Mitochondrial disease and endocrine dysfunction
Chow, Jasmine, Rahman, Joyeeta, Achermann, John C., Dattani, Mehul T., Rahman, Shamima
Published in Nature reviews. Endocrinology (01.02.2017)
Published in Nature reviews. Endocrinology (01.02.2017)
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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
Prasad, Rathi, Hadjidemetriou, Irene, Maharaj, Avinaash, Meimaridou, Eirini, Buonocore, Federica, Saleem, Moin, Hurcombe, Jenny, Bierzynska, Agnieszka, Barbagelata, Eliana, Bergadá, Ignacio, Cassinelli, Hamilton, Das, Urmi, Krone, Ruth, Hacihamdioglu, Bulent, Sari, Erkan, Yesilkaya, Ediz, Storr, Helen L, Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C, Van Veldhoven, Paul P, Guasti, Leonardo, Braslavsky, Debora, Guran, Tulay, Metherell, Louise A
Published in The Journal of clinical investigation (01.03.2017)
Published in The Journal of clinical investigation (01.03.2017)
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Steroidogenic factor-1 (SF-1, NR5A1) and human disease
Ferraz-de-Souza, Bruno, Lin, Lin, Achermann, John C.
Published in Molecular and cellular endocrinology (10.04.2011)
Published in Molecular and cellular endocrinology (10.04.2011)
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Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Bas, Firdevs, Darcan, Sukran, Bideci, Aysun, Guven, Ayla, Demir, Korcan, Akinci, Aysehan, Buyukinan, Muammer, Aydin, Banu Kucukemre, Turan, Serap, Agladioglu, Sebahat Yilmaz, Atay, Zeynep, Abali, Zehra Yavas, Tarim, Omer, Catli, Gonul, Yuksel, Bilgin, Akcay, Teoman, Yildiz, Metin, Ozen, Samim, Doger, Esra, Demirbilek, Huseyin, Ucar, Ahmet, Isik, Emregul, Ozhan, Bayram, Bolu, Semih, Ozgen, Ilker Tolga, Suntharalingham, Jenifer P, Achermann, John C
Published in The journal of clinical endocrinology and metabolism (01.01.2016)
Published in The journal of clinical endocrinology and metabolism (01.01.2016)
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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
Bashamboo, Anu, Eozenou, Caroline, Jorgensen, Anne, Bignon-Topalovic, Joelle, Siffroi, Jean-Pierre, Hyon, Capucine, Tar, Attila, Nagy, Péter, Sólyom, Janos, Halász, Zita, Paye-Jaouen, Annnabel, Lambert, Sophie, Rodriguez-Buritica, David, Bertalan, Rita, Martinerie, Laetitia, Rajpert-De Meyts, Ewa, Achermann, John C., McElreavey, Ken
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Journal Article
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals
Domenice, Sorahia, Zamboni Machado, Aline, Moraes Ferreira, Frederico, Ferraz-de-Souza, Bruno, Marcondes Lerario, Antonio, Lin, Lin, Yumie Nishi, Mirian, Lisboa Gomes, Nathalia, Evelin da Silva, Thatiana, Barbosa Silva, Rosana, Vieira Correa, Rafaela, Ribeiro Montenegro, Luciana, Narciso, Amanda, Maria Frade Costa, Elaine, Achermann, John C, Bilharinho Mendonca, Berenice
Published in Birth defects research. Part C. Embryo today (01.12.2016)
Published in Birth defects research. Part C. Embryo today (01.12.2016)
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Disorders of sex development: effect of molecular diagnostics
Achermann, John C., Domenice, Sorahia, Bachega, Tania A. S. S., Nishi, Mirian Y., Mendonca, Berenice B.
