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)

Defective Vagal Innervation in Murine Tbx1 Mutant Hearts

Por Calmont, Amélie, Anderson, Naomi, Suntharalingham, Jenifer P., Ang, Richard, Tinker, Andrew, Scambler, Peter J.
Publicado no J Cardiovasc Dev Dis (2018)

A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make

Por Çetinkaya, Semra, Güran, Tülay, Kurnaz, Erdal, Keskin, Melikşah, Sağsak, Elif, Savaş Erdeve, Senay, Suntharalingham, Jenifer P., Buonocore, Federica, Achermann, John C., Aycan, Zehra
Publicado no J Clin Res Pediatr Endocrinol (2018)

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)

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)

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

Por Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P, Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R, Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D, Brain, Caroline E, Suntharalingham, Jenifer P, Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A, Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S, McInerney-Leo, Aideen M, Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P, Harris, Mark, Duncan, Emma L, Hindmarsh, Peter C, Auchus, Richard J, Donaldson, Malcolm D, Achermann, John C, Metherell, Louise A
Publicado no J Endocr Soc (2018)