Human sex development: targeted technologies to improve diagnosis

od Buonocore, Federica, Achermann, John C.
Wydane w Genome Biol (2016)

Primary adrenal insufficiency: New genetic causes and their long‐term consequences

od Buonocore, Federica, Achermann, John C.
Wydane w Clin Endocrinol (Oxf) (2019)

Steroidogenic Factor-1 and Human Disease

od El-Khairi, Ranna, Achermann, John C.
Wydane w Semin Reprod Med (2012)

Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes

od McElreavey, Kenneth, Achermann, John C.
Wydane w Horm Res Paediatr (2017)

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

od Ferraz-de-Souza, Bruno, Lin, Lin, Achermann, John C.
Wydane 2011

Genetic disorders of nuclear receptors

od Achermann, John C., Schwabe, John, Fairall, Louise, Chatterjee, Krishna
Wydane w J Clin Invest (2017)

Battle of the sexes: new insights into genetic pathways of gonadal development.

od Jameson, J. Larry, Achermann, John C., Ozisik, Gokhan, Meeks, Joshua J.
Wydane 2003

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

od Suntharalingham, Jenifer P., Buonocore, Federica, Duncan, Andrew J., Achermann, John C.
Wydane w Best Pract Res Clin Endocrinol Metab (2015)

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

od Buonocore, Federica, McGlacken-Byrne, Sinead M., del Valle, Ignacio, Achermann, John C.
Wydane w Front Pediatr (2020)

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor (GNRHR) presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

od Lin, Lin, Conway, Gerard S., Hill, Nathan R., Dattani, Mehul T., Hindmarsh, Peter C., Achermann, John C.
Wydane 2006

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) in children and adults with primary adrenal failure: ten years' experience

od Lin, Lin, Gu, Wen-Xia, Ozisik, Gokhan, To, Wing S., Owen, Catherine J., Jameson, J. Larry, Achermann, John C.
Wydane 2006

Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR)

od Sahakitrungruang, Taninee, Soccio, Raymond E., Lang-Muritano, Mariarosaria, Walker, Joanna M., Achermann, John C., Miller, Walter L.
Wydane 2010

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

od Philibert, Pascal, Zenaty, Delphine, Lin, Lin, Soskin, Sylvie, Audran, Françoise, Léger, Juliane, Achermann, John C., Sultan, Charles
Wydane 2007

ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland

od Ferraz-de-Souza, Bruno, Lin, Lin, Shah, Sonia, Jina, Nipurna, Hubank, Mike, Dattani, Mehul T., Achermann, John C.
Wydane 2011

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

od Tomaselli, Sara, Megiorni, Francesca, Lin, Lin, Mazzilli, Maria Cristina, Gerrelli, Dianne, Majore, Silvia, Grammatico, Paola, Achermann, John C.
Wydane 2011

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

od Kyriakakis, Nikolaos, Shonibare, Tolulope, Kyaw-Tun, Julie, Lynch, Julie, Lagos, Carlos F., Achermann, John C., Murray, Robert D.
Wydane w Pituitary (2017)

Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1

od Wang, Zhen J., Jeffs, Baxter, Ito, Masafumi, Achermann, John C., Yu, Richard N., Hales, Dale B., Jameson, J. Larry
Wydane 2001

Non-Classic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein With Very Late Presentation and Normal Male Genitalia

od Baker, Bo Yang, Lin, Lin, Kim, Chan Jong, Raza, Jamal, Smith, Claire P., Miller, Walter L., Achermann, John C.
Wydane 2006

Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal

od Ferraz-de-Souza, Bruno, Hudson-Davies, Rebecca E., Lin, Lin, Parnaik, Rahul, Hubank, Mike, Dattani, Mehul T., Achermann, John C.
Wydane 2011

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

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