Published in Nature reviews. Endocrinology (01.08.2015)
Published in Nature reviews. Endocrinology (01.08.2015)
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A conserved NR5A1-responsive enhancer regulates SRY in testis-determination
Houzelstein, Denis, Eozenou, Caroline, Lagos, Carlos F., Elzaiat, Maëva, Bignon-Topalovic, Joelle, Gonzalez, Inma, Laville, Vincent, Schlick, Laurène, Wankanit, Somboon, Madon, Prochi, Kirtane, Jyotsna, Athalye, Arundhati, Buonocore, Federica, Bigou, Stéphanie, Conway, Gerard S., Bohl, Delphine, Achermann, John C., Bashamboo, Anu, McElreavey, Ken
Published in Nature communications (30.03.2024)
Published in Nature communications (30.03.2024)
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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Bashamboo, Anu, Donohoue, Patricia A, Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N, Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A, Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P, de Silva, Ksh, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F, McElreavey, Ken, Achermann, John C
Published in Human molecular genetics (15.08.2016)
Published in Human molecular genetics (15.08.2016)
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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
Arboleda, Valerie A, Lee, Hane, Parnaik, Rahul, Fleming, Alice, Banerjee, Abhik, Ferraz-de-Souza, Bruno, Délot, Emmanuèle C, Rodriguez-Fernandez, Imilce A, Braslavsky, Debora, Bergadá, Ignacio, Dell'Angelica, Esteban C, Nelson, Stanley F, Martinez-Agosto, Julian A, Achermann, John C, Vilain, Eric
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations
Giri, Dinesh, Bockenhauer, Detlef, Deshpande, Charu, Achermann, John C, Taylor, Norman F, Rumsby, Gill, Morgan, Henry, Senniappan, Senthil, Ajzensztejn, Michal
Published in Hormone research in paediatrics (01.08.2020)
Published in Hormone research in paediatrics (01.08.2020)
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Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report
Ali, Naseer, Maharaj, Avinaash Vickram, Buonocore, Federica, Achermann, John C, Metherell, Louise A
Published in Frontiers in endocrinology (Lausanne) (28.03.2022)
Published in Frontiers in endocrinology (Lausanne) (28.03.2022)
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Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy. [version 2; peer review: 3 approved with reservations]
Buonocore, Federica, Balys, Monika, Anderson, Glenn, Achermann, John C.
Published in F1000 research (2023)
Published in F1000 research (2023)
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Journal Article
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant
Buonocore, Federica, McGlacken-Byrne, Sinead M, Del Valle, Ignacio, Achermann, John C
Published in Frontiers in pediatrics (14.12.2020)
Published in Frontiers in pediatrics (14.12.2020)
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Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
Suntharalingham, Jenifer P, Ishida, Miho, Del Valle, Ignacio, Stalman, Susanne E, Solanky, Nita, Wakeling, Emma, Moore, Gudrun E, Achermann, John C, Buonocore, Federica
Published in Frontiers in endocrinology (Lausanne) (18.08.2022)
Published in Frontiers in endocrinology (Lausanne) (18.08.2022)
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Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency
Metherell, Louise A, Naville, Danielle, Halaby, George, Begeot, Martine, Huebner, Angela, Nürnberg, Gudrun, Nürnberg, Peter, Green, Jane, Tomlinson, Jeremy W, Krone, Nils P, Lin, Lin, Racine, Michael, Berney, Dan M, Achermann, John C, Arlt, Wiebke, Clark, Adrian J. L
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
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Analysis of genetic variability in Turner syndrome linked to long-term clinical features
Suntharalingham, Jenifer P, Ishida, Miho, Cameron-Pimblett, Antoinette, McGlacken-Byrne, Sinead M, Buonocore, Federica, Del Valle, Ignacio, Madhan, Gaganjit Kaur, Brooks, Tony, Conway, Gerard S, Achermann, John C
Published in Frontiers in endocrinology (Lausanne) (20.09.2023)
Published in Frontiers in endocrinology (Lausanne) (20.09.2023)
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Journal Article
Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)
Sahakitrungruang, Taninee, Soccio, Raymond E, Lang-Muritano, Mariarosaria, Walker, Joanna M, Achermann, John C, Miller, Walter L
Published in The journal of clinical endocrinology and metabolism (01.07.2010)
Published in The journal of clinical endocrinology and metabolism (01.07.2010)
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