Výsledky vyhledávání - Stals, Karen

An exome sequencing strategy to diagnose lethal autosomal recessive disorders Autor Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana

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Risk category system to identify pituitary adenoma patients with AIP mutations Autor Caimari, Francisca, Hernández-Ramírez, Laura Cristina, Dang, Mary N, Gabrovska, Plamena, Iacovazzo, Donato, Stals, Karen, Ellard, Sian, Korbonits, Márta

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Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene Autor Pearson, Ewan R, Boj, Sylvia F, Steele, Anna M, Barrett, Timothy, Stals, Karen, Shield, Julian P, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T

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An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene Autor Dinesen, Pia T, Dal, Jakob, Gabrovska, Plamena, Gaustadnes, Mette, Gravholt, Claus H, Stals, Karen, Denes, Judit, Asa, Sylvia L, Korbonits, Márta, Jørgensen, Jens O L

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Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma Autor Boguszewski, César Luiz, Fighera, Tayane Muniz, Bornschein, Andressa, Marques, Fabricio Machado, Dénes, Judit, Rattenbery, Eleanor, Maher, Eamonn R., Stals, Karen, Ellard, Sian, Korbonits, Marta

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Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease Autor Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, Sian

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Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease Autor Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, Sian

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Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors Autor Marques, Pedro, Caimari, Francisca, Hernández-Ramírez, Laura C, Collier, David, Iacovazzo, Donato, Ronaldson, Amy, Magid, Kesson, Lim, Chung Thong, Stals, Karen, Ellard, Sian, Grossman, Ashley B, Korbonits, Márta

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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia Autor Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Sian

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Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers Autor Hernández-Ramírez, Laura C., Gabrovska, Plamena, Dénes, Judit, Stals, Karen, Trivellin, Giampaolo, Tilley, Daniel, Ferraù, Francesco, Evanson, Jane, Ellard, Sian, Grossman, Ashley B., Roncaroli, Federico, Gadelha, Mônica R., Korbonits, Márta

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Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families Autor Igreja, Susana, Chahal, Harvinder S, King, Peter, Bolger, Graeme B, Srirangalingam, Umasuthan, Guasti, Leonardo, Chapple, J Paul, Trivellin, Giampaolo, Gueorguiev, Maria, Guegan, Katie, Stals, Karen, Khoo, Bernard, Kumar, Ajith V, Ellard, Sian, Grossman, Ashley B, Korbonits, Márta

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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly Autor Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, Baralle, Diana

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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome Autor Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.

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Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome Autor Ismail, Vardha, Zachariassen, Linda G., Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L., Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M., Pedersen, Miriam G., Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S., Baralle, Diana

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In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism Autor Salvatori, Roberto, Radian, Serban, Diekmann, Yoan, Iacovazzo, Donato, David, Alessia, Gabrovska, Plamena, Grassi, Giorgia, Bussell, Anna-Marie, Stals, Karen, Weber, Astrid, Quinton, Richard, Crowne, Elizabeth C, Corazzini, Valentina, Metherell, Lou, Kearney, Tara, Du Plessis, Daniel, Sinha, Ajay Kumar, Baborie, Atik, Lecoq, Anne-Lise, Chanson, Philippe, Ansorge, Olaf, Ellard, Sian, Trainer, Peter J, Balding, David, Thomas, Mark G, Korbonits, Márta

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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism Autor Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian

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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism Autor Schänzer, Anne, Achleitner, Melanie T., Trümbach, Dietrich, Hubert, Laurence, Munnich, Arnold, Ahlemeyer, Barbara, AlAbdulrahim, Maha M., Greif, Philipp A., Vosberg, Sebastian, Hummer, Blake, Feichtinger, René G., Mayr, Johannes A., Wortmann, Saskia B., Aichner, Heidi, Rudnik-Schöneborn, Sabine, Ruiz, Anna, Gabau, Elisabeth, Sánchez, Jacobo Pérez, Ellard, Sian, Homfray, Tessa, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel

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Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Autor Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth

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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome Autor Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackson, Brian, Lynch, Sally Ann, Nadat, Fatima, Narasimhan, Vagheesh M., Peckham, Michelle, Sellers, Robert, Seri, Marco, Montanari, Francesca, Southgate, Laura, Squeo, Gabriella Maria, Trembath, Richard, van Heel, David, Venuto, Santina, Weisberg, Daniel, Stals, Karen, Ellard, Sian, Barton, Anne, Kimber, Susan J., Sheridan, Eamonn, Merla, Giuseppe, Stevens, Adam, Johnson, Colin A., Banka, Siddharth

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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome Autor White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid, Hoischen, Alexander, van Bon, Bregje W.M., Gezdirici, Alper, Gulec, Elif Yilmaz, Ramond, Francis, Touraine, Renaud, Thevenon, Julien, Shinawi, Marwan, Beaver, Erin, Heeley, Jennifer, Hoover-Fong, Julie, Durmaz, Ceren D., Karabulut, Halil Gurhan, Marzioglu-Ozdemir, Ebru, Cayir, Atilla, Duz, Mehmet B., Seven, Mehmet, Price, Susan, Ferreira, Barbara Merfort, Vianna-Morgante, Angela M., Ellard, Sian, Parrish, Andrew, Stals, Karen, Flores-Daboub, Josue, Jhangiani, Shalini N., Gibbs, Richard A., Brunner, Han G., Sutton, V. Reid, Lupski, James R., Carvalho, Claudia M.B.

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