qasim, Waseem, Rutland, Paul, Calvo, Sarah E., Mootha, Vamsi K., Bitner-Glindzicz, Maria, Rahman, Shamima
Publicado no Hum Mol Genet (2010)

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q(10) Deficiency: A Potentially Treatable Form of Mitochondrial Disease

Por Duncan, Andrew J., Bitner-Glindzicz, Maria, Meunier, Brigitte, Costello, Harry, Hargreaves, Iain P., López, Luis C., Hirano, Michio, Quinzii, Catarina M., Sadowski, Michael I., Hardy, John, Singleton, Andrew, Clayton, Peter T., Rahman, Shamima
Publicado em 2009

Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit

Por Katugampola, Harshini, King, Peter J., Chatterjee, Sumana, Meso, Muriel, Duncan, Andrew J., Achermann, John C., Guasti, Leo, Ghataore, Lea, Taylor, Norman F., Allen, Rebecca, Marlene, Shemoon, Aquilina, Joseph, Abbara, Ali, Jaysena, Channa N., Dhillo, Waljit S., Dunkel, Leo, Sankilampi, Ulla, Storr, Helen L.
Publicado no J Clin Endocrinol Metab (2017)

The role and interaction of imprinted genes in human fetal growth

Por Moore, Gudrun E., Ishida, Miho, Demetriou, Charalambos, Al-Olabi, Lara, Leon, Lydia J., Thomas, Anna C., Abu-Amero, Sayeda, Frost, Jennifer M., Stafford, Jaime L., Chaoqun, Yao, Duncan, Andrew J., Baigel, Rachel, Brimioulle, Marina, Iglesias-Platas, Isabel, Apostolidou, Sophia, Aggarwal, Reena, Whittaker, John C., Syngelaki, Argyro, Nicolaides, Kypros H., Regan, Lesley, Monk, David, Stanier, Philip
Publicado no Philos Trans R Soc Lond B Biol Sci (2015)

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Por Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip
Publicado no Am J Hum Genet (2014)

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Por Thomas, Anna C., Williams, Hywel, Setó-Salvia, Núria, Bacchelli, Chiara, Jenkins, Dagan, O’Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glindzicz, Maria, Moore, Gudrun E., Sousa, Sérgio B., Stanier, Philip
Publicado no Am J Hum Genet (2015)

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Por Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, W H Irwin, Patin, Etienne, Rajpert-De Meyts, Ewa, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu
Publicado no Hum Mol Genet (2018)