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)

The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development

Por Ivins, Sarah, Chappell, Joel, Vernay, Bertrand, Suntharalingham, Jenifer, Martineau, Alexandrine, Mohun, Timothy J., Scambler, Peter J.
Publicado no Dev Cell (2015)

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Por 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.
Publicado no Hum Mol Genet (2016)

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Por Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P., Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F., Blankenstein, Oliver, Procter, Annie M., Dimitri, Paul, Wales, Jerry K.H., Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W., Chen, Wei, Kokai, George K., Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A., McKee, Shane A., Niemeyer, Charlotte M., Grüters, Annette, Achermann, John C.
Publicado no J Clin Invest (2017)

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Por 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.
Publicado no J Clin Endocrinol Metab (2016)