GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders

Por Lemos, Manuel C, Thakker, Rajesh V
Publicado no Hum Mutat (2015)

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene

Por Lemos, Manuel C., Christie, Paul T., Rodrigues, Dírcea, Thakker, Rajesh V.
Publicado no Clin Endocrinol (Oxf) (2015)

Association of RET Genetic Polymorphisms and Haplotypes with Papillary Thyroid Carcinoma in the Portuguese Population: A Case-Control Study

Por Santos, Marina, Azevedo, Teresa, Martins, Teresa, Rodrigues, Fernando J., Lemos, Manuel C.
Publicado em 2014

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

Por Harding, Brian, Lemos, Manuel C, Reed, Anita A C, Walls, Gerard V, Jeyabalan, Jeshmi, Bowl, Michael R, Tateossian, Hilda, Sullivan, Nicky, Hough, Tertius, Fraser, William D, Ansorge, Olaf, Cheeseman, Michael T, Thakker, Rajesh V
Publicado no Endocr Relat Cancer (2009)

MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas

Por Walls, Gerard V., Lemos, Manuel C, Javid, Mahsa, Bazan-Peregrino, Miriam, Jeyabalan, Jeshmi, Reed, Anita A. C., Harding, Brian, Tyler, Damian J., Stuckey, Daniel J., Piret, Sian, Christie, Paul T., Ansorge, Olaf, Clarke, Kieran, Seymour, Len, Thakker, Rajesh V.
Publicado em 2012

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

Por Dusatkova, Petra, Pfäffle, Roland, Brown, Milton R, Akulevich, Natallia, Arnhold, Ivo JP, Kalina, Maria A, Kot, Karolina, Krzisnik, Ciril, Lemos, Manuel C, Malikova, Jana, Navardauskaite, Ruta, Obermannova, Barbora, Pribilincova, Zuzana, Sallai, Agnes, Stipancic, Gordana, Verkauskiene, Rasa, Cinek, Ondrej, Blum, Werner F, Parks, John S, Austerlitz, Frederic, Lebl, Jan
Publicado no Eur J Hum Genet (2016)

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Por Badiu, Corin, Bonomi, Marco, Borshchevsky, Ivan, Cools, Martine, Craen, Margarita, Ghervan, Cristina, Hauschild, Michael, Hershkovitz, Eli, Hrabovszky, Erik, Juul, Anders, Kim, Soo-Hyun, Kumanov, Phillip, Lecumberri, Beatriz, Lemos, Manuel C., Neocleous, Vassos, Niedziela, Marek, Djurdjevic, Sandra Pekic, Persani, Luca, Phan-Hug, Franziska, Pignatelli, Duarte, Pitteloud, Nelly, Popovic, Vera, Quinton, Richard, Skordis, Nicos, Smith, Neil, Stefanija, Magdalena Avbelj, Xu, Cheng, Young, Jacques, Dwyer, Andrew A.
Publicado no Orphanet J Rare Dis (2017)