Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders
Gregory, Louise C., Cionna, Cecilia, Cerbone, Manuela, Dattani, Mehul T.
Published in Genetics in medicine (01.09.2023)
Published in Genetics in medicine (01.09.2023)
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Journal Article
Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia
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
Published in The journal of clinical endocrinology and metabolism (01.04.2012)
Published in The journal of clinical endocrinology and metabolism (01.04.2012)
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Journal Article
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
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
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
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Journal Article
Transcription factor 7-like 1 is involved in hypothalamo–pituitary axis development in mice and humans
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, Gharavy, Seyedeh Neda Mousavy, Charolidi, Nicoletta, Sokol, Sergei Y., Andoniadou, Cynthia Lilian, Wilson, Stephen W., Merrill, Bradley J., Dattani, Mehul T., Martinez-Barbera, Juan Pedro
Published in Proceedings of the National Academy of Sciences - PNAS (02.02.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (02.02.2016)
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Journal Article
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia
Whittaker, Danielle E, Oleari, Roberto, Gregory, Louise C, Le Quesne-Stabej, Polona, Williams, Hywel J, Torpiano, John G, Formosa, Nancy, Cachia, Mario J, Field, Daniel, Lettieri, Antonella, Ocaka, Louise A, Paganoni, Alyssa Jj, Rajabali, Sakina H, Riegman, Kimberley Lh, De Martini, Lisa B, Chaya, Taro, Robinson, Iain Caf, Furukawa, Takahisa, Cariboni, Anna, Basson, M Albert, Dattani, Mehul T
Published in The Journal of clinical investigation (15.12.2021)
Published in The Journal of clinical investigation (15.12.2021)
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Journal Article
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis
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
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
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Journal Article
Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction
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
Published in The journal of clinical endocrinology and metabolism (01.10.2011)
Published in The journal of clinical endocrinology and metabolism (01.10.2011)
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Journal Article
Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
Hufnagel, Robert B, Arno, Gavin, Hein, Nichole D, Hersheson, Joshua, Prasad, Megana, Anderson, Yvonne, Krueger, Laura A, Gregory, Louise C, Stoetzel, Corinne, Jaworek, Thomas J, Hull, Sarah, Li, Abi, Plagnol, Vincent, Willen, Christi M, Morgan, Thomas M, Prows, Cynthia A, Hegde, Rashmi S, Riazuddin, Saima, Grabowski, Gregory A, Richardson, Rudy J, Dieterich, Klaus, Huang, Taosheng, Revesz, Tamas, Martinez-Barbera, J P, Sisk, Robert A, Jefferies, Craig, Houlden, Henry, Dattani, Mehul T, Fink, John K, Dollfus, Helene, Moore, Anthony T, Ahmed, Zubair M
Published in Journal of medical genetics (01.02.2015)
Published in Journal of medical genetics (01.02.2015)
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Journal Article
The phenotypic spectrum associated with OTX2 mutations in humans
Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T
Published in European journal of endocrinology (25.05.2021)
Published in European journal of endocrinology (25.05.2021)
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Journal Article
Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia
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
Published in The journal of clinical endocrinology and metabolism (01.03.2013)
Published in The journal of clinical endocrinology and metabolism (01.03.2013)
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Journal Article
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency
Akin, Leyla, Rizzoti, Karine, Gregory, Louise C., Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M., Martos-Moreno, Gabriel Á., Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Zeynep Burcin, Pérez-Jurado, Luis A., Robinson, Iain, Lovell-Badge, Robin, Argente, Jesús, Dattani, Mehul T.
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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Journal Article
Structural Pituitary Abnormalities Associated With CHARGE Syndrome
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
Published in The journal of clinical endocrinology and metabolism (01.04.2013)
Published in The journal of clinical endocrinology and metabolism (01.04.2013)
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Journal Article
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation
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.
Published in EBioMedicine (01.04.2019)
Published in EBioMedicine (01.04.2019)
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Journal Article
Maternal Obesity during Pregnancy Alters Daily Activity and Feeding Cycles, and Hypothalamic Clock Gene Expression in Adult Male Mouse Offspring
Cleal, Jane K, Bruce, Kimberley D, Shearer, Jasmin L, Thomas, Hugh, Plume, Jack, Gregory, Louise, Shepard, James N, Spiers-Fitzgerald, Kerry L, Mani, Ravi, Lewis, Rohan M, Lillycrop, Karen A, Hanson, Mark A, Byrne, Christopher D, Cagampang, Felino R
Published in International journal of molecular sciences (30.10.2019)
Published in International journal of molecular sciences (30.10.2019)
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Journal Article
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)
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.
Published in Molecular and cellular endocrinology (05.12.2015)
Published in Molecular and cellular endocrinology (05.12.2015)
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Journal Article
Development of the Pituitary Gland
Alatzoglou, Kyriaki S, Gregory, Louise C, Dattani, Mehul T
Published in Comprehensive Physiology (12.03.2020)
Published in Comprehensive Physiology (12.03.2020)
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Journal Article
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans
Gualtieri, Angelica, Kyprianou, Nikolina, Gregory, Louise C, Vignola, Maria Lillina, Nicholson, James G, Tan, Rachael, Inoue, Shin-Ichi, Scagliotti, Valeria, Casado, Pedro, Blackburn, James, Abollo-Jimenez, Fernando, Marinelli, Eugenia, Besser, Rachael E J, Högler, Wolfgang, Karen Temple, I, Davies, Justin H, Gagunashvili, Andrey, Robinson, Iain C A F, Camper, Sally A, Davis, Shannon W, Cutillas, Pedro R, Gevers, Evelien F, Aoki, Yoko, Dattani, Mehul T, Gaston-Massuet, Carles
Published in Nature communications (01.04.2021)
Published in Nature communications (01.04.2021)
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Journal Article
The Molecular Basis of Congenital Hypopituitarism and Related Disorders
Gregory, Louise Cheryl, Dattani, Mehul Tulsidas
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
Published in The journal of clinical endocrinology and metabolism (01.06.2020)
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Journal Article
Pituitary gland development: an update
Bancalari, Rodrigo E, Gregory, Louise C, McCabe, Mark J, Dattani, Mehul T
Published in Endocrine development (01.01.2012)
Published in Endocrine development (01.01.2012)
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Journal Article
RF13 | PMON48 A novel missense variant in the gene encoding Fatty Acid Synthase (FASN) associated with a unique multi-system disorder including hypopituitarism and hypoparathyroidism
Dattani, Mehul, Eaton, Simon, Gregory, Louise, Krywawych, Steven
Published in Journal of the Endocrine Society (01.11.2022)
Published in Journal of the Endocrine Society (01.11.2022)
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