Structural Pituitary Abnormalities Associated With CHARGE Syndrome

Por Gregory, Louise C., Gevers, Evelien F., Baker, Joanne, Kasia, Tessa, Chong, Kling, Josifova, Dragana J., Caimari, Maria, Bilan, Frederic, McCabe, Mark J., Dattani, Mehul T.
Publicado em 2013

Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)

Por McCabe, Mark J., Hu, Youli, Gregory, Louise C., Gaston-Massuet, Carles, Alatzoglou, Kyriaki S., Saldanha, José W., Gualtieri, Angelica, Thankamony, Ajay, Hughes, Ieuan, Townshend, Sharron, Martinez-Barbera, Juan-Pedro, Bouloux, Pierre-Marc, Dattani, Mehul T.
Publicado no Mol Cell Endocrinol (2015)

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis

Por Gregory, Louise C, Shah, Pratik, Sanner, Juliane R F, Arancibia, Monica, Hurst, Jane, Jones, Wendy D, Spoudeas, Helen, Le Quesne Stabej, Polona, Williams, Hywel J, Ocaka, Louise A, Loureiro, Carolina, Martinez-Aguayo, Alejandro, Dattani, Mehul T
Publicado no J Clin Endocrinol Metab (2019)

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

Por Hietamäki, Johanna, Gregory, Louise C, Ayoub, Sandy, Iivonen, Anna-Pauliina, Vaaralahti, Kirsi, Liu, Xiaonan, Brandstack, Nina, Buckton, Andrew J, Laine, Tiina, Känsäkoski, Johanna, Hero, Matti, Miettinen, Päivi J, Varjosalo, Markku, Wakeling, Emma, Dattani, Mehul T, Raivio, Taneli
Publicado no J Clin Endocrinol Metab (2020)

Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

Por McCabe, Mark J., Gaston-Massuet, Carles, Tziaferi, Vaitsa, Gregory, Louise C., Alatzoglou, Kyriaki S., Signore, Massimo, Puelles, Eduardo, Gerrelli, Dianne, Farooqi, I. Sadaf, Raza, Jamal, Walker, Joanna, Kavanaugh, Scott I., Tsai, Pei-San, Pitteloud, Nelly, Martinez-Barbera, Juan-Pedro, Dattani, Mehul T.
Publicado em 2011

Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

Por McCabe, Mark J., Gaston-Massuet, Carles, Gregory, Louise C., Alatzoglou, Kyriaki S., Tziaferi, Vaitsa, Sbai, Oualid, Rondard, Philippe, Masumoto, Koh-hei, Nagano, Mamoru, Shigeyoshi, Yasufumi, Pfeifer, Marija, Hulse, Tony, Buchanan, Charles R., Pitteloud, Nelly, Martinez-Barbera, Juan-Pedro, Dattani, Mehul T.
Publicado em 2013

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

Por Gregory, Louise C., Ferreira, Carolina B., Young-Baird, Sara K., Williams, Hywel J., Harakalova, Magdalena, van Haaften, Gijs, Rahman, Sofia A., Gaston-Massuet, Carles, Kelberman, Daniel, GOSgene, Qasim, Waseem, Camper, Sally A., Dever, Thomas E., Shah, Pratik, Robinson, Iain C.A.F., Dattani, Mehul T.
Publicado no EBioMedicine (2019)

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

Por Raivio, Taneli, Avbelj, Magdalena, McCabe, Mark J., Romero, Christopher J., Dwyer, Andrew A., Tommiska, Johanna, Sykiotis, Gerasimos P., Gregory, Louise C., Diaczok, Daniel, Tziaferi, Vaitsa, Elting, Mariet W., Padidela, Raja, Plummer, Lacey, Martin, Cecilia, Feng, Bihua, Zhang, Chengkang, Zhou, Qun-Yong, Chen, Huaibin, Mohammadi, Moosa, Quinton, Richard, Sidis, Yisrael, Radovick, Sally, Dattani, Mehul T., Pitteloud, Nelly
Publicado em 2012

Transcription factor 7-like 1 is involved in hypothalamo–pituitary axis development in mice and humans

Por Gaston-Massuet, Carles, McCabe, Mark J., Scagliotti, Valeria, Young, Rodrigo M., Carreno, Gabriela, Gregory, Louise C., Jayakody, Sujatha A., Pozzi, Sara, Gualtieri, Angelica, Basu, Basudha, Koniordou, Markela, Wu, Chun-I, Bancalari, Rodrigo E., Rahikkala, Elisa, Veijola, Riitta, Lopponen, Tuija, Graziola, Federica, Turton, James, Signore, Massimo, Mousavy Gharavy, Seyedeh Neda, Charolidi, Nicoletta, Sokol, Sergei Y., Andoniadou, Cynthia Lilian, Wilson, Stephen W., Merrill, Bradley J., Dattani, Mehul T., Martinez-Barbera, Juan Pedro
Publicado no Proc Natl Acad Sci U S A (2016)