Αποτελέσματα αναζήτησης - Gregory, Louise C

Structural Pituitary Abnormalities Associated With CHARGE Syndrome από 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.

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

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Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism από 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

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

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

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

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

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The phenotypic spectrum associated with OTX2 mutations in humans από 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

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A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia από 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 J.J., Rajabali, Sakina H., Riegman, Kimberley L.H., De Martini, Lisa B., Chaya, Taro, Robinson, Iain C.A.F., Furukawa, Takahisa, Cariboni, Anna, Basson, M. Albert, Dattani, Mehul T.

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Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans από 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

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Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency από 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, Z. Burcin, Pérez-Jurado, Luis A, Robinson, Iain, Badge, Robin Lovell, Argente, Jesús, Dattani, Mehul T

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Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes από 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

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