Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome
Richards, Anna, Kemp, Elizabeth J., Liszewski, M. Kathryn, Goodship, Judith A., Lampe, Anne K., Decorte, Ronny, Müslümanoǧglu, M. Hamza, Kavukcu, Salih, Filler, Guido, Pirson, Yves, Wen, Leana S., Atkinson, John P., Timothy H. J. Goodship
Published in Proceedings of the National Academy of Sciences - PNAS (28.10.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (28.10.2003)
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Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, Anne K., Giovannucci Uzielli, Maria Luisa, Gordon, Christopher T., Plessis, Ghislaine, Le Merrer, Martine, Amiel, Jeanne, Reichenberger, Ernst, Shively, Kathryn M., Cerrato, Felecia, Labow, Brian I., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Symonds, Joseph D., Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees, Melissa M., McLellan, Ailsa, Montgomery, Tara, Mundada, Vivek, Nairn, Lesley, Sarkar, Ajoy, Schallner, Jens, Pozojevic, Jelena, Parenti, Ilaria, Tan, Jeen, Turnpenny, Peter, Whitehouse, William P., Zuberi, Sameer M.
Published in Epilepsia (Copenhagen) (01.04.2017)
Published in Epilepsia (Copenhagen) (01.04.2017)
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Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation
Eberhardt, Mirjam, Nakajima, Julika, Klinger, Alexandra B, Neacsu, Cristian, Hühne, Kathrin, O'Reilly, Andrias O, Kist, Andreas M, Lampe, Anne K, Fischer, Kerstin, Gibson, Jane, Nau, Carla, Winterpacht, Andreas, Lampert, Angelika
Published in The Journal of biological chemistry (24.01.2014)
Published in The Journal of biological chemistry (24.01.2014)
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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders
Evers, Jochem M G, Laskowski, Roman A, Bertolli, Marta, Clayton-Smith, Jill, Deshpande, Charu, Eason, Jacqueline, Elmslie, Frances, Flinter, Frances, Gardiner, Carol, Hurst, Jane A, Kingston, Helen, Kini, Usha, Lampe, Anne K, Lim, Derek, Male, Alison, Naik, Swati, Parker, Michael J, Price, Sue, Robert, Leema, Sarkar, Ajoy, Straub, Volker, Woods, Geoff, Thornton, Janet M, Wright, Caroline F
Published in Human molecular genetics (01.02.2017)
Published in Human molecular genetics (01.02.2017)
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Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome
de Vries, Bert B. A, Ross, Shelley, Gécz, Jozef, Grompe, Markus, Clayton-Smith, Jill, Stewart, Helen, Lampe, Anne K, Gedeon, Ági K, White, Susan M, Thomas, Paul, Mulley, John C, Lower, Karen M, Turner, Gillian, Mathews, Katherine D, Schelley, Susan, van Ravenswaay, Conny M. A, Kerr, Bronwyn A, Shaw, Marie A, Hoyme, H. Eugene, Delatycki, Martin B, Cox, Barbara
Published in Nature genetics (01.12.2002)
Published in Nature genetics (01.12.2002)
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
Published in Genome medicine (28.02.2019)
Published in Genome medicine (28.02.2019)
